TPI1 (GeneID: 7167) | Homo sapiens
Description: triosephosphate isomerase 1 [Source:HGNC Symbol;Acc:HGNC:12009]
Synonyms: TPID, HEL-S-49, TPI, TIM
Other ID(s): HGNC:12009, ENSG00000111669
Protein Accession Numbers: ENST00000594265, NP_001152759, ENST00000229270, ENST00000599583, ENST00000493987, ENST00000595602, ENST00000396705, ENST00000535434, NP_000356, ENST00000598287, ENST00000488464, ENST00000595390, NP_001244955, ENST00000229270.4, ENST00000495834, ENST00000601074, ENST00000597066, ENST00000462761
Statistics: ClinVar(31) gnomAD(232) COSMIC(97)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000229270 ENST00000396705 You are here now! ENST00000462761 ENST00000488464 ENST00000493987 ENST00000495834 ENST00000535434 ENST00000594265 ENST00000595390 You are here now! ENST00000595602 ENST00000597066 ENST00000598287 ENST00000599583 ENST00000601074 NP_000356 You are here now! NP_001152759 NP_001244955


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Osteoporosis, Age-Related Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.564 0.655
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.564 0.655
Oppenheim's Disease Nervous System Diseases ; 0.564 0.655
Anemia, Hemolytic Hemic and Lymphatic Diseases ; 0.564 0.655
Anemia, Hemolytic, Acquired Hemic and Lymphatic Diseases ; 0.564 0.655
Anemia, Hemolytic, Congenital Nonspherocytic Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.564 0.655
Anemia, Microangiopathic Hemic and Lymphatic Diseases ; 0.564 0.655
Squamous cell carcinoma Neoplasms ; 0.564 0.655
Cytopenia N/A 0.564 0.655
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.564 0.655
Inborn Errors of Metabolism Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.564 0.655
Mouth Neoplasms Neoplasms ; Stomatognathic Diseases ; 0.564 0.655
Neuromuscular Diseases Nervous System Diseases ; 0.564 0.655
Osteoporosis Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.564 0.655
Osteoporosis, Senile Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.564 0.655
Schizophrenia Mental Disorders ; 0.564 0.655
Adenocarcinoma of lung (disorder) Neoplasms ; Respiratory Tract Diseases ; 0.564 0.655
Malignant neoplasm of mouth Neoplasms ; Stomatognathic Diseases ; 0.564 0.655
Congenital anemia N/A 0.564 0.655
Microangiopathic hemolytic anemia Hemic and Lymphatic Diseases ; 0.564 0.655
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.564 0.655
Squamous cell carcinoma of esophagus Neoplasms ; Digestive System Diseases ; 0.564 0.655
Triose phosphate isomerase deficiency N/A 0.564 0.655
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.564 0.655
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.564 0.655
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.564 0.655
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.564 0.655
Foley-Denny-Brown Syndrome Nervous System Diseases ; 0.564 0.655
Post-Traumatic Osteoporosis Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.564 0.655
Muscle Disease Manifestations Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.564 0.655
Neuromuscular Manifestations Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.564 0.655
Acute schizophrenia N/A 0.564 0.655
Triosephosphate Isomerase Deficiency Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.564 0.655
NO RESULT FOUND
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