Canonical Allele Identifier: CA357862

Gene: TPMT

Linked Data

• ClinVar Variation Id: 12722
• ClinVar RCV Id: RCV000013559
• PubMed: PMID:8561894 ; PMID:8644731 ; PMID:9177237 ; PMID:9336428 ; PMID:9931345 ; PMID:9931346 ; PMID:10208641 ; PMID:15819814 ; PMID:15967990

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[18130687T>C;18138997C>T] , CM000668.2:g.[18130687T>C;18138997C>T]	GRCh38
NC_000006.11:g.[18130918T>C;18139228C>T] , CM000668.1:g.[18130918T>C;18139228C>T]	GRCh37
NC_000006.10:g.[18238897T>C;18247207C>T]	NCBI36
NG_012137.2:g.[21147G>A;29457A>G]
NG_012137.3:g.[21147G>A;29457A>G]

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.[460G>A;719A>G] MANE Select	ENSP00000312304.4:p.[Ala154Thr;Tyr240Cys]...
ENST00000309983.4:c.[460G>A;719A>G]	ENSP00000312304.4:p.[Ala154Thr;Tyr240Cys]...
NM_000367.3:c.[460G>A;719A>G]	NP_000358.1:p.[Ala154Thr;Tyr240Cys]
XM_011514839.1:c.[460G>A;674A>G]	XP_011513141.1:p.[Ala154Thr;Tyr225Cys]
XM_011514840.1:c.[391G>A;650A>G]	XP_011513142.1:p.[Ala131Thr;Tyr217Cys]
NM_000367.4:c.[460G>A;719A>G]	NP_000358.1:p.[Ala154Thr;Tyr240Cys]
NM_001346817.1:c.[460G>A;719A>G]	NP_001333746.1:p.[Ala154Thr;Tyr240Cys]
NM_001346818.1:c.[460G>A;674A>G]	NP_001333747.1:p.[Ala154Thr;Tyr225Cys]
NM_000367.5:c.[460G>A;719A>G] MANE Select	NP_000358.1:p.[Ala154Thr;Tyr240Cys]