Canonical Allele Identifier: CA122645

Gene: TPMT

Linked Data

• ClinVar Variation Id: 37126
• ClinVar RCV Id: RCV003914876
• dbSNP Id: rs1800460
• ExAC: 6:18139228 C / T
• gnomAD v2: 6-18139228-C-T
• gnomAD v3: 6-18138997-C-T
• gnomAD v4: 6-18138997-C-T
• MyVariant Identifiers: chr6:g.18139228C>T (hg19) ; chr6:g.18138997C>T (hg38)
• PubMed: PMID:8561894 ; PMID:9931345

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.460G>A MANE Select	ENSP00000312304.4:p.Ala154Thr
ENST00000309983.4:c.460G>A	ENSP00000312304.4:p.Ala154Thr
NM_000367.3:c.460G>A	NP_000358.1:p.Ala154Thr
XM_011514839.1:c.460G>A	XP_011513141.1:p.Ala154Thr
XM_011514840.1:c.391G>A	XP_011513142.1:p.Ala131Thr
NM_000367.4:c.460G>A	NP_000358.1:p.Ala154Thr
NM_001346817.1:c.460G>A	NP_001333746.1:p.Ala154Thr
NM_001346818.1:c.460G>A	NP_001333747.1:p.Ala154Thr
NM_000367.5:c.460G>A MANE Select	NP_000358.1:p.Ala154Thr