Canonical Allele Identifier: CA122645
Gene: TPMT HGNC NCBI
COSMIC:
COSM4986704 (not active)
MyVariant.info:
GRCh38 chr6:g.18138997C>T
GRCh37 chr6:g.18139228C>T
Revel Score:
ENST00000309983 (MANE Select) 0.520
gnomAD v2:
6:18139228 C / T
gnomAD v3:
6:18138997 C / T
gnomAD v4:
chr6-18138997-C-T
Joint Max Group AF 0.04127009 (NFE)
Genomes Max Group AF 0.03696918 (NFE)
Exomes Max Group AF 0.04146794 (NFE)
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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
Search 100 bp 5'
Search 100 bp 3'