Canonical Allele Identifier: CA220129
Gene: TPMT HGNC NCBI

Linked Data

ClinVar Variation Id: 92243
ClinVar RCV Id: RCV000077849
dbSNP Id: rs398122996
ExAC: 6:18130989 A / T
gnomAD v2: 6-18130989-A-T
gnomAD v3: 6-18130758-A-T
gnomAD v4: 6-18130758-A-T
MyVariant Identifiers: chr6:g.18130989A>T (hg19) chr6:g.18130758A>T (hg38)
PubMed: PMID:24710034
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130758A>T , CM000668.2:g.18130758A>T GRCh38
NC_000006.11:g.18130989A>T , CM000668.1:g.18130989A>T GRCh37
NC_000006.10:g.18238968A>T NCBI36
NG_012137.2:g.29386T>A
NG_012137.3:g.29386T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.648T>A MANE Select ENSP00000312304.4:p.Cys216Ter
ENST00000309983.4:c.648T>A ENSP00000312304.4:p.Cys216Ter
NM_000367.3:c.648T>A NP_000358.1:p.Cys216Ter
XM_011514839.1:c.603T>A XP_011513141.1:p.Cys201Ter
XM_011514840.1:c.579T>A XP_011513142.1:p.Cys193Ter
NM_000367.4:c.648T>A NP_000358.1:p.Cys216Ter
NM_001346817.1:c.648T>A NP_001333746.1:p.Cys216Ter
NM_001346818.1:c.603T>A NP_001333747.1:p.Cys201Ter
NM_000367.5:c.648T>A MANE Select NP_000358.1:p.Cys216Ter
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