Canonical Allele Identifier: CA3650095

Gene: TPMT

Linked Data

• dbSNP Id: rs763689814
• ExAC: 6:18130994 G / A
• gnomAD v2: 6-18130994-G-A
• gnomAD v4: 6-18130763-G-A
• COSMIC: COSM1442417
• MyVariant Identifiers: chr6:g.18130994G>A (hg19) ; chr6:g.18130763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130763G>A , CM000668.2:g.18130763G>A	GRCh38
NC_000006.11:g.18130994G>A , CM000668.1:g.18130994G>A	GRCh37
NC_000006.10:g.18238973G>A	NCBI36
NG_012137.2:g.29381C>T
NG_012137.3:g.29381C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.643C>T MANE Select	ENSP00000312304.4:p.Arg215Cys
ENST00000309983.4:c.643C>T	ENSP00000312304.4:p.Arg215Cys
NM_000367.3:c.643C>T	NP_000358.1:p.Arg215Cys
XM_011514839.1:c.598C>T	XP_011513141.1:p.Arg200Cys
XM_011514840.1:c.574C>T	XP_011513142.1:p.Arg192Cys
NM_000367.4:c.643C>T	NP_000358.1:p.Arg215Cys
NM_001346817.1:c.643C>T	NP_001333746.1:p.Arg215Cys
NM_001346818.1:c.598C>T	NP_001333747.1:p.Arg200Cys
NM_000367.5:c.643C>T MANE Select	NP_000358.1:p.Arg215Cys