Canonical Allele Identifier: CA362832273

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130950A>T (hg19) ; chr6:g.18130719A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130719A>T , CM000668.2:g.18130719A>T	GRCh38
NC_000006.11:g.18130950A>T , CM000668.1:g.18130950A>T	GRCh37
NC_000006.10:g.18238929A>T	NCBI36
NG_012137.2:g.29425T>A
NG_012137.3:g.29425T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.687T>A MANE Select	ENSP00000312304.4:p.Ser229Arg
ENST00000309983.4:c.687T>A	ENSP00000312304.4:p.Ser229Arg
NM_000367.3:c.687T>A	NP_000358.1:p.Ser229Arg
XM_011514839.1:c.642T>A	XP_011513141.1:p.Ser214Arg
XM_011514840.1:c.618T>A	XP_011513142.1:p.Ser206Arg
NM_000367.4:c.687T>A	NP_000358.1:p.Ser229Arg
NM_001346817.1:c.687T>A	NP_001333746.1:p.Ser229Arg
NM_001346818.1:c.642T>A	NP_001333747.1:p.Ser214Arg
NM_000367.5:c.687T>A MANE Select	NP_000358.1:p.Ser229Arg