Canonical Allele Identifier: CA362832640

Gene: TPMT

Linked Data

• COSMIC: COSM6318140
• MyVariant Identifiers: chr6:g.18130994G>T (hg19) ; chr6:g.18130763G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.643C>A MANE Select	ENSP00000312304.4:p.Arg215Ser
ENST00000309983.4:c.643C>A	ENSP00000312304.4:p.Arg215Ser
NM_000367.3:c.643C>A	NP_000358.1:p.Arg215Ser
XM_011514839.1:c.598C>A	XP_011513141.1:p.Arg200Ser
XM_011514840.1:c.574C>A	XP_011513142.1:p.Arg192Ser
NM_000367.4:c.643C>A	NP_000358.1:p.Arg215Ser
NM_001346817.1:c.643C>A	NP_001333746.1:p.Arg215Ser
NM_001346818.1:c.598C>A	NP_001333747.1:p.Arg200Ser
NM_000367.5:c.643C>A MANE Select	NP_000358.1:p.Arg215Ser