Canonical Allele Identifier: CA362832786

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18131003A>T (hg19) ; chr6:g.18130772A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130772A>T , CM000668.2:g.18130772A>T	GRCh38
NC_000006.11:g.18131003A>T , CM000668.1:g.18131003A>T	GRCh37
NC_000006.10:g.18238982A>T	NCBI36
NG_012137.2:g.29372T>A
NG_012137.3:g.29372T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.634T>A MANE Select	ENSP00000312304.4:p.Cys212Ser
ENST00000309983.4:c.634T>A	ENSP00000312304.4:p.Cys212Ser
NM_000367.3:c.634T>A	NP_000358.1:p.Cys212Ser
XM_011514839.1:c.589T>A	XP_011513141.1:p.Cys197Ser
XM_011514840.1:c.565T>A	XP_011513142.1:p.Cys189Ser
NM_000367.4:c.634T>A	NP_000358.1:p.Cys212Ser
NM_001346817.1:c.634T>A	NP_001333746.1:p.Cys212Ser
NM_001346818.1:c.589T>A	NP_001333747.1:p.Cys197Ser
NM_000367.5:c.634T>A MANE Select	NP_000358.1:p.Cys212Ser