Canonical Allele Identifier: CA362832510

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130984T>A (hg19) ; chr6:g.18130753T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130753T>A , CM000668.2:g.18130753T>A	GRCh38
NC_000006.11:g.18130984T>A , CM000668.1:g.18130984T>A	GRCh37
NC_000006.10:g.18238963T>A	NCBI36
NG_012137.2:g.29391A>T
NG_012137.3:g.29391A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.653A>T MANE Select	ENSP00000312304.4:p.Glu218Val
ENST00000309983.4:c.653A>T	ENSP00000312304.4:p.Glu218Val
NM_000367.3:c.653A>T	NP_000358.1:p.Glu218Val
XM_011514839.1:c.608A>T	XP_011513141.1:p.Glu203Val
XM_011514840.1:c.584A>T	XP_011513142.1:p.Glu195Val
NM_000367.4:c.653A>T	NP_000358.1:p.Glu218Val
NM_001346817.1:c.653A>T	NP_001333746.1:p.Glu218Val
NM_001346818.1:c.608A>T	NP_001333747.1:p.Glu203Val
NM_000367.5:c.653A>T MANE Select	NP_000358.1:p.Glu218Val