Canonical Allele Identifier: CA362832095

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130912A>T (hg19) ; chr6:g.18130681A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130681A>T , CM000668.2:g.18130681A>T	GRCh38
NC_000006.11:g.18130912A>T , CM000668.1:g.18130912A>T	GRCh37
NC_000006.10:g.18238891A>T	NCBI36
NG_012137.2:g.29463T>A
NG_012137.3:g.29463T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.725T>A MANE Select	ENSP00000312304.4:p.Leu242His
ENST00000309983.4:c.725T>A	ENSP00000312304.4:p.Leu242His
NM_000367.3:c.725T>A	NP_000358.1:p.Leu242His
XM_011514839.1:c.680T>A	XP_011513141.1:p.Leu227His
XM_011514840.1:c.656T>A	XP_011513142.1:p.Leu219His
NM_000367.4:c.725T>A	NP_000358.1:p.Leu242His
NM_001346817.1:c.725T>A	NP_001333746.1:p.Leu242His
NM_001346818.1:c.680T>A	NP_001333747.1:p.Leu227His
NM_000367.5:c.725T>A MANE Select	NP_000358.1:p.Leu242His