Canonical Allele Identifier: CA362835638

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18139246T>A (hg19) ; chr6:g.18139015T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139015T>A , CM000668.2:g.18139015T>A	GRCh38
NC_000006.11:g.18139246T>A , CM000668.1:g.18139246T>A	GRCh37
NC_000006.10:g.18247225T>A	NCBI36
NG_012137.2:g.21129A>T
NG_012137.3:g.21129A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.442A>T MANE Select	ENSP00000312304.4:p.Met148Leu
ENST00000309983.4:c.442A>T	ENSP00000312304.4:p.Met148Leu
NM_000367.3:c.442A>T	NP_000358.1:p.Met148Leu
XM_011514839.1:c.442A>T	XP_011513141.1:p.Met148Leu
XM_011514840.1:c.373A>T	XP_011513142.1:p.Met125Leu
NM_000367.4:c.442A>T	NP_000358.1:p.Met148Leu
NM_001346817.1:c.442A>T	NP_001333746.1:p.Met148Leu
NM_001346818.1:c.442A>T	NP_001333747.1:p.Met148Leu
NM_000367.5:c.442A>T MANE Select	NP_000358.1:p.Met148Leu