Canonical Allele Identifier: CA362832068

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130901A>G (hg19) ; chr6:g.18130670A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130670A>G , CM000668.2:g.18130670A>G	GRCh38
NC_000006.11:g.18130901A>G , CM000668.1:g.18130901A>G	GRCh37
NC_000006.10:g.18238880A>G	NCBI36
NG_012137.2:g.29474T>C
NG_012137.3:g.29474T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.736T>C MANE Select	ENSP00000312304.4:p.Ter246Gln
ENST00000309983.4:c.736T>C	ENSP00000312304.4:p.Ter246Gln
NM_000367.3:c.736T>C	NP_000358.1:p.Ter246Gln
XM_011514839.1:c.691T>C	XP_011513141.1:p.Ter231Gln
XM_011514840.1:c.667T>C	XP_011513142.1:p.Ter223Gln
NM_000367.4:c.736T>C	NP_000358.1:p.Ter246Gln
NM_001346817.1:c.736T>C	NP_001333746.1:p.Ter246Gln
NM_001346818.1:c.691T>C	NP_001333747.1:p.Ter231Gln
NM_000367.5:c.736T>C MANE Select	NP_000358.1:p.Ter246Gln