Canonical Allele Identifier: CA362832245

Gene: TPMT

Linked Data

• gnomAD v4: 6-18130715-C-T
• MyVariant Identifiers: chr6:g.18130946C>T (hg19) ; chr6:g.18130715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130715C>T , CM000668.2:g.18130715C>T	GRCh38
NC_000006.11:g.18130946C>T , CM000668.1:g.18130946C>T	GRCh37
NC_000006.10:g.18238925C>T	NCBI36
NG_012137.2:g.29429G>A
NG_012137.3:g.29429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.691G>A MANE Select	ENSP00000312304.4:p.Gly231Arg
ENST00000309983.4:c.691G>A	ENSP00000312304.4:p.Gly231Arg
NM_000367.3:c.691G>A	NP_000358.1:p.Gly231Arg
XM_011514839.1:c.646G>A	XP_011513141.1:p.Gly216Arg
XM_011514840.1:c.622G>A	XP_011513142.1:p.Gly208Arg
NM_000367.4:c.691G>A	NP_000358.1:p.Gly231Arg
NM_001346817.1:c.691G>A	NP_001333746.1:p.Gly231Arg
NM_001346818.1:c.646G>A	NP_001333747.1:p.Gly216Arg
NM_000367.5:c.691G>A MANE Select	NP_000358.1:p.Gly231Arg