Canonical Allele Identifier: CA362832867

Gene: TPMT

Linked Data

• gnomAD v4: 6-18130782-T-A
• MyVariant Identifiers: chr6:g.18131013T>A (hg19) ; chr6:g.18130782T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130782T>A , CM000668.2:g.18130782T>A	GRCh38
NC_000006.11:g.18131013T>A , CM000668.1:g.18131013T>A	GRCh37
NC_000006.10:g.18238992T>A	NCBI36
NG_012137.2:g.29362A>T
NG_012137.3:g.29362A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.626-2A>T MANE Select	ENSP00000312304.4:n.626-2A>T
ENST00000309983.4:c.626-2A>T	ENSP00000312304.4:n.626-2A>T
NM_000367.3:c.626-2A>T	NP_000358.1:n.626-2A>T
XM_011514839.1:c.581-2A>T	XP_011513141.1:n.581-2A>T
XM_011514840.1:c.557-2A>T	XP_011513142.1:n.557-2A>T
NM_000367.4:c.626-2A>T	NP_000358.1:n.626-2A>T
NM_001346817.1:c.626-2A>T	NP_001333746.1:n.626-2A>T
NM_001346818.1:c.581-2A>T	NP_001333747.1:n.581-2A>T
NM_000367.5:c.626-2A>T MANE Select	NP_000358.1:n.626-2A>T