Canonical Allele Identifier: CA448765250

Gene: TPMT

Linked Data

• gnomAD v4: 6-18139003-T-G
• MyVariant Identifiers: chr6:g.18139234T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139003T>G , CM000668.2:g.18139003T>G	GRCh38
NC_000006.11:g.18139234T>G , CM000668.1:g.18139234T>G	GRCh37
NC_000006.10:g.18247213T>G	NCBI36
NG_012137.2:g.21141A>C
NG_012137.3:g.21141A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.454A>C MANE Select	ENSP00000312304.4:p.Arg152=
ENST00000309983.4:c.454A>C	ENSP00000312304.4:p.Arg152=
NM_000367.3:c.454A>C	NP_000358.1:p.Arg152=
XM_011514839.1:c.454A>C	XP_011513141.1:p.Arg152=
XM_011514840.1:c.385A>C	XP_011513142.1:p.Arg129=
NM_000367.4:c.454A>C	NP_000358.1:p.Arg152=
NM_001346817.1:c.454A>C	NP_001333746.1:p.Arg152=
NM_001346818.1:c.454A>C	NP_001333747.1:p.Arg152=
NM_000367.5:c.454A>C MANE Select	NP_000358.1:p.Arg152=