Canonical Allele Identifier: CA362832234

Gene: TPMT

Linked Data

• gnomAD v4: 6-18130712-T-G
• MyVariant Identifiers: chr6:g.18130943T>G (hg19) ; chr6:g.18130712T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130712T>G , CM000668.2:g.18130712T>G	GRCh38
NC_000006.11:g.18130943T>G , CM000668.1:g.18130943T>G	GRCh37
NC_000006.10:g.18238922T>G	NCBI36
NG_012137.2:g.29432A>C
NG_012137.3:g.29432A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.694A>C MANE Select	ENSP00000312304.4:p.Ile232Leu
ENST00000309983.4:c.694A>C	ENSP00000312304.4:p.Ile232Leu
NM_000367.3:c.694A>C	NP_000358.1:p.Ile232Leu
XM_011514839.1:c.649A>C	XP_011513141.1:p.Ile217Leu
XM_011514840.1:c.625A>C	XP_011513142.1:p.Ile209Leu
NM_000367.4:c.694A>C	NP_000358.1:p.Ile232Leu
NM_001346817.1:c.694A>C	NP_001333746.1:p.Ile232Leu
NM_001346818.1:c.649A>C	NP_001333747.1:p.Ile217Leu
NM_000367.5:c.694A>C MANE Select	NP_000358.1:p.Ile232Leu