Canonical Allele Identifier: CA3650083

Gene: TPMT

Linked Data

• dbSNP Id: rs745852340
• ExAC: 6:18130938 G / C
• gnomAD v2: 6-18130938-G-C
• gnomAD v4: 6-18130707-G-C
• MyVariant Identifiers: chr6:g.18130938G>C (hg19) ; chr6:g.18130707G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130707G>C , CM000668.2:g.18130707G>C	GRCh38
NC_000006.11:g.18130938G>C , CM000668.1:g.18130938G>C	GRCh37
NC_000006.10:g.18238917G>C	NCBI36
NG_012137.2:g.29437C>G
NG_012137.3:g.29437C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.699C>G MANE Select	ENSP00000312304.4:p.Asp233Glu
ENST00000309983.4:c.699C>G	ENSP00000312304.4:p.Asp233Glu
NM_000367.3:c.699C>G	NP_000358.1:p.Asp233Glu
XM_011514839.1:c.654C>G	XP_011513141.1:p.Asp218Glu
XM_011514840.1:c.630C>G	XP_011513142.1:p.Asp210Glu
NM_000367.4:c.699C>G	NP_000358.1:p.Asp233Glu
NM_001346817.1:c.699C>G	NP_001333746.1:p.Asp233Glu
NM_001346818.1:c.654C>G	NP_001333747.1:p.Asp218Glu
NM_000367.5:c.699C>G MANE Select	NP_000358.1:p.Asp233Glu