Canonical Allele Identifier: CA3650089

Gene: TPMT

Linked Data

• dbSNP Id: rs761990479
• ExAC: 6:18130961 G / A
• gnomAD v2: 6-18130961-G-A
• gnomAD v3: 6-18130730-G-A
• gnomAD v4: 6-18130730-G-A
• MyVariant Identifiers: chr6:g.18130961G>A (hg19) ; chr6:g.18130730G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130730G>A , CM000668.2:g.18130730G>A	GRCh38
NC_000006.11:g.18130961G>A , CM000668.1:g.18130961G>A	GRCh37
NC_000006.10:g.18238940G>A	NCBI36
NG_012137.2:g.29414C>T
NG_012137.3:g.29414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.676C>T MANE Select	ENSP00000312304.4:p.Arg226Ter
ENST00000309983.4:c.676C>T	ENSP00000312304.4:p.Arg226Ter
NM_000367.3:c.676C>T	NP_000358.1:p.Arg226Ter
XM_011514839.1:c.631C>T	XP_011513141.1:p.Arg211Ter
XM_011514840.1:c.607C>T	XP_011513142.1:p.Arg203Ter
NM_000367.4:c.676C>T	NP_000358.1:p.Arg226Ter
NM_001346817.1:c.676C>T	NP_001333746.1:p.Arg226Ter
NM_001346818.1:c.631C>T	NP_001333747.1:p.Arg211Ter
NM_000367.5:c.676C>T MANE Select	NP_000358.1:p.Arg226Ter