Canonical Allele Identifier: CA3650239

Gene: TPMT

Linked Data

• dbSNP Id: rs749959178
• ExAC: 6:18143887 C / T
• gnomAD v2: 6-18143887-C-T
• gnomAD v4: 6-18143656-C-T
• MyVariant Identifiers: chr6:g.18143887C>T (hg19) ; chr6:g.18143656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18143656C>T , CM000668.2:g.18143656C>T	GRCh38
NC_000006.11:g.18143887C>T , CM000668.1:g.18143887C>T	GRCh37
NC_000006.10:g.18251866C>T	NCBI36
NG_012137.2:g.16488G>A
NG_012137.3:g.16488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.306G>A MANE Select	ENSP00000312304.4:p.Glu102=
ENST00000309983.4:c.306G>A	ENSP00000312304.4:p.Glu102=
NM_000367.3:c.306G>A	NP_000358.1:p.Glu102=
XM_011514839.1:c.306G>A	XP_011513141.1:p.Glu102=
XM_011514840.1:c.237G>A	XP_011513142.1:p.Glu79=
NM_000367.4:c.306G>A	NP_000358.1:p.Glu102=
NM_001346817.1:c.306G>A	NP_001333746.1:p.Glu102=
NM_001346818.1:c.306G>A	NP_001333747.1:p.Glu102=
NM_000367.5:c.306G>A MANE Select	NP_000358.1:p.Glu102=