Canonical Allele Identifier: CA3650085

Gene: TPMT

Linked Data

• dbSNP Id: rs780065109
• ExAC: 6:18130945 C / A
• gnomAD v2: 6-18130945-C-A
• gnomAD v4: 6-18130714-C-A
• MyVariant Identifiers: chr6:g.18130945C>A (hg19) ; chr6:g.18130714C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130714C>A , CM000668.2:g.18130714C>A	GRCh38
NC_000006.11:g.18130945C>A , CM000668.1:g.18130945C>A	GRCh37
NC_000006.10:g.18238924C>A	NCBI36
NG_012137.2:g.29430G>T
NG_012137.3:g.29430G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.692G>T MANE Select	ENSP00000312304.4:p.Gly231Val
ENST00000309983.4:c.692G>T	ENSP00000312304.4:p.Gly231Val
NM_000367.3:c.692G>T	NP_000358.1:p.Gly231Val
XM_011514839.1:c.647G>T	XP_011513141.1:p.Gly216Val
XM_011514840.1:c.623G>T	XP_011513142.1:p.Gly208Val
NM_000367.4:c.692G>T	NP_000358.1:p.Gly231Val
NM_001346817.1:c.692G>T	NP_001333746.1:p.Gly231Val
NM_001346818.1:c.647G>T	NP_001333747.1:p.Gly216Val
NM_000367.5:c.692G>T MANE Select	NP_000358.1:p.Gly231Val