Canonical Allele Identifier: CA3650086

Gene: TPMT

Linked Data

• dbSNP Id: rs72552736
• ExAC: 6:18130956 A / T
• gnomAD v2: 6-18130956-A-T
• gnomAD v3: 6-18130725-A-T
• gnomAD v4: 6-18130725-A-T
• MyVariant Identifiers: chr6:g.18130956A>T (hg19) ; chr6:g.18130725A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130725A>T , CM000668.2:g.18130725A>T	GRCh38
NC_000006.11:g.18130956A>T , CM000668.1:g.18130956A>T	GRCh37
NC_000006.10:g.18238935A>T	NCBI36
NG_012137.2:g.29419T>A
NG_012137.3:g.29419T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.681T>A MANE Select	ENSP00000312304.4:p.His227Gln
ENST00000309983.4:c.681T>A	ENSP00000312304.4:p.His227Gln
NM_000367.3:c.681T>A	NP_000358.1:p.His227Gln
XM_011514839.1:c.636T>A	XP_011513141.1:p.His212Gln
XM_011514840.1:c.612T>A	XP_011513142.1:p.His204Gln
NM_000367.4:c.681T>A	NP_000358.1:p.His227Gln
NM_001346817.1:c.681T>A	NP_001333746.1:p.His227Gln
NM_001346818.1:c.636T>A	NP_001333747.1:p.His212Gln
NM_000367.5:c.681T>A MANE Select	NP_000358.1:p.His227Gln