Canonical Allele Identifier: CA3650088

Gene: TPMT

Linked Data

• dbSNP Id: rs139392616
• ExAC: 6:18130960 C / T
• gnomAD v2: 6-18130960-C-T
• gnomAD v3: 6-18130729-C-T
• gnomAD v4: 6-18130729-C-T
• MyVariant Identifiers: chr6:g.18130960C>T (hg19) ; chr6:g.18130729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130729C>T , CM000668.2:g.18130729C>T	GRCh38
NC_000006.11:g.18130960C>T , CM000668.1:g.18130960C>T	GRCh37
NC_000006.10:g.18238939C>T	NCBI36
NG_012137.2:g.29415G>A
NG_012137.3:g.29415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.677G>A MANE Select	ENSP00000312304.4:p.Arg226Gln
ENST00000309983.4:c.677G>A	ENSP00000312304.4:p.Arg226Gln
NM_000367.3:c.677G>A	NP_000358.1:p.Arg226Gln
XM_011514839.1:c.632G>A	XP_011513141.1:p.Arg211Gln
XM_011514840.1:c.608G>A	XP_011513142.1:p.Arg203Gln
NM_000367.4:c.677G>A	NP_000358.1:p.Arg226Gln
NM_001346817.1:c.677G>A	NP_001333746.1:p.Arg226Gln
NM_001346818.1:c.632G>A	NP_001333747.1:p.Arg211Gln
NM_000367.5:c.677G>A MANE Select	NP_000358.1:p.Arg226Gln