Canonical Allele Identifier: CA3650093

Gene: TPMT

Linked Data

• dbSNP Id: rs766839260
• ExAC: 6:18130990 C / T
• gnomAD v4: 6-18130759-C-T
• MyVariant Identifiers: chr6:g.18130990C>T (hg19) ; chr6:g.18130759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130759C>T , CM000668.2:g.18130759C>T	GRCh38
NC_000006.11:g.18130990C>T , CM000668.1:g.18130990C>T	GRCh37
NC_000006.10:g.18238969C>T	NCBI36
NG_012137.2:g.29385G>A
NG_012137.3:g.29385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.647G>A MANE Select	ENSP00000312304.4:p.Cys216Tyr
ENST00000309983.4:c.647G>A	ENSP00000312304.4:p.Cys216Tyr
NM_000367.3:c.647G>A	NP_000358.1:p.Cys216Tyr
XM_011514839.1:c.602G>A	XP_011513141.1:p.Cys201Tyr
XM_011514840.1:c.578G>A	XP_011513142.1:p.Cys193Tyr
NM_000367.4:c.647G>A	NP_000358.1:p.Cys216Tyr
NM_001346817.1:c.647G>A	NP_001333746.1:p.Cys216Tyr
NM_001346818.1:c.602G>A	NP_001333747.1:p.Cys201Tyr
NM_000367.5:c.647G>A MANE Select	NP_000358.1:p.Cys216Tyr