Canonical Allele Identifier: CA341376065

Gene: DPYD

Linked Data

• COSMIC: COSM3790377
• MyVariant Identifiers: chr1:g.97915689C>T (hg19) ; chr1:g.97450133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97450133C>T , CM000663.2:g.97450133C>T	GRCh38
NC_000001.10:g.97915689C>T , CM000663.1:g.97915689C>T	GRCh37
NC_000001.9:g.97688277C>T	NCBI36
NG_008807.2:g.475927G>A , LRG_722:g.475927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1831G>A MANE Select	ENSP00000359211.3:p.Glu611Lys
ENST00000370192.7:c.1831G>A	ENSP00000359211.3:p.Glu611Lys
NM_000110.3:c.1831G>A , LRG_722t1:c.1831G>A	NP_000101.2:p.Glu611Lys
XM_005270562.3:c.1615G>A	XP_005270619.2:p.Glu539Lys
XM_006710397.2:c.1831G>A	XP_006710460.1:p.Glu611Lys
XM_006710397.3:c.1831G>A	XP_006710460.1:p.Glu611Lys
XM_017000507.1:c.1720G>A	XP_016855996.1:p.Glu574Lys
XM_017000508.2:c.1336G>A	XP_016855997.1:p.Glu446Lys
XM_017000509.2:c.1336G>A	XP_016855998.1:p.Glu446Lys
XM_017000510.1:c.1336G>A	XP_016855999.1:p.Glu446Lys
NM_000110.4:c.1831G>A MANE Select	NP_000101.2:p.Glu611Lys