Canonical Allele Identifier: CA341379191

Gene: DPYD

Linked Data

• gnomAD v4: 1-97691724-C-A
• COSMIC: COSM74430
• MyVariant Identifiers: chr1:g.98157280C>A (hg19) ; chr1:g.97691724C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97691724C>A , CM000663.2:g.97691724C>A	GRCh38
NC_000001.10:g.98157280C>A , CM000663.1:g.98157280C>A	GRCh37
NC_000001.9:g.97929868C>A	NCBI36
NG_008807.2:g.234336G>T , LRG_722:g.234336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.755G>T MANE Select	ENSP00000359211.3:p.Gly252Val
ENST00000370192.7:c.755G>T	ENSP00000359211.3:p.Gly252Val
ENST00000474241.1:n.519G>T
NM_000110.3:c.755G>T , LRG_722t1:c.755G>T	NP_000101.2:p.Gly252Val
XM_005270562.3:c.755G>T	XP_005270619.2:p.Gly252Val
XM_006710397.2:c.755G>T	XP_006710460.1:p.Gly252Val
XM_006710397.3:c.755G>T	XP_006710460.1:p.Gly252Val
XM_017000507.1:c.644G>T	XP_016855996.1:p.Gly215Val
XM_017000508.2:c.260G>T	XP_016855997.1:p.Gly87Val
XM_017000509.2:c.260G>T	XP_016855998.1:p.Gly87Val
XM_017000510.1:c.260G>T	XP_016855999.1:p.Gly87Val
NM_000110.4:c.755G>T MANE Select	NP_000101.2:p.Gly252Val