Canonical Allele Identifier: CA16040801

Gene: DPYD

Linked Data

• ClinVar Variation Id: 370668
• ClinVar RCV Id: RCV000410030
• dbSNP Id: rs1057516671
• gnomAD v4: 1-97450133-C-A
• MyVariant Identifiers: chr1:g.97915689C>A (hg19) ; chr1:g.97450133C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000370192.8:c.1831G>T MANE Select	ENSP00000359211.3:p.Glu611Ter
ENST00000370192.7:c.1831G>T	ENSP00000359211.3:p.Glu611Ter
NM_000110.3:c.1831G>T , LRG_722t1:c.1831G>T	NP_000101.2:p.Glu611Ter
XM_005270562.3:c.1615G>T	XP_005270619.2:p.Glu539Ter
XM_006710397.2:c.1831G>T	XP_006710460.1:p.Glu611Ter
XM_006710397.3:c.1831G>T	XP_006710460.1:p.Glu611Ter
XM_017000507.1:c.1720G>T	XP_016855996.1:p.Glu574Ter
XM_017000508.2:c.1336G>T	XP_016855997.1:p.Glu446Ter
XM_017000509.2:c.1336G>T	XP_016855998.1:p.Glu446Ter
XM_017000510.1:c.1336G>T	XP_016855999.1:p.Glu446Ter
NM_000110.4:c.1831G>T MANE Select	NP_000101.2:p.Glu611Ter