Canonical Allele Identifier: CA228124

Gene: DPYD

Linked Data

• ClinVar Variation Id: 100094
• ClinVar RCV Id: RCV000086477 ; RCV000249334 ; RCV000603277 ; RCV001787909 ; RCV001787910 ; RCV003891587
• dbSNP Id: rs1801158
• ExAC: 1:97981421 C / T
• gnomAD v2: 1-97981421-C-T
• gnomAD v3: 1-97515865-C-T
• gnomAD v4: 1-97515865-C-T
• MyVariant Identifiers: chr1:g.97981421C>T (hg19) ; chr1:g.97515865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97515865C>T , CM000663.2:g.97515865C>T	GRCh38
NC_000001.10:g.97981421C>T , CM000663.1:g.97981421C>T	GRCh37
NC_000001.9:g.97754009C>T	NCBI36
NG_008807.2:g.410195G>A , LRG_722:g.410195G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370192.8:c.1601G>A MANE Select	ENSP00000359211.3:p.Ser534Asn
ENST00000370192.7:c.1601G>A	ENSP00000359211.3:p.Ser534Asn
NM_000110.3:c.1601G>A , LRG_722t1:c.1601G>A	NP_000101.2:p.Ser534Asn
XM_005270562.3:c.1524+33695G>A	XP_005270619.2:n.1524+33695G>A
XM_006710397.2:c.1601G>A	XP_006710460.1:p.Ser534Asn
XM_006710397.3:c.1601G>A	XP_006710460.1:p.Ser534Asn
XM_017000507.1:c.1490G>A	XP_016855996.1:p.Ser497Asn
XM_017000508.2:c.1106G>A	XP_016855997.1:p.Ser369Asn
XM_017000509.2:c.1106G>A	XP_016855998.1:p.Ser369Asn
XM_017000510.1:c.1106G>A	XP_016855999.1:p.Ser369Asn
NM_000110.4:c.1601G>A MANE Select	NP_000101.2:p.Ser534Asn