Canonical Allele Identifier: CA114278

Gene: DPYD

Linked Data

• ClinVar Variation Id: 435
• ClinVar RCV Id: RCV000000464 ; RCV000711510 ; RCV001787362 ; RCV002247229 ; RCV001787363
• dbSNP Id: rs1801265
• gnomAD v3: 1-97883329-A-G
• gnomAD v4: 1-97883329-A-G
• MyVariant Identifiers: chr1:g.97883329A>G (hg38)
• PubMed: PMID:9266349 ; PMID:9439663

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97883329A>G , CM000663.2:g.97883329A>G	GRCh38
NG_008807.2:g.42731T>C , LRG_722:g.42731T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.85T>C MANE Select	ENSP00000359211.3:p.Cys29Arg
ENST00000646851.1:n.734T>C
ENST00000306031.5:c.85T>C	ENSP00000307107.5:p.Cys29Arg
ENST00000370192.7:c.85T>C	ENSP00000359211.3:p.Cys29Arg
ENST00000460019.1:n.160T>C
NM_000110.3:c.85T>C , LRG_722t1:c.85T>C	NP_000101.2:p.Cys29Arg
NM_001160301.1:c.85T>C , LRG_722t2:c.85T>C	NP_001153773.1:p.Cys29Arg
XM_005270562.3:c.85T>C	XP_005270619.2:p.Cys29Arg
XM_006710397.2:c.85T>C	XP_006710460.1:p.Cys29Arg
XM_006710397.3:c.85T>C	XP_006710460.1:p.Cys29Arg
XM_017000507.1:c.39+37555T>C	XP_016855996.1:n.39+37555T>C
XM_017000508.2:c.-626T>C	XP_016855997.1:n.-626T>C
XM_017000509.2:c.-524T>C	XP_016855998.1:n.-524T>C
XM_017000510.1:c.-459+37555T>C	XP_016855999.1:n.-459+37555T>C
XR_001737014.1:n.222T>C
NM_000110.4:c.85T>C MANE Select	NP_000101.2:p.Cys29Arg