Canonical Allele Identifier: CA228118

Gene: DPYD

Linked Data

• ClinVar Variation Id: 88975
• ClinVar RCV Id: RCV000086474 ; RCV000410952 ; RCV001787866 ; RCV001787867 ; RCV001787868 ; RCV001787326
• dbSNP Id: rs55886062
• ExAC: 1:97981343 A / C
• gnomAD v2: 1-97981343-A-C
• gnomAD v3: 1-97515787-A-C
• gnomAD v4: 1-97515787-A-C
• MyVariant Identifiers: chr1:g.97981343A>C (hg19) ; chr1:g.97515787A>C (hg38)
• CIViC: CA228118
• PubMed: PMID:10803677 ; PMID:11895907 ; PMID:11988088 ; PMID:16361556 ; PMID:17121937 ; PMID:19530960 ; PMID:19795123 ; PMID:21410976 ; PMID:21498394 ; PMID:22992668 ; PMID:23328581 ; PMID:23588312 ; PMID:23736036 ; PMID:24647007 ; PMID:24923815 ; PMID:25381393 ; PMID:25410891 ; PMID:25796495 ; PMID:26099996 ; PMID:26265035 ; PMID:26603945

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97515787A>C , CM000663.2:g.97515787A>C	GRCh38
NC_000001.10:g.97981343A>C , CM000663.1:g.97981343A>C	GRCh37
NC_000001.9:g.97753931A>C	NCBI36
NG_008807.2:g.410273T>G , LRG_722:g.410273T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1679T>G MANE Select	ENSP00000359211.3:p.Ile560Ser
ENST00000370192.7:c.1679T>G	ENSP00000359211.3:p.Ile560Ser
NM_000110.3:c.1679T>G , LRG_722t1:c.1679T>G	NP_000101.2:p.Ile560Ser
XM_005270562.3:c.1524+33773T>G	XP_005270619.2:n.1524+33773T>G
XM_006710397.2:c.1679T>G	XP_006710460.1:p.Ile560Ser
XM_006710397.3:c.1679T>G	XP_006710460.1:p.Ile560Ser
XM_017000507.1:c.1568T>G	XP_016855996.1:p.Ile523Ser
XM_017000508.2:c.1184T>G	XP_016855997.1:p.Ile395Ser
XM_017000509.2:c.1184T>G	XP_016855998.1:p.Ile395Ser
XM_017000510.1:c.1184T>G	XP_016855999.1:p.Ile395Ser
NM_000110.4:c.1679T>G MANE Select	NP_000101.2:p.Ile560Ser