Canonical Allele Identifier: CA228118
Gene: DPYD HGNC NCBI

Linked Data

ClinVar Variation Id: 88975
ClinVar RCV Id: RCV001787326 RCV001787866 RCV001787867 RCV001787868
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
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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
Search 100 bp 5'
Search 100 bp 3'