Canonical Allele Identifier: CA963185

Gene: DPYD

Linked Data

• ClinVar Variation Id: 450621
• ClinVar RCV Id: RCV000521535
• dbSNP Id: rs772254904
• ExAC: 1:97847948 C / T
• gnomAD v2: 1-97847948-C-T
• gnomAD v3: 1-97382392-C-T
• gnomAD v4: 1-97382392-C-T
• MyVariant Identifiers: chr1:g.97847948C>T (hg19) ; chr1:g.97382392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97382392C>T , CM000663.2:g.97382392C>T	GRCh38
NC_000001.10:g.97847948C>T , CM000663.1:g.97847948C>T	GRCh37
NC_000001.9:g.97620536C>T	NCBI36
NG_008807.2:g.543668G>A , LRG_722:g.543668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1974+1G>A MANE Select	ENSP00000359211.3:n.1974+1G>A
ENST00000370192.7:c.1974+1G>A	ENSP00000359211.3:n.1974+1G>A
NM_000110.3:c.1974+1G>A , LRG_722t1:c.1974+1G>A	NP_000101.2:n.1974+1G>A
XM_005270562.3:c.1758+1G>A	XP_005270619.2:n.1758+1G>A
XM_006710397.2:c.1974+1G>A	XP_006710460.1:n.1974+1G>A
XR_947619.1:n.1347-1242C>T
XR_947620.1:n.1125-1242C>T
XR_947621.1:n.1347-1242C>T
XM_006710397.3:c.1974+1G>A	XP_006710460.1:n.1974+1G>A
XM_017000507.1:c.1863+1G>A	XP_016855996.1:n.1863+1G>A
XM_017000508.2:c.1479+1G>A	XP_016855997.1:n.1479+1G>A
XM_017000509.2:c.1479+1G>A	XP_016855998.1:n.1479+1G>A
XM_017000510.1:c.1479+1G>A	XP_016855999.1:n.1479+1G>A
XR_001737686.2:n.692-1242C>T
XR_001737687.1:n.692-1242C>T
XR_001737688.2:n.692-1242C>T
NM_000110.4:c.1974+1G>A MANE Select	NP_000101.2:n.1974+1G>A