Canonical Allele Identifier: CA341375864

Gene: DPYD

Linked Data

• ClinVar Variation Id: 3085642
• ClinVar RCV Id: RCV004376962
• gnomAD v4: 1-97382452-C-A
• MyVariant Identifiers: chr1:g.97848008C>A (hg19) ; chr1:g.97382452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97382452C>A , CM000663.2:g.97382452C>A	GRCh38
NC_000001.10:g.97848008C>A , CM000663.1:g.97848008C>A	GRCh37
NC_000001.9:g.97620596C>A	NCBI36
NG_008807.2:g.543608G>T , LRG_722:g.543608G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1915G>T MANE Select	ENSP00000359211.3:p.Ala639Ser
ENST00000370192.7:c.1915G>T	ENSP00000359211.3:p.Ala639Ser
NM_000110.3:c.1915G>T , LRG_722t1:c.1915G>T	NP_000101.2:p.Ala639Ser
XM_005270562.3:c.1699G>T	XP_005270619.2:p.Ala567Ser
XM_006710397.2:c.1915G>T	XP_006710460.1:p.Ala639Ser
XR_947619.1:n.1347-1182C>A
XR_947620.1:n.1125-1182C>A
XR_947621.1:n.1347-1182C>A
XM_006710397.3:c.1915G>T	XP_006710460.1:p.Ala639Ser
XM_017000507.1:c.1804G>T	XP_016855996.1:p.Ala602Ser
XM_017000508.2:c.1420G>T	XP_016855997.1:p.Ala474Ser
XM_017000509.2:c.1420G>T	XP_016855998.1:p.Ala474Ser
XM_017000510.1:c.1420G>T	XP_016855999.1:p.Ala474Ser
XR_001737686.2:n.692-1182C>A
XR_001737687.1:n.692-1182C>A
XR_001737688.2:n.692-1182C>A
NM_000110.4:c.1915G>T MANE Select	NP_000101.2:p.Ala639Ser