Canonical Allele Identifier: CA419140936

Gene: DPYD

Linked Data

• dbSNP Id: rs1398878455
• gnomAD v2: 1-97847961-G-T
• gnomAD v4: 1-97382405-G-T
• MyVariant Identifiers: chr1:g.97847961G>T (hg19) ; chr1:g.97382405G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97382405G>T , CM000663.2:g.97382405G>T	GRCh38
NC_000001.10:g.97847961G>T , CM000663.1:g.97847961G>T	GRCh37
NC_000001.9:g.97620549G>T	NCBI36
NG_008807.2:g.543655C>A , LRG_722:g.543655C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1962C>A MANE Select	ENSP00000359211.3:p.Ala654=
ENST00000370192.7:c.1962C>A	ENSP00000359211.3:p.Ala654=
NM_000110.3:c.1962C>A , LRG_722t1:c.1962C>A	NP_000101.2:p.Ala654=
XM_005270562.3:c.1746C>A	XP_005270619.2:p.Ala582=
XM_006710397.2:c.1962C>A	XP_006710460.1:p.Ala654=
XR_947619.1:n.1347-1229G>T
XR_947620.1:n.1125-1229G>T
XR_947621.1:n.1347-1229G>T
XM_006710397.3:c.1962C>A	XP_006710460.1:p.Ala654=
XM_017000507.1:c.1851C>A	XP_016855996.1:p.Ala617=
XM_017000508.2:c.1467C>A	XP_016855997.1:p.Ala489=
XM_017000509.2:c.1467C>A	XP_016855998.1:p.Ala489=
XM_017000510.1:c.1467C>A	XP_016855999.1:p.Ala489=
XR_001737686.2:n.692-1229G>T
XR_001737687.1:n.692-1229G>T
XR_001737688.2:n.692-1229G>T
NM_000110.4:c.1962C>A MANE Select	NP_000101.2:p.Ala654=