Canonical Allele Identifier: CA27518032

Gene: DPYD

Linked Data

• ClinVar Variation Id: 2238929
• ClinVar RCV Id: RCV002751796
• dbSNP Id: rs912917991
• gnomAD v2: 1-98015250-C-T
• gnomAD v4: 1-97549694-C-T
• MyVariant Identifiers: chr1:g.98015250C>T (hg19) ; chr1:g.97549694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97549694C>T , CM000663.2:g.97549694C>T	GRCh38
NC_000001.10:g.98015250C>T , CM000663.1:g.98015250C>T	GRCh37
NC_000001.9:g.97787838C>T	NCBI36
NG_008807.2:g.376366G>A , LRG_722:g.376366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1390G>A MANE Select	ENSP00000359211.3:p.Val464Ile
ENST00000370192.7:c.1390G>A	ENSP00000359211.3:p.Val464Ile
NM_000110.3:c.1390G>A , LRG_722t1:c.1390G>A	NP_000101.2:p.Val464Ile
XM_005270562.3:c.1390G>A	XP_005270619.2:p.Val464Ile
XM_006710397.2:c.1390G>A	XP_006710460.1:p.Val464Ile
XM_006710397.3:c.1390G>A	XP_006710460.1:p.Val464Ile
XM_017000507.1:c.1279G>A	XP_016855996.1:p.Val427Ile
XM_017000508.2:c.895G>A	XP_016855997.1:p.Val299Ile
XM_017000509.2:c.895G>A	XP_016855998.1:p.Val299Ile
XM_017000510.1:c.895G>A	XP_016855999.1:p.Val299Ile
NM_000110.4:c.1390G>A MANE Select	NP_000101.2:p.Val464Ile