Canonical Allele Identifier: CA341377421

Gene: DPYD

Linked Data

• ClinVar Variation Id: 2674954
• ClinVar RCV Id: RCV003467860
• dbSNP Id: rs1214305633
• gnomAD v2: 1-98015138-C-T
• gnomAD v4: 1-97549582-C-T
• MyVariant Identifiers: chr1:g.98015138C>T (hg19) ; chr1:g.97549582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97549582C>T , CM000663.2:g.97549582C>T	GRCh38
NC_000001.10:g.98015138C>T , CM000663.1:g.98015138C>T	GRCh37
NC_000001.9:g.97787726C>T	NCBI36
NG_008807.2:g.376478G>A , LRG_722:g.376478G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1502G>A MANE Select	ENSP00000359211.3:p.Trp501Ter
ENST00000370192.7:c.1502G>A	ENSP00000359211.3:p.Trp501Ter
NM_000110.3:c.1502G>A , LRG_722t1:c.1502G>A	NP_000101.2:p.Trp501Ter
XM_005270562.3:c.1502G>A	XP_005270619.2:p.Trp501Ter
XM_006710397.2:c.1502G>A	XP_006710460.1:p.Trp501Ter
XM_006710397.3:c.1502G>A	XP_006710460.1:p.Trp501Ter
XM_017000507.1:c.1391G>A	XP_016855996.1:p.Trp464Ter
XM_017000508.2:c.1007G>A	XP_016855997.1:p.Trp336Ter
XM_017000509.2:c.1007G>A	XP_016855998.1:p.Trp336Ter
XM_017000510.1:c.1007G>A	XP_016855999.1:p.Trp336Ter
NM_000110.4:c.1502G>A MANE Select	NP_000101.2:p.Trp501Ter