Canonical Allele Identifier: CA16040802

Gene: DPYD

Linked Data

• ClinVar Variation Id: 371053
• ClinVar RCV Id: RCV000409394 ; RCV000760487 ; RCV003409565
• dbSNP Id: rs1057516968
• gnomAD v2: 1-97981341-G-A
• gnomAD v3: 1-97515785-G-A
• gnomAD v4: 1-97515785-G-A
• COSMIC: COSM298652
• MyVariant Identifiers: chr1:g.97981341G>A (hg19) ; chr1:g.97515785G>A (hg38)
• PubMed: PMID:26804652

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97515785G>A , CM000663.2:g.97515785G>A	GRCh38
NC_000001.10:g.97981341G>A , CM000663.1:g.97981341G>A	GRCh37
NC_000001.9:g.97753929G>A	NCBI36
NG_008807.2:g.410275C>T , LRG_722:g.410275C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370192.8:c.1681C>T MANE Select	ENSP00000359211.3:p.Arg561Ter
ENST00000370192.7:c.1681C>T	ENSP00000359211.3:p.Arg561Ter
NM_000110.3:c.1681C>T , LRG_722t1:c.1681C>T	NP_000101.2:p.Arg561Ter
XM_005270562.3:c.1524+33775C>T	XP_005270619.2:n.1524+33775C>T
XM_006710397.2:c.1681C>T	XP_006710460.1:p.Arg561Ter
XM_006710397.3:c.1681C>T	XP_006710460.1:p.Arg561Ter
XM_017000507.1:c.1570C>T	XP_016855996.1:p.Arg524Ter
XM_017000508.2:c.1186C>T	XP_016855997.1:p.Arg396Ter
XM_017000509.2:c.1186C>T	XP_016855998.1:p.Arg396Ter
XM_017000510.1:c.1186C>T	XP_016855999.1:p.Arg396Ter
NM_000110.4:c.1681C>T MANE Select	NP_000101.2:p.Arg561Ter