Canonical Allele Identifier: CA114277

Gene: DPYD

Linked Data

• ClinVar Variation Id: 432
• ClinVar RCV Id: RCV000000460 ; RCV000030868 ; RCV000086468 ; RCV000201291 ; RCV000735355 ; RCV001787337 ; RCV001787359 ; RCV001787360 ; RCV001787361 ; RCV004018525
• dbSNP Id: rs3918290
• ExAC: 1:97915614 C / T
• gnomAD v2: 1-97915614-C-T
• gnomAD v3: 1-97450058-C-T
• gnomAD v4: 1-97450058-C-T
• MyVariant Identifiers: chr1:g.97915614C>T (hg19) ; chr1:g.97450058C>T (hg38)
• CIViC: CA114277
• PubMed: PMID:7832988 ; PMID:8051923 ; PMID:8698850 ; PMID:8892022 ; PMID:9470816 ; PMID:9686374 ; PMID:10071185 ; PMID:10803677 ; PMID:11555601 ; PMID:11895907 ; PMID:12360106 ; PMID:15017333 ; PMID:16151913 ; PMID:17000685 ; PMID:17064846 ; PMID:17121937 ; PMID:17165084 ; PMID:17203168 ; PMID:17335544 ; PMID:17700593 ; PMID:18299612 ; PMID:18443386 ; PMID:18600527 ; PMID:19473056 ; PMID:19530960 ; PMID:19858398 ; PMID:20507294 ; PMID:20809970 ; PMID:20819423 ; PMID:21410976 ; PMID:21498394 ; PMID:21919607 ; PMID:22339448 ; PMID:22992668 ; PMID:23481061 ; PMID:23585145 ; PMID:23603345 ; PMID:23891399 ; PMID:23930673 ; PMID:24167597 ; PMID:24590654 ; PMID:24700034 ; PMID:24817302 ; PMID:25381393 ; PMID:25590979 ; PMID:26099996 ; PMID:26216193 ; PMID:26846104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97450058C>T , CM000663.2:g.97450058C>T	GRCh38
NC_000001.10:g.97915614C>T , CM000663.1:g.97915614C>T	GRCh37
NC_000001.9:g.97688202C>T	NCBI36
NG_008807.2:g.476002G>A , LRG_722:g.476002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1905+1G>A MANE Select	ENSP00000359211.3:n.1905+1G>A
ENST00000370192.7:c.1905+1G>A	ENSP00000359211.3:n.1905+1G>A
NM_000110.3:c.1905+1G>A , LRG_722t1:c.1905+1G>A	NP_000101.2:n.1905+1G>A
XM_005270562.3:c.1689+1G>A	XP_005270619.2:n.1689+1G>A
XM_006710397.2:c.1905+1G>A	XP_006710460.1:n.1905+1G>A
XM_006710397.3:c.1905+1G>A	XP_006710460.1:n.1905+1G>A
XM_017000507.1:c.1794+1G>A	XP_016855996.1:n.1794+1G>A
XM_017000508.2:c.1410+1G>A	XP_016855997.1:n.1410+1G>A
XM_017000509.2:c.1410+1G>A	XP_016855998.1:n.1410+1G>A
XM_017000510.1:c.1410+1G>A	XP_016855999.1:n.1410+1G>A
NM_000110.4:c.1905+1G>A MANE Select	NP_000101.2:n.1905+1G>A