Canonical Allele Identifier: CA200992

Gene: DPYD

Linked Data

• ClinVar Variation Id: 100092
• ClinVar RCV Id: RCV000086475 ; RCV000174446 ; RCV000389596 ; RCV001787907 ; RCV001787908 ; RCV003891586
• dbSNP Id: rs1801159
• ExAC: 1:97981395 T / C
• gnomAD v2: 1-97981395-T-C
• gnomAD v3: 1-97515839-T-C
• gnomAD v4: 1-97515839-T-C
• MyVariant Identifiers: chr1:g.97981395T>C (hg19) ; chr1:g.97515839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97515839T>C , CM000663.2:g.97515839T>C	GRCh38
NC_000001.10:g.97981395T>C , CM000663.1:g.97981395T>C	GRCh37
NC_000001.9:g.97753983T>C	NCBI36
NG_008807.2:g.410221A>G , LRG_722:g.410221A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1627A>G MANE Select	ENSP00000359211.3:p.Ile543Val
ENST00000370192.7:c.1627A>G	ENSP00000359211.3:p.Ile543Val
NM_000110.3:c.1627A>G , LRG_722t1:c.1627A>G	NP_000101.2:p.Ile543Val
XM_005270562.3:c.1524+33721A>G	XP_005270619.2:n.1524+33721A>G
XM_006710397.2:c.1627A>G	XP_006710460.1:p.Ile543Val
XM_006710397.3:c.1627A>G	XP_006710460.1:p.Ile543Val
XM_017000507.1:c.1516A>G	XP_016855996.1:p.Ile506Val
XM_017000508.2:c.1132A>G	XP_016855997.1:p.Ile378Val
XM_017000509.2:c.1132A>G	XP_016855998.1:p.Ile378Val
XM_017000510.1:c.1132A>G	XP_016855999.1:p.Ile378Val
NM_000110.4:c.1627A>G MANE Select	NP_000101.2:p.Ile543Val