Canonical Allele Identifier: CA963354

Gene: DPYD

Linked Data

• ClinVar Variation Id: 876976
• ClinVar RCV Id: RCV001102323
• dbSNP Id: rs750147471
• ExAC: 1:98015271 T / C
• gnomAD v2: 1-98015271-T-C
• gnomAD v4: 1-97549715-T-C
• MyVariant Identifiers: chr1:g.98015271T>C (hg19) ; chr1:g.97549715T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97549715T>C , CM000663.2:g.97549715T>C	GRCh38
NC_000001.10:g.98015271T>C , CM000663.1:g.98015271T>C	GRCh37
NC_000001.9:g.97787859T>C	NCBI36
NG_008807.2:g.376345A>G , LRG_722:g.376345A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1369A>G MANE Select	ENSP00000359211.3:p.Asn457Asp
ENST00000370192.7:c.1369A>G	ENSP00000359211.3:p.Asn457Asp
NM_000110.3:c.1369A>G , LRG_722t1:c.1369A>G	NP_000101.2:p.Asn457Asp
XM_005270562.3:c.1369A>G	XP_005270619.2:p.Asn457Asp
XM_006710397.2:c.1369A>G	XP_006710460.1:p.Asn457Asp
XM_006710397.3:c.1369A>G	XP_006710460.1:p.Asn457Asp
XM_017000507.1:c.1258A>G	XP_016855996.1:p.Asn420Asp
XM_017000508.2:c.874A>G	XP_016855997.1:p.Asn292Asp
XM_017000509.2:c.874A>G	XP_016855998.1:p.Asn292Asp
XM_017000510.1:c.874A>G	XP_016855999.1:p.Asn292Asp
NM_000110.4:c.1369A>G MANE Select	NP_000101.2:p.Asn457Asp