Canonical Allele Identifier: CA963062

Gene: DPYD DPYD-AS1

Linked Data

• ClinVar Variation Id: 287480
• ClinVar RCV Id: RCV000281091 ; RCV000671369 ; RCV001788190 ; RCV002518984 ; RCV003920127
• dbSNP Id: rs56005131
• ExAC: 1:97700547 G / T
• gnomAD v2: 1-97700547-G-T
• gnomAD v3: 1-97234991-G-T
• gnomAD v4: 1-97234991-G-T
• MyVariant Identifiers: chr1:g.97700547G>T (hg19) ; chr1:g.97234991G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97234991G>T , CM000663.2:g.97234991G>T	GRCh38
NC_000001.10:g.97700547G>T , CM000663.1:g.97700547G>T	GRCh37
NC_000001.9:g.97473135G>T	NCBI36
NG_008807.2:g.691069C>A , LRG_722:g.691069C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.2303C>A (DPYD) MANE Select	ENSP00000359211.3:p.Thr768Lys
ENST00000370192.7:c.2303C>A (DPYD)	ENSP00000359211.3:p.Thr768Lys
NM_000110.3:c.2303C>A , LRG_722t1:c.2303C>A (DPYD)	NP_000101.2:p.Thr768Lys
NR_046590.1:n.65-30423G>T (DPYD-AS1)
XM_005270562.3:c.2087C>A (DPYD)	XP_005270619.2:p.Thr696Lys
XM_006710397.2:c.2303C>A (DPYD)	XP_006710460.1:p.Thr768Lys
XM_006710397.3:c.2303C>A (DPYD)	XP_006710460.1:p.Thr768Lys
XM_017000507.1:c.2192C>A (DPYD)	XP_016855996.1:p.Thr731Lys
XM_017000508.2:c.1808C>A (DPYD)	XP_016855997.1:p.Thr603Lys
XM_017000509.2:c.1808C>A (DPYD)	XP_016855998.1:p.Thr603Lys
XM_017000510.1:c.1808C>A (DPYD)	XP_016855999.1:p.Thr603Lys
NM_000110.4:c.2303C>A (DPYD) MANE Select	NP_000101.2:p.Thr768Lys