Canonical Allele Identifier: CA963039

Gene: DPYD DPYD-AS1

Linked Data

• dbSNP Id: rs371313778
• ExAC: 1:97700416 C / T
• gnomAD v2: 1-97700416-C-T
• gnomAD v3: 1-97234860-C-T
• gnomAD v4: 1-97234860-C-T
• COSMIC: COSM1250677
• MyVariant Identifiers: chr1:g.97700416C>T (hg19) ; chr1:g.97234860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97234860C>T , CM000663.2:g.97234860C>T	GRCh38
NC_000001.10:g.97700416C>T , CM000663.1:g.97700416C>T	GRCh37
NC_000001.9:g.97473004C>T	NCBI36
NG_008807.2:g.691200G>A , LRG_722:g.691200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.2434G>A (DPYD) MANE Select	ENSP00000359211.3:p.Val812Ile
ENST00000370192.7:c.2434G>A (DPYD)	ENSP00000359211.3:p.Val812Ile
NM_000110.3:c.2434G>A , LRG_722t1:c.2434G>A (DPYD)	NP_000101.2:p.Val812Ile
NR_046590.1:n.65-30554C>T (DPYD-AS1)
XM_005270562.3:c.2218G>A (DPYD)	XP_005270619.2:p.Val740Ile
XM_006710397.2:c.2434G>A (DPYD)	XP_006710460.1:p.Val812Ile
XM_006710397.3:c.2434G>A (DPYD)	XP_006710460.1:p.Val812Ile
XM_017000507.1:c.2323G>A (DPYD)	XP_016855996.1:p.Val775Ile
XM_017000508.2:c.1939G>A (DPYD)	XP_016855997.1:p.Val647Ile
XM_017000509.2:c.1939G>A (DPYD)	XP_016855998.1:p.Val647Ile
XM_017000510.1:c.1939G>A (DPYD)	XP_016855999.1:p.Val647Ile
NM_000110.4:c.2434G>A (DPYD) MANE Select	NP_000101.2:p.Val812Ile