Canonical Allele Identifier: CA10610865

Gene: DPYD

Linked Data

• ClinVar Variation Id: 298289
• ClinVar RCV Id: RCV000331526
• dbSNP Id: rs886046577
• MyVariant Identifiers: chr1:g.97981442G>A (hg19) ; chr1:g.97515886G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97515886G>A , CM000663.2:g.97515886G>A	GRCh38
NC_000001.10:g.97981442G>A , CM000663.1:g.97981442G>A	GRCh37
NC_000001.9:g.97754030G>A	NCBI36
NG_008807.2:g.410174C>T , LRG_722:g.410174C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1580C>T MANE Select	ENSP00000359211.3:p.Pro527Leu
ENST00000370192.7:c.1580C>T	ENSP00000359211.3:p.Pro527Leu
NM_000110.3:c.1580C>T , LRG_722t1:c.1580C>T	NP_000101.2:p.Pro527Leu
XM_005270562.3:c.1524+33674C>T	XP_005270619.2:n.1524+33674C>T
XM_006710397.2:c.1580C>T	XP_006710460.1:p.Pro527Leu
XM_006710397.3:c.1580C>T	XP_006710460.1:p.Pro527Leu
XM_017000507.1:c.1469C>T	XP_016855996.1:p.Pro490Leu
XM_017000508.2:c.1085C>T	XP_016855997.1:p.Pro362Leu
XM_017000509.2:c.1085C>T	XP_016855998.1:p.Pro362Leu
XM_017000510.1:c.1085C>T	XP_016855999.1:p.Pro362Leu
NM_000110.4:c.1580C>T MANE Select	NP_000101.2:p.Pro527Leu