Canonical Allele Identifier: CA341378617

Gene: DPYD

Linked Data

• dbSNP Id: rs672601282
• gnomAD v2: 1-97981467-G-T
• MyVariant Identifiers: chr1:g.97981467G>T (hg19) ; chr1:g.97515911G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97515911G>T , CM000663.2:g.97515911G>T	GRCh38
NC_000001.10:g.97981467G>T , CM000663.1:g.97981467G>T	GRCh37
NC_000001.9:g.97754055G>T	NCBI36
NG_008807.2:g.410149C>A , LRG_722:g.410149C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1555C>A MANE Select	ENSP00000359211.3:p.Pro519Thr
ENST00000370192.7:c.1555C>A	ENSP00000359211.3:p.Pro519Thr
NM_000110.3:c.1555C>A , LRG_722t1:c.1555C>A	NP_000101.2:p.Pro519Thr
XM_005270562.3:c.1524+33649C>A	XP_005270619.2:n.1524+33649C>A
XM_006710397.2:c.1555C>A	XP_006710460.1:p.Pro519Thr
XM_006710397.3:c.1555C>A	XP_006710460.1:p.Pro519Thr
XM_017000507.1:c.1444C>A	XP_016855996.1:p.Pro482Thr
XM_017000508.2:c.1060C>A	XP_016855997.1:p.Pro354Thr
XM_017000509.2:c.1060C>A	XP_016855998.1:p.Pro354Thr
XM_017000510.1:c.1060C>A	XP_016855999.1:p.Pro354Thr
NM_000110.4:c.1555C>A MANE Select	NP_000101.2:p.Pro519Thr