Canonical Allele Identifier: CA341379350

Gene: DPYD

Linked Data

• dbSNP Id: rs2100950284
• gnomAD v4: 1-97691796-G-A
• MyVariant Identifiers: chr1:g.98157352G>A (hg19) ; chr1:g.97691796G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97691796G>A , CM000663.2:g.97691796G>A	GRCh38
NC_000001.10:g.98157352G>A , CM000663.1:g.98157352G>A	GRCh37
NC_000001.9:g.97929940G>A	NCBI36
NG_008807.2:g.234264C>T , LRG_722:g.234264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.683C>T MANE Select	ENSP00000359211.3:p.Thr228Ile
ENST00000370192.7:c.683C>T	ENSP00000359211.3:p.Thr228Ile
ENST00000474241.1:n.447C>T
NM_000110.3:c.683C>T , LRG_722t1:c.683C>T	NP_000101.2:p.Thr228Ile
XM_005270562.3:c.683C>T	XP_005270619.2:p.Thr228Ile
XM_006710397.2:c.683C>T	XP_006710460.1:p.Thr228Ile
XM_006710397.3:c.683C>T	XP_006710460.1:p.Thr228Ile
XM_017000507.1:c.572C>T	XP_016855996.1:p.Thr191Ile
XM_017000508.2:c.188C>T	XP_016855997.1:p.Thr63Ile
XM_017000509.2:c.188C>T	XP_016855998.1:p.Thr63Ile
XM_017000510.1:c.188C>T	XP_016855999.1:p.Thr63Ile
NM_000110.4:c.683C>T MANE Select	NP_000101.2:p.Thr228Ile