Canonical Allele Identifier: CA341375761

Gene: DPYD

Linked Data

• gnomAD v4: 1-97382410-G-T
• MyVariant Identifiers: chr1:g.97847966G>T (hg19) ; chr1:g.97382410G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97382410G>T , CM000663.2:g.97382410G>T	GRCh38
NC_000001.10:g.97847966G>T , CM000663.1:g.97847966G>T	GRCh37
NC_000001.9:g.97620554G>T	NCBI36
NG_008807.2:g.543650C>A , LRG_722:g.543650C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1957C>A MANE Select	ENSP00000359211.3:p.Leu653Ile
ENST00000370192.7:c.1957C>A	ENSP00000359211.3:p.Leu653Ile
NM_000110.3:c.1957C>A , LRG_722t1:c.1957C>A	NP_000101.2:p.Leu653Ile
XM_005270562.3:c.1741C>A	XP_005270619.2:p.Leu581Ile
XM_006710397.2:c.1957C>A	XP_006710460.1:p.Leu653Ile
XR_947619.1:n.1347-1224G>T
XR_947620.1:n.1125-1224G>T
XR_947621.1:n.1347-1224G>T
XM_006710397.3:c.1957C>A	XP_006710460.1:p.Leu653Ile
XM_017000507.1:c.1846C>A	XP_016855996.1:p.Leu616Ile
XM_017000508.2:c.1462C>A	XP_016855997.1:p.Leu488Ile
XM_017000509.2:c.1462C>A	XP_016855998.1:p.Leu488Ile
XM_017000510.1:c.1462C>A	XP_016855999.1:p.Leu488Ile
XR_001737686.2:n.692-1224G>T
XR_001737687.1:n.692-1224G>T
XR_001737688.2:n.692-1224G>T
NM_000110.4:c.1957C>A MANE Select	NP_000101.2:p.Leu653Ile