Canonical Allele Identifier: CA341375805

Gene: DPYD

Linked Data

• MyVariant Identifiers: chr1:g.97847983T>G (hg19) ; chr1:g.97382427T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97382427T>G , CM000663.2:g.97382427T>G	GRCh38
NC_000001.10:g.97847983T>G , CM000663.1:g.97847983T>G	GRCh37
NC_000001.9:g.97620571T>G	NCBI36
NG_008807.2:g.543633A>C , LRG_722:g.543633A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1940A>C MANE Select	ENSP00000359211.3:p.Lys647Thr
ENST00000370192.7:c.1940A>C	ENSP00000359211.3:p.Lys647Thr
NM_000110.3:c.1940A>C , LRG_722t1:c.1940A>C	NP_000101.2:p.Lys647Thr
XM_005270562.3:c.1724A>C	XP_005270619.2:p.Lys575Thr
XM_006710397.2:c.1940A>C	XP_006710460.1:p.Lys647Thr
XR_947619.1:n.1347-1207T>G
XR_947620.1:n.1125-1207T>G
XR_947621.1:n.1347-1207T>G
XM_006710397.3:c.1940A>C	XP_006710460.1:p.Lys647Thr
XM_017000507.1:c.1829A>C	XP_016855996.1:p.Lys610Thr
XM_017000508.2:c.1445A>C	XP_016855997.1:p.Lys482Thr
XM_017000509.2:c.1445A>C	XP_016855998.1:p.Lys482Thr
XM_017000510.1:c.1445A>C	XP_016855999.1:p.Lys482Thr
XR_001737686.2:n.692-1207T>G
XR_001737687.1:n.692-1207T>G
XR_001737688.2:n.692-1207T>G
NM_000110.4:c.1940A>C MANE Select	NP_000101.2:p.Lys647Thr