Canonical Allele Identifier: CA2647630

Gene: XRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142311693G>A , CM000665.2:g.142311693G>A	GRCh38
NC_000003.11:g.142030535G>A , CM000665.1:g.142030535G>A	GRCh37
NC_000003.10:g.143513225G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001282857.2:c.4903C>T MANE Select	NP_001269786.1:p.Arg1635Trp
ENST00000392981.7:c.4903C>T MANE Select	ENSP00000376707.2:p.Arg1635Trp
NM_001282857.1:c.4903C>T	NP_001269786.1:p.Arg1635Trp
NM_019001.4:c.4939C>T	NP_061874.3:p.Arg1647Trp
NM_019001.5:c.4939C>T	NP_061874.3:p.Arg1647Trp
ENST00000264951.8:c.4939C>T	ENSP00000264951.4:p.Arg1647Trp
ENST00000392981.6:c.4903C>T	ENSP00000376707.2:p.Arg1635Trp
ENST00000498077.6:c.3299C>T
XM_011512919.1:c.4942C>T	XP_011511221.1:p.Arg1648Trp
XM_011512919.2:c.4942C>T	XP_011511221.1:p.Arg1648Trp
XM_011512920.1:c.4828C>T	XP_011511222.1:p.Arg1610Trp
XM_011512920.2:c.4828C>T	XP_011511222.1:p.Arg1610Trp
XM_011512921.1:c.4525C>T	XP_011511223.1:p.Arg1509Trp
XM_011512922.1:c.4312C>T	XP_011511224.1:p.Arg1438Trp
XM_011512922.2:c.4312C>T	XP_011511224.1:p.Arg1438Trp
XM_017006640.1:c.4900C>T	XP_016862129.1:p.Arg1634Trp
XM_017006641.1:c.4789C>T	XP_016862130.1:p.Arg1597Trp
XR_001740178.1:n.5043C>T