Canonical Allele Identifier: CA2647680

Gene: XRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142312722G>A , CM000665.2:g.142312722G>A	GRCh38
NC_000003.11:g.142031564G>A , CM000665.1:g.142031564G>A	GRCh37
NC_000003.10:g.143514254G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001282857.2:c.4658C>T MANE Select	NP_001269786.1:p.Ser1553Leu
ENST00000392981.7:c.4658C>T MANE Select	ENSP00000376707.2:p.Ser1553Leu
NM_001282857.1:c.4658C>T	NP_001269786.1:p.Ser1553Leu
NM_019001.4:c.4694C>T	NP_061874.3:p.Ser1565Leu
NM_019001.5:c.4694C>T	NP_061874.3:p.Ser1565Leu
ENST00000264951.8:c.4694C>T	ENSP00000264951.4:p.Ser1565Leu
ENST00000392981.6:c.4658C>T	ENSP00000376707.2:p.Ser1553Leu
ENST00000498077.6:c.3054C>T
XM_011512919.1:c.4697C>T	XP_011511221.1:p.Ser1566Leu
XM_011512919.2:c.4697C>T	XP_011511221.1:p.Ser1566Leu
XM_011512920.1:c.4583C>T	XP_011511222.1:p.Ser1528Leu
XM_011512920.2:c.4583C>T	XP_011511222.1:p.Ser1528Leu
XM_011512921.1:c.4280C>T	XP_011511223.1:p.Ser1427Leu
XM_011512922.1:c.4067C>T	XP_011511224.1:p.Ser1356Leu
XM_011512922.2:c.4067C>T	XP_011511224.1:p.Ser1356Leu
XM_017006640.1:c.4655C>T	XP_016862129.1:p.Ser1552Leu
XM_017006641.1:c.4544C>T	XP_016862130.1:p.Ser1515Leu
XR_001740178.1:n.4798C>T