Canonical Allele Identifier: CA2647841

Gene: XRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142332524C>T , CM000665.2:g.142332524C>T	GRCh38
NC_000003.11:g.142051366C>T , CM000665.1:g.142051366C>T	GRCh37
NC_000003.10:g.143534056C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001282857.2:c.4073G>A MANE Select	NP_001269786.1:p.Arg1358Gln
ENST00000392981.7:c.4073G>A MANE Select	ENSP00000376707.2:p.Arg1358Gln
NM_001282857.1:c.4073G>A	NP_001269786.1:p.Arg1358Gln
NM_019001.4:c.4070G>A	NP_061874.3:p.Arg1357Gln
NM_019001.5:c.4070G>A	NP_061874.3:p.Arg1357Gln
ENST00000264951.8:c.4070G>A	ENSP00000264951.4:p.Arg1357Gln
ENST00000392981.6:c.4073G>A	ENSP00000376707.2:p.Arg1358Gln
ENST00000468894.1:n.37G>A
ENST00000489241.1:c.182-100G>A
ENST00000498077.6:c.2469G>A
XM_011512919.1:c.4073G>A	XP_011511221.1:p.Arg1358Gln
XM_011512919.2:c.4073G>A	XP_011511221.1:p.Arg1358Gln
XM_011512920.1:c.4073G>A	XP_011511222.1:p.Arg1358Gln
XM_011512920.2:c.4073G>A	XP_011511222.1:p.Arg1358Gln
XM_011512921.1:c.3656G>A	XP_011511223.1:p.Arg1219Gln
XM_011512922.1:c.3443G>A	XP_011511224.1:p.Arg1148Gln
XM_011512922.2:c.3443G>A	XP_011511224.1:p.Arg1148Gln
XM_011512923.1:c.4073G>A	XP_011511225.1:p.Arg1358Gln
XM_017006640.1:c.4070G>A	XP_016862129.1:p.Arg1357Gln
XM_017006641.1:c.4073G>A	XP_016862130.1:p.Arg1358Gln
XM_017006642.1:c.4063-100G>A	XP_016862131.1:n.4063-100G>A
XR_001740178.1:n.4191G>A