Canonical Allele Identifier: CA2648016

Gene: XRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142357118A>C , CM000665.2:g.142357118A>C	GRCh38
NC_000003.11:g.142075960A>C , CM000665.1:g.142075960A>C	GRCh37
NC_000003.10:g.143558650A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001282857.2:c.3466T>G MANE Select	NP_001269786.1:p.Cys1156Gly
ENST00000392981.7:c.3466T>G MANE Select	ENSP00000376707.2:p.Cys1156Gly
NM_001282857.1:c.3466T>G	NP_001269786.1:p.Cys1156Gly
NM_019001.4:c.3466T>G	NP_061874.3:p.Cys1156Gly
NM_019001.5:c.3466T>G	NP_061874.3:p.Cys1156Gly
ENST00000264951.8:c.3466T>G	ENSP00000264951.4:p.Cys1156Gly
ENST00000392981.6:c.3466T>G	ENSP00000376707.2:p.Cys1156Gly
ENST00000467077.1:n.366T>G
ENST00000498077.6:c.1862T>G
XM_011512919.1:c.3466T>G	XP_011511221.1:p.Cys1156Gly
XM_011512919.2:c.3466T>G	XP_011511221.1:p.Cys1156Gly
XM_011512920.1:c.3466T>G	XP_011511222.1:p.Cys1156Gly
XM_011512920.2:c.3466T>G	XP_011511222.1:p.Cys1156Gly
XM_011512921.1:c.3049T>G	XP_011511223.1:p.Cys1017Gly
XM_011512922.1:c.2836T>G	XP_011511224.1:p.Cys946Gly
XM_011512922.2:c.2836T>G	XP_011511224.1:p.Cys946Gly
XM_011512923.1:c.3466T>G	XP_011511225.1:p.Cys1156Gly
XM_017006640.1:c.3466T>G	XP_016862129.1:p.Cys1156Gly
XM_017006641.1:c.3466T>G	XP_016862130.1:p.Cys1156Gly
XM_017006642.1:c.3466T>G	XP_016862131.1:p.Cys1156Gly
XR_001740178.1:n.3584T>G