Canonical Allele Identifier: CA84729951
Community Standard Title: NM_001282857.2(XRN1):c.2941T>C (p.Ser981Pro)
Gene: XRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142375835A>G , CM000665.2:g.142375835A>G GRCh38
NC_000003.11:g.142094677A>G , CM000665.1:g.142094677A>G GRCh37
NC_000003.10:g.143577367A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001282857.2:c.2941T>C MANE Select NP_001269786.1:p.Ser981Pro
ENST00000392981.7:c.2941T>C MANE Select ENSP00000376707.2:p.Ser981Pro
NM_001282857.1:c.2941T>C NP_001269786.1:p.Ser981Pro
NM_019001.4:c.2941T>C NP_061874.3:p.Ser981Pro
NM_019001.5:c.2941T>C NP_061874.3:p.Ser981Pro
ENST00000264951.8:c.2941T>C ENSP00000264951.4:p.Ser981Pro
ENST00000392981.6:c.2941T>C ENSP00000376707.2:p.Ser981Pro
ENST00000472625.1:n.157T>C
ENST00000498077.6:c.1337T>C
XM_011512919.1:c.2941T>C XP_011511221.1:p.Ser981Pro
XM_011512919.2:c.2941T>C XP_011511221.1:p.Ser981Pro
XM_011512920.1:c.2941T>C XP_011511222.1:p.Ser981Pro
XM_011512920.2:c.2941T>C XP_011511222.1:p.Ser981Pro
XM_011512921.1:c.2524T>C XP_011511223.1:p.Ser842Pro
XM_011512922.1:c.2311T>C XP_011511224.1:p.Ser771Pro
XM_011512922.2:c.2311T>C XP_011511224.1:p.Ser771Pro
XM_011512923.1:c.2941T>C XP_011511225.1:p.Ser981Pro
XM_017006640.1:c.2941T>C XP_016862129.1:p.Ser981Pro
XM_017006641.1:c.2941T>C XP_016862130.1:p.Ser981Pro
XM_017006642.1:c.2941T>C XP_016862131.1:p.Ser981Pro
XR_001740178.1:n.3059T>C