Canonical Allele Identifier: CA16616259
Community Standard Title: NM_001754.5(RUNX1):c.1266G>C (p.Glu422Asp)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792312C>G , CM000683.2:g.34792312C>G GRCh38
NC_000021.8:g.36164609C>G , CM000683.1:g.36164609C>G GRCh37
NC_000021.7:g.35086479C>G NCBI36
NG_011402.2:g.1197400G>C , LRG_482:g.1197400G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.1266G>C MANE Select NP_001745.2:p.Glu422Asp
ENST00000675419.1:c.1266G>C MANE Select ENSP00000501943.1:p.Glu422Asp
NM_001001890.2:c.1185G>C NP_001001890.1:p.Glu395Asp
NM_001001890.3:c.1185G>C NP_001001890.1:p.Glu395Asp
NM_001754.4:c.1266G>C , LRG_482t1:c.1266G>C NP_001745.2:p.Glu422Asp
ENST00000300305.7:c.1266G>C ENSP00000300305.3:p.Glu422Asp
ENST00000344691.8:c.1185G>C ENSP00000340690.4:p.Glu395Asp
ENST00000399240.5:c.993G>C ENSP00000382184.1:p.Glu331Asp
ENST00000437180.5:c.1266G>C ENSP00000409227.1:p.Glu422Asp
ENST00000482318.5:c.*856G>C ENSP00000477067.1:n.*856G>C
XM_005261068.3:c.1230G>C XP_005261125.1:p.Glu410Asp
XM_005261069.3:c.1074G>C XP_005261126.1:p.Glu358Asp
XM_005261069.4:c.1074G>C XP_005261126.1:p.Glu358Asp
XM_011529766.1:c.1266G>C XP_011528068.1:p.Glu422Asp
XM_011529766.2:c.1266G>C XP_011528068.1:p.Glu422Asp
XM_011529767.1:c.1227G>C XP_011528069.1:p.Glu409Asp
XM_011529767.2:c.1227G>C XP_011528069.1:p.Glu409Asp
XM_011529768.1:c.1035G>C XP_011528070.1:p.Glu345Asp
XM_011529768.2:c.1035G>C XP_011528070.1:p.Glu345Asp
XM_017028487.1:c.1113G>C XP_016883976.1:p.Glu371Asp