Canonical Allele Identifier: CA410148750
Community Standard Title: NM_001754.5(RUNX1):c.991A>C (p.Ser331Arg)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792587T>G , CM000683.2:g.34792587T>G GRCh38
NC_000021.8:g.36164884T>G , CM000683.1:g.36164884T>G GRCh37
NC_000021.7:g.35086754T>G NCBI36
NG_011402.2:g.1197125A>C , LRG_482:g.1197125A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.991A>C MANE Select NP_001745.2:p.Ser331Arg
ENST00000675419.1:c.991A>C MANE Select ENSP00000501943.1:p.Ser331Arg
NM_001001890.2:c.910A>C NP_001001890.1:p.Ser304Arg
NM_001001890.3:c.910A>C NP_001001890.1:p.Ser304Arg
NM_001754.4:c.991A>C , LRG_482t1:c.991A>C NP_001745.2:p.Ser331Arg
ENST00000300305.7:c.991A>C ENSP00000300305.3:p.Ser331Arg
ENST00000344691.8:c.910A>C ENSP00000340690.4:p.Ser304Arg
ENST00000399240.5:c.718A>C ENSP00000382184.1:p.Ser240Arg
ENST00000437180.5:c.991A>C ENSP00000409227.1:p.Ser331Arg
ENST00000482318.5:c.*581A>C ENSP00000477067.1:n.*581A>C
XM_005261068.3:c.955A>C XP_005261125.1:p.Ser319Arg
XM_005261069.3:c.799A>C XP_005261126.1:p.Ser267Arg
XM_005261069.4:c.799A>C XP_005261126.1:p.Ser267Arg
XM_011529766.1:c.991A>C XP_011528068.1:p.Ser331Arg
XM_011529766.2:c.991A>C XP_011528068.1:p.Ser331Arg
XM_011529767.1:c.952A>C XP_011528069.1:p.Ser318Arg
XM_011529767.2:c.952A>C XP_011528069.1:p.Ser318Arg
XM_011529768.1:c.760A>C XP_011528070.1:p.Ser254Arg
XM_011529768.2:c.760A>C XP_011528070.1:p.Ser254Arg
XM_017028487.1:c.838A>C XP_016883976.1:p.Ser280Arg
XR_937576.1:n.4595A>C
XR_937576.2:n.4642A>C