Canonical Allele Identifier: CA16616520
Community Standard Title: NM_001754.5(RUNX1):c.805G>C (p.Asp269His)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34834410C>G , CM000683.2:g.34834410C>G GRCh38
NC_000021.8:g.36206707C>G , CM000683.1:g.36206707C>G GRCh37
NC_000021.7:g.35128577C>G NCBI36
NG_011402.2:g.1155302G>C , LRG_482:g.1155302G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.805G>C MANE Select NP_001745.2:p.Asp269His
ENST00000675419.1:c.805G>C MANE Select ENSP00000501943.1:p.Asp269His
NM_001001890.2:c.724G>C NP_001001890.1:p.Asp242His
NM_001001890.3:c.724G>C NP_001001890.1:p.Asp242His
NM_001122607.1:c.724G>C NP_001116079.1:p.Glu242Gln
NM_001122607.2:c.724G>C NP_001116079.1:p.Glu242Gln
NM_001754.4:c.805G>C , LRG_482t1:c.805G>C NP_001745.2:p.Asp269His
ENST00000300305.7:c.805G>C ENSP00000300305.3:p.Asp269His
ENST00000344691.8:c.724G>C ENSP00000340690.4:p.Asp242His
ENST00000358356.9:c.724G>C ENSP00000351123.5:p.Glu242Gln
ENST00000399237.6:c.769G>C
ENST00000399240.5:c.532+25064G>C ENSP00000382184.1:n.532+25064G>C
ENST00000437180.5:c.805G>C ENSP00000409227.1:p.Asp269His
ENST00000469087.1:n.341G>C
ENST00000482318.5:c.*395G>C ENSP00000477067.1:n.*395G>C
XM_005261068.3:c.769G>C XP_005261125.1:p.Asp257His
XM_005261069.3:c.613+25064G>C XP_005261126.1:n.613+25064G>C
XM_005261069.4:c.613+25064G>C XP_005261126.1:n.613+25064G>C
XM_011529766.1:c.805G>C XP_011528068.1:p.Asp269His
XM_011529766.2:c.805G>C XP_011528068.1:p.Asp269His
XM_011529767.1:c.766G>C XP_011528069.1:p.Asp256His
XM_011529767.2:c.766G>C XP_011528069.1:p.Asp256His
XM_011529768.1:c.574+25064G>C XP_011528070.1:n.574+25064G>C
XM_011529768.2:c.574+25064G>C XP_011528070.1:n.574+25064G>C
XM_011529770.1:c.805G>C XP_011528072.1:p.Glu269Gln
XM_011529770.2:c.805G>C XP_011528072.1:p.Glu269Gln
XM_017028487.1:c.652G>C XP_016883976.1:p.Asp218His
XR_937576.1:n.984G>C
XR_937576.2:n.1031G>C