Canonical Allele Identifier: CA320255629
Community Standard Title: NM_001754.5(RUNX1):c.849G>C (p.Gln283His)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34799419C>G , CM000683.2:g.34799419C>G GRCh38
NC_000021.8:g.36171716C>G , CM000683.1:g.36171716C>G GRCh37
NC_000021.7:g.35093586C>G NCBI36
NG_011402.2:g.1190293G>C , LRG_482:g.1190293G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.849G>C MANE Select NP_001745.2:p.Gln283His
ENST00000675419.1:c.849G>C MANE Select ENSP00000501943.1:p.Gln283His
NM_001001890.2:c.768G>C NP_001001890.1:p.Gln256His
NM_001001890.3:c.768G>C NP_001001890.1:p.Gln256His
NM_001754.4:c.849G>C , LRG_482t1:c.849G>C NP_001745.2:p.Gln283His
ENST00000300305.7:c.849G>C ENSP00000300305.3:p.Gln283His
ENST00000344691.8:c.768G>C ENSP00000340690.4:p.Gln256His
ENST00000399240.5:c.576G>C ENSP00000382184.1:p.Gln192His
ENST00000437180.5:c.849G>C ENSP00000409227.1:p.Gln283His
ENST00000482318.5:c.*439G>C ENSP00000477067.1:n.*439G>C
XM_005261068.3:c.813G>C XP_005261125.1:p.Gln271His
XM_005261069.3:c.657G>C XP_005261126.1:p.Gln219His
XM_005261069.4:c.657G>C XP_005261126.1:p.Gln219His
XM_011529766.1:c.849G>C XP_011528068.1:p.Gln283His
XM_011529766.2:c.849G>C XP_011528068.1:p.Gln283His
XM_011529767.1:c.810G>C XP_011528069.1:p.Gln270His
XM_011529767.2:c.810G>C XP_011528069.1:p.Gln270His
XM_011529768.1:c.618G>C XP_011528070.1:p.Gln206His
XM_011529768.2:c.618G>C XP_011528070.1:p.Gln206His
XM_017028487.1:c.696G>C XP_016883976.1:p.Gln232His
XR_937576.1:n.1028G>C
XR_937576.2:n.1075G>C