Canonical Allele Identifier: CA512232267
Community Standard Title: NM_001754.5(RUNX1):c.849G>A (p.Gln283=)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.849G>A MANE Select NP_001745.2:p.Gln283=
ENST00000675419.1:c.849G>A MANE Select ENSP00000501943.1:p.Gln283=
NM_001001890.2:c.768G>A NP_001001890.1:p.Gln256=
NM_001001890.3:c.768G>A NP_001001890.1:p.Gln256=
NM_001754.4:c.849G>A , LRG_482t1:c.849G>A NP_001745.2:p.Gln283=
ENST00000300305.7:c.849G>A ENSP00000300305.3:p.Gln283=
ENST00000344691.8:c.768G>A ENSP00000340690.4:p.Gln256=
ENST00000399240.5:c.576G>A ENSP00000382184.1:p.Gln192=
ENST00000437180.5:c.849G>A ENSP00000409227.1:p.Gln283=
ENST00000482318.5:c.*439G>A ENSP00000477067.1:n.*439G>A
XM_005261068.3:c.813G>A XP_005261125.1:p.Gln271=
XM_005261069.3:c.657G>A XP_005261126.1:p.Gln219=
XM_005261069.4:c.657G>A XP_005261126.1:p.Gln219=
XM_011529766.1:c.849G>A XP_011528068.1:p.Gln283=
XM_011529766.2:c.849G>A XP_011528068.1:p.Gln283=
XM_011529767.1:c.810G>A XP_011528069.1:p.Gln270=
XM_011529767.2:c.810G>A XP_011528069.1:p.Gln270=
XM_011529768.1:c.618G>A XP_011528070.1:p.Gln206=
XM_011529768.2:c.618G>A XP_011528070.1:p.Gln206=
XM_017028487.1:c.696G>A XP_016883976.1:p.Gln232=
XR_937576.1:n.1028G>A
XR_937576.2:n.1075G>A