Canonical Allele Identifier: CA410202468
Gene: RUNX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880558T>G , CM000683.2:g.34880558T>G GRCh38
NC_000021.8:g.36252855T>G , CM000683.1:g.36252855T>G GRCh37
NC_000021.7:g.35174725T>G NCBI36
NG_011402.2:g.1109154A>C , LRG_482:g.1109154A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.507A>C MANE Select ENSP00000501943.1:p.Arg169Ser
ENST00000300305.7:c.507A>C ENSP00000300305.3:p.Arg169Ser
ENST00000344691.8:c.426A>C ENSP00000340690.4:p.Arg142Ser
ENST00000358356.9:c.426A>C ENSP00000351123.5:p.Arg142Ser
ENST00000399237.6:c.471A>C ENSP00000382182.2:p.Arg157Ser
ENST00000399240.5:c.426A>C ENSP00000382184.1:p.Arg142Ser
ENST00000437180.5:c.507A>C ENSP00000409227.1:p.Arg169Ser
ENST00000482318.5:c.*97A>C ENSP00000477067.1:n.*97A>C
NM_001001890.2:c.426A>C NP_001001890.1:p.Arg142Ser
NM_001122607.1:c.426A>C NP_001116079.1:p.Arg142Ser
NM_001754.4:c.507A>C , LRG_482t1:c.507A>C NP_001745.2:p.Arg169Ser
XM_005261068.3:c.471A>C XP_005261125.1:p.Arg157Ser
XM_005261069.3:c.507A>C XP_005261126.1:p.Arg169Ser
XM_011529766.1:c.507A>C XP_011528068.1:p.Arg169Ser
XM_011529767.1:c.468A>C XP_011528069.1:p.Arg156Ser
XM_011529768.1:c.468A>C XP_011528070.1:p.Arg156Ser
XM_011529770.1:c.507A>C XP_011528072.1:p.Arg169Ser
XR_937576.1:n.686A>C
XM_005261069.4:c.507A>C XP_005261126.1:p.Arg169Ser
XM_011529766.2:c.507A>C XP_011528068.1:p.Arg169Ser
XM_011529767.2:c.468A>C XP_011528069.1:p.Arg156Ser
XM_011529768.2:c.468A>C XP_011528070.1:p.Arg156Ser
XM_011529770.2:c.507A>C XP_011528072.1:p.Arg169Ser
XM_017028487.1:c.354A>C XP_016883976.1:p.Arg118Ser
XR_937576.2:n.733A>C
NM_001001890.3:c.426A>C NP_001001890.1:p.Arg142Ser
NM_001122607.2:c.426A>C NP_001116079.1:p.Arg142Ser
NM_001754.5:c.507A>C MANE Select NP_001745.2:p.Arg169Ser