Canonical Allele Identifier: CA410202667
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 967968
ClinVar RCV Id: RCV001243004
dbSNP Id: rs2057888324

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880653C>T , CM000683.2:g.34880653C>T GRCh38
NC_000021.8:g.36252950C>T , CM000683.1:g.36252950C>T GRCh37
NC_000021.7:g.35174820C>T NCBI36
NG_011402.2:g.1109059G>A , LRG_482:g.1109059G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.412G>A MANE Select ENSP00000501943.1:p.Glu138Lys
ENST00000300305.7:c.412G>A ENSP00000300305.3:p.Glu138Lys
ENST00000344691.8:c.331G>A ENSP00000340690.4:p.Glu111Lys
ENST00000358356.9:c.331G>A ENSP00000351123.5:p.Glu111Lys
ENST00000399237.6:c.376G>A ENSP00000382182.2:p.Glu126Lys
ENST00000399240.5:c.331G>A ENSP00000382184.1:p.Glu111Lys
ENST00000437180.5:c.412G>A ENSP00000409227.1:p.Glu138Lys
ENST00000455571.5:c.373G>A ENSP00000388189.1:p.Glu125Lys
ENST00000482318.5:c.*2G>A ENSP00000477067.1:n.*2G>A
NM_001001890.2:c.331G>A NP_001001890.1:p.Glu111Lys
NM_001122607.1:c.331G>A NP_001116079.1:p.Glu111Lys
NM_001754.4:c.412G>A , LRG_482t1:c.412G>A NP_001745.2:p.Glu138Lys
XM_005261068.3:c.376G>A XP_005261125.1:p.Glu126Lys
XM_005261069.3:c.412G>A XP_005261126.1:p.Glu138Lys
XM_011529766.1:c.412G>A XP_011528068.1:p.Glu138Lys
XM_011529767.1:c.373G>A XP_011528069.1:p.Glu125Lys
XM_011529768.1:c.373G>A XP_011528070.1:p.Glu125Lys
XM_011529770.1:c.412G>A XP_011528072.1:p.Glu138Lys
XR_937576.1:n.591G>A
XM_005261069.4:c.412G>A XP_005261126.1:p.Glu138Lys
XM_011529766.2:c.412G>A XP_011528068.1:p.Glu138Lys
XM_011529767.2:c.373G>A XP_011528069.1:p.Glu125Lys
XM_011529768.2:c.373G>A XP_011528070.1:p.Glu125Lys
XM_011529770.2:c.412G>A XP_011528072.1:p.Glu138Lys
XM_017028487.1:c.259G>A XP_016883976.1:p.Glu87Lys
XR_937576.2:n.638G>A
NM_001001890.3:c.331G>A NP_001001890.1:p.Glu111Lys
NM_001122607.2:c.331G>A NP_001116079.1:p.Glu111Lys
NM_001754.5:c.412G>A MANE Select NP_001745.2:p.Glu138Lys