Canonical Allele Identifier: CA410203938
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2067605
ClinVar RCV Id: RCV002954039

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886997G>T , CM000683.2:g.34886997G>T GRCh38
NC_000021.8:g.36259294G>T , CM000683.1:g.36259294G>T GRCh37
NC_000021.7:g.35181164G>T NCBI36
NG_011402.2:g.1102715C>A , LRG_482:g.1102715C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.197C>A MANE Select ENSP00000501943.1:p.Ala66Asp
ENST00000300305.7:c.197C>A ENSP00000300305.3:p.Ala66Asp
ENST00000344691.8:c.116C>A ENSP00000340690.4:p.Ala39Asp
ENST00000358356.9:c.116C>A ENSP00000351123.5:p.Ala39Asp
ENST00000399237.6:c.161C>A ENSP00000382182.2:p.Ala54Asp
ENST00000399240.5:c.116C>A ENSP00000382184.1:p.Ala39Asp
ENST00000437180.5:c.197C>A ENSP00000409227.1:p.Ala66Asp
ENST00000455571.5:c.158C>A ENSP00000388189.1:p.Ala53Asp
ENST00000482318.5:c.59-6284C>A ENSP00000477067.1:n.59-6284C>A
NM_001001890.2:c.116C>A NP_001001890.1:p.Ala39Asp
NM_001122607.1:c.116C>A NP_001116079.1:p.Ala39Asp
NM_001754.4:c.197C>A , LRG_482t1:c.197C>A NP_001745.2:p.Ala66Asp
XM_005261068.3:c.161C>A XP_005261125.1:p.Ala54Asp
XM_005261069.3:c.197C>A XP_005261126.1:p.Ala66Asp
XM_011529766.1:c.197C>A XP_011528068.1:p.Ala66Asp
XM_011529767.1:c.158C>A XP_011528069.1:p.Ala53Asp
XM_011529768.1:c.158C>A XP_011528070.1:p.Ala53Asp
XM_011529770.1:c.197C>A XP_011528072.1:p.Ala66Asp
XR_937576.1:n.376C>A
XM_005261069.4:c.197C>A XP_005261126.1:p.Ala66Asp
XM_011529766.2:c.197C>A XP_011528068.1:p.Ala66Asp
XM_011529767.2:c.158C>A XP_011528069.1:p.Ala53Asp
XM_011529768.2:c.158C>A XP_011528070.1:p.Ala53Asp
XM_011529770.2:c.197C>A XP_011528072.1:p.Ala66Asp
XM_017028487.1:c.44C>A XP_016883976.1:p.Ala15Asp
XR_937576.2:n.423C>A
NM_001001890.3:c.116C>A NP_001001890.1:p.Ala39Asp
NM_001122607.2:c.116C>A NP_001116079.1:p.Ala39Asp
NM_001754.5:c.197C>A MANE Select NP_001745.2:p.Ala66Asp