Canonical Allele Identifier: CA410202586
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1713291
ClinVar RCV Id: RCV002302875
dbSNP Id: rs2146361672

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880616G>T , CM000683.2:g.34880616G>T GRCh38
NC_000021.8:g.36252913G>T , CM000683.1:g.36252913G>T GRCh37
NC_000021.7:g.35174783G>T NCBI36
NG_011402.2:g.1109096C>A , LRG_482:g.1109096C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.449C>A MANE Select ENSP00000501943.1:p.Ala150Asp
ENST00000300305.7:c.449C>A ENSP00000300305.3:p.Ala150Asp
ENST00000344691.8:c.368C>A ENSP00000340690.4:p.Ala123Asp
ENST00000358356.9:c.368C>A ENSP00000351123.5:p.Ala123Asp
ENST00000399237.6:c.413C>A ENSP00000382182.2:p.Ala138Asp
ENST00000399240.5:c.368C>A ENSP00000382184.1:p.Ala123Asp
ENST00000437180.5:c.449C>A ENSP00000409227.1:p.Ala150Asp
ENST00000455571.5:c.410C>A ENSP00000388189.1:p.Ala137Asp
ENST00000482318.5:c.*39C>A ENSP00000477067.1:n.*39C>A
NM_001001890.2:c.368C>A NP_001001890.1:p.Ala123Asp
NM_001122607.1:c.368C>A NP_001116079.1:p.Ala123Asp
NM_001754.4:c.449C>A , LRG_482t1:c.449C>A NP_001745.2:p.Ala150Asp
XM_005261068.3:c.413C>A XP_005261125.1:p.Ala138Asp
XM_005261069.3:c.449C>A XP_005261126.1:p.Ala150Asp
XM_011529766.1:c.449C>A XP_011528068.1:p.Ala150Asp
XM_011529767.1:c.410C>A XP_011528069.1:p.Ala137Asp
XM_011529768.1:c.410C>A XP_011528070.1:p.Ala137Asp
XM_011529770.1:c.449C>A XP_011528072.1:p.Ala150Asp
XR_937576.1:n.628C>A
XM_005261069.4:c.449C>A XP_005261126.1:p.Ala150Asp
XM_011529766.2:c.449C>A XP_011528068.1:p.Ala150Asp
XM_011529767.2:c.410C>A XP_011528069.1:p.Ala137Asp
XM_011529768.2:c.410C>A XP_011528070.1:p.Ala137Asp
XM_011529770.2:c.449C>A XP_011528072.1:p.Ala150Asp
XM_017028487.1:c.296C>A XP_016883976.1:p.Ala99Asp
XR_937576.2:n.675C>A
NM_001001890.3:c.368C>A NP_001001890.1:p.Ala123Asp
NM_001122607.2:c.368C>A NP_001116079.1:p.Ala123Asp
NM_001754.5:c.449C>A MANE Select NP_001745.2:p.Ala150Asp