Canonical Allele Identifier: CA410202678
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2752186
ClinVar RCV Id: RCV003515020
dbSNP Id: rs2146362802

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880658T>A , CM000683.2:g.34880658T>A GRCh38
NC_000021.8:g.36252955T>A , CM000683.1:g.36252955T>A GRCh37
NC_000021.7:g.35174825T>A NCBI36
NG_011402.2:g.1109054A>T , LRG_482:g.1109054A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.407A>T MANE Select ENSP00000501943.1:p.Asn136Ile
ENST00000300305.7:c.407A>T ENSP00000300305.3:p.Asn136Ile
ENST00000344691.8:c.326A>T ENSP00000340690.4:p.Asn109Ile
ENST00000358356.9:c.326A>T ENSP00000351123.5:p.Asn109Ile
ENST00000399237.6:c.371A>T ENSP00000382182.2:p.Asn124Ile
ENST00000399240.5:c.326A>T ENSP00000382184.1:p.Asn109Ile
ENST00000437180.5:c.407A>T ENSP00000409227.1:p.Asn136Ile
ENST00000455571.5:c.368A>T ENSP00000388189.1:p.Asn123Ile
ENST00000482318.5:c.114A>T ENSP00000477067.1:p.Gln38His
NM_001001890.2:c.326A>T NP_001001890.1:p.Asn109Ile
NM_001122607.1:c.326A>T NP_001116079.1:p.Asn109Ile
NM_001754.4:c.407A>T , LRG_482t1:c.407A>T NP_001745.2:p.Asn136Ile
XM_005261068.3:c.371A>T XP_005261125.1:p.Asn124Ile
XM_005261069.3:c.407A>T XP_005261126.1:p.Asn136Ile
XM_011529766.1:c.407A>T XP_011528068.1:p.Asn136Ile
XM_011529767.1:c.368A>T XP_011528069.1:p.Asn123Ile
XM_011529768.1:c.368A>T XP_011528070.1:p.Asn123Ile
XM_011529770.1:c.407A>T XP_011528072.1:p.Asn136Ile
XR_937576.1:n.586A>T
XM_005261069.4:c.407A>T XP_005261126.1:p.Asn136Ile
XM_011529766.2:c.407A>T XP_011528068.1:p.Asn136Ile
XM_011529767.2:c.368A>T XP_011528069.1:p.Asn123Ile
XM_011529768.2:c.368A>T XP_011528070.1:p.Asn123Ile
XM_011529770.2:c.407A>T XP_011528072.1:p.Asn136Ile
XM_017028487.1:c.254A>T XP_016883976.1:p.Asn85Ile
XR_937576.2:n.633A>T
NM_001001890.3:c.326A>T NP_001001890.1:p.Asn109Ile
NM_001122607.2:c.326A>T NP_001116079.1:p.Asn109Ile
NM_001754.5:c.407A>T MANE Select NP_001745.2:p.Asn136Ile