Canonical Allele Identifier: CA410202677
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 581279
ClinVar RCV Id: RCV000705057
dbSNP Id: rs1569079130

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880657A>T , CM000683.2:g.34880657A>T GRCh38
NC_000021.8:g.36252954A>T , CM000683.1:g.36252954A>T GRCh37
NC_000021.7:g.35174824A>T NCBI36
NG_011402.2:g.1109055T>A , LRG_482:g.1109055T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.408T>A MANE Select ENSP00000501943.1:p.Asn136Lys
ENST00000300305.7:c.408T>A ENSP00000300305.3:p.Asn136Lys
ENST00000344691.8:c.327T>A ENSP00000340690.4:p.Asn109Lys
ENST00000358356.9:c.327T>A ENSP00000351123.5:p.Asn109Lys
ENST00000399237.6:c.372T>A ENSP00000382182.2:p.Asn124Lys
ENST00000399240.5:c.327T>A ENSP00000382184.1:p.Asn109Lys
ENST00000437180.5:c.408T>A ENSP00000409227.1:p.Asn136Lys
ENST00000455571.5:c.369T>A ENSP00000388189.1:p.Asn123Lys
ENST00000482318.5:c.115T>A ENSP00000477067.1:p.Ter39Arg
NM_001001890.2:c.327T>A NP_001001890.1:p.Asn109Lys
NM_001122607.1:c.327T>A NP_001116079.1:p.Asn109Lys
NM_001754.4:c.408T>A , LRG_482t1:c.408T>A NP_001745.2:p.Asn136Lys
XM_005261068.3:c.372T>A XP_005261125.1:p.Asn124Lys
XM_005261069.3:c.408T>A XP_005261126.1:p.Asn136Lys
XM_011529766.1:c.408T>A XP_011528068.1:p.Asn136Lys
XM_011529767.1:c.369T>A XP_011528069.1:p.Asn123Lys
XM_011529768.1:c.369T>A XP_011528070.1:p.Asn123Lys
XM_011529770.1:c.408T>A XP_011528072.1:p.Asn136Lys
XR_937576.1:n.587T>A
XM_005261069.4:c.408T>A XP_005261126.1:p.Asn136Lys
XM_011529766.2:c.408T>A XP_011528068.1:p.Asn136Lys
XM_011529767.2:c.369T>A XP_011528069.1:p.Asn123Lys
XM_011529768.2:c.369T>A XP_011528070.1:p.Asn123Lys
XM_011529770.2:c.408T>A XP_011528072.1:p.Asn136Lys
XM_017028487.1:c.255T>A XP_016883976.1:p.Asn85Lys
XR_937576.2:n.634T>A
NM_001001890.3:c.327T>A NP_001001890.1:p.Asn109Lys
NM_001122607.2:c.327T>A NP_001116079.1:p.Asn109Lys
NM_001754.5:c.408T>A MANE Select NP_001745.2:p.Asn136Lys