Canonical Allele Identifier: CA16602488
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376019
dbSNP Id: rs1057519749

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880579C>A , CM000683.2:g.34880579C>A GRCh38
NC_000021.8:g.36252876C>A , CM000683.1:g.36252876C>A GRCh37
NC_000021.7:g.35174746C>A NCBI36
NG_011402.2:g.1109133G>T , LRG_482:g.1109133G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.486G>T MANE Select ENSP00000501943.1:p.Arg162Ser
ENST00000300305.7:c.486G>T ENSP00000300305.3:p.Arg162Ser
ENST00000344691.8:c.405G>T ENSP00000340690.4:p.Arg135Ser
ENST00000358356.9:c.405G>T ENSP00000351123.5:p.Arg135Ser
ENST00000399237.6:c.450G>T ENSP00000382182.2:p.Arg150Ser
ENST00000399240.5:c.405G>T ENSP00000382184.1:p.Arg135Ser
ENST00000437180.5:c.486G>T ENSP00000409227.1:p.Arg162Ser
ENST00000482318.5:c.*76G>T ENSP00000477067.1:n.*76G>T
NM_001001890.2:c.405G>T NP_001001890.1:p.Arg135Ser
NM_001122607.1:c.405G>T NP_001116079.1:p.Arg135Ser
NM_001754.4:c.486G>T , LRG_482t1:c.486G>T NP_001745.2:p.Arg162Ser
XM_005261068.3:c.450G>T XP_005261125.1:p.Arg150Ser
XM_005261069.3:c.486G>T XP_005261126.1:p.Arg162Ser
XM_011529766.1:c.486G>T XP_011528068.1:p.Arg162Ser
XM_011529767.1:c.447G>T XP_011528069.1:p.Arg149Ser
XM_011529768.1:c.447G>T XP_011528070.1:p.Arg149Ser
XM_011529770.1:c.486G>T XP_011528072.1:p.Arg162Ser
XR_937576.1:n.665G>T
XM_005261069.4:c.486G>T XP_005261126.1:p.Arg162Ser
XM_011529766.2:c.486G>T XP_011528068.1:p.Arg162Ser
XM_011529767.2:c.447G>T XP_011528069.1:p.Arg149Ser
XM_011529768.2:c.447G>T XP_011528070.1:p.Arg149Ser
XM_011529770.2:c.486G>T XP_011528072.1:p.Arg162Ser
XM_017028487.1:c.333G>T XP_016883976.1:p.Arg111Ser
XR_937576.2:n.712G>T
NM_001001890.3:c.405G>T NP_001001890.1:p.Arg135Ser
NM_001122607.2:c.405G>T NP_001116079.1:p.Arg135Ser
NM_001754.5:c.486G>T MANE Select NP_001745.2:p.Arg162Ser