Canonical Allele Identifier: CA10014384
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 239052
dbSNP Id: rs145230602

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34834561G>A , CM000683.2:g.34834561G>A GRCh38
NC_000021.8:g.36206858G>A , CM000683.1:g.36206858G>A GRCh37
NC_000021.7:g.35128728G>A NCBI36
NG_011402.2:g.1155151C>T , LRG_482:g.1155151C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.654C>T MANE Select ENSP00000501943.1:p.Ser218=
ENST00000300305.7:c.654C>T ENSP00000300305.3:p.Ser218=
ENST00000344691.8:c.573C>T ENSP00000340690.4:p.Ser191=
ENST00000358356.9:c.573C>T ENSP00000351123.5:p.Ser191=
ENST00000399237.6:c.618C>T ENSP00000382182.2:p.Ser206=
ENST00000399240.5:c.532+24913C>T ENSP00000382184.1:n.532+24913C>T
ENST00000437180.5:c.654C>T ENSP00000409227.1:p.Ser218=
ENST00000469087.1:n.190C>T
ENST00000482318.5:c.*244C>T ENSP00000477067.1:n.*244C>T
NM_001001890.2:c.573C>T NP_001001890.1:p.Ser191=
NM_001122607.1:c.573C>T NP_001116079.1:p.Ser191=
NM_001754.4:c.654C>T , LRG_482t1:c.654C>T NP_001745.2:p.Ser218=
XM_005261068.3:c.618C>T XP_005261125.1:p.Ser206=
XM_005261069.3:c.613+24913C>T XP_005261126.1:n.613+24913C>T
XM_011529766.1:c.654C>T XP_011528068.1:p.Ser218=
XM_011529767.1:c.615C>T XP_011528069.1:p.Ser205=
XM_011529768.1:c.574+24913C>T XP_011528070.1:n.574+24913C>T
XM_011529770.1:c.654C>T XP_011528072.1:p.Ser218=
XR_937576.1:n.833C>T
XM_005261069.4:c.613+24913C>T XP_005261126.1:n.613+24913C>T
XM_011529766.2:c.654C>T XP_011528068.1:p.Ser218=
XM_011529767.2:c.615C>T XP_011528069.1:p.Ser205=
XM_011529768.2:c.574+24913C>T XP_011528070.1:n.574+24913C>T
XM_011529770.2:c.654C>T XP_011528072.1:p.Ser218=
XM_017028487.1:c.501C>T XP_016883976.1:p.Ser167=
XR_937576.2:n.880C>T
NM_001001890.3:c.573C>T NP_001001890.1:p.Ser191=
NM_001122607.2:c.573C>T NP_001116079.1:p.Ser191=
NM_001754.5:c.654C>T MANE Select NP_001745.2:p.Ser218=