Canonical Allele Identifier: CA512318690
Community Standard Title: NM_001754.5(RUNX1):c.645G>A (p.Lys215=)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34834570C>T , CM000683.2:g.34834570C>T GRCh38
NC_000021.8:g.36206867C>T , CM000683.1:g.36206867C>T GRCh37
NC_000021.7:g.35128737C>T NCBI36
NG_011402.2:g.1155142G>A , LRG_482:g.1155142G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.645G>A MANE Select NP_001745.2:p.Lys215=
ENST00000675419.1:c.645G>A MANE Select ENSP00000501943.1:p.Lys215=
NM_001001890.2:c.564G>A NP_001001890.1:p.Lys188=
NM_001001890.3:c.564G>A NP_001001890.1:p.Lys188=
NM_001122607.1:c.564G>A NP_001116079.1:p.Lys188=
NM_001122607.2:c.564G>A NP_001116079.1:p.Lys188=
NM_001754.4:c.645G>A , LRG_482t1:c.645G>A NP_001745.2:p.Lys215=
ENST00000300305.7:c.645G>A ENSP00000300305.3:p.Lys215=
ENST00000344691.8:c.564G>A ENSP00000340690.4:p.Lys188=
ENST00000358356.9:c.564G>A ENSP00000351123.5:p.Lys188=
ENST00000399237.6:c.609G>A ENSP00000382182.2:p.Lys203=
ENST00000399240.5:c.532+24904G>A ENSP00000382184.1:n.532+24904G>A
ENST00000437180.5:c.645G>A ENSP00000409227.1:p.Lys215=
ENST00000469087.1:n.181G>A
ENST00000482318.5:c.*235G>A ENSP00000477067.1:n.*235G>A
XM_005261068.3:c.609G>A XP_005261125.1:p.Lys203=
XM_005261069.3:c.613+24904G>A XP_005261126.1:n.613+24904G>A
XM_005261069.4:c.613+24904G>A XP_005261126.1:n.613+24904G>A
XM_011529766.1:c.645G>A XP_011528068.1:p.Lys215=
XM_011529766.2:c.645G>A XP_011528068.1:p.Lys215=
XM_011529767.1:c.606G>A XP_011528069.1:p.Lys202=
XM_011529767.2:c.606G>A XP_011528069.1:p.Lys202=
XM_011529768.1:c.574+24904G>A XP_011528070.1:n.574+24904G>A
XM_011529768.2:c.574+24904G>A XP_011528070.1:n.574+24904G>A
XM_011529770.1:c.645G>A XP_011528072.1:p.Lys215=
XM_011529770.2:c.645G>A XP_011528072.1:p.Lys215=
XM_017028487.1:c.492G>A XP_016883976.1:p.Lys164=
XR_937576.1:n.824G>A
XR_937576.2:n.871G>A