Canonical Allele Identifier: CA2387284496
Community Standard Title: NM_001754.5(RUNX1):c.557T= (p.Val186=)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34859530A= , CM000683.2:g.34859530A= GRCh38
NC_000021.8:g.36231827A= , CM000683.1:g.36231827A= GRCh37
NC_000021.7:g.35153697A= NCBI36
NG_011402.2:g.1130182T= , LRG_482:g.1130182T=

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.557T= MANE Select NP_001745.2:p.Val186=
ENST00000675419.1:c.557T= MANE Select ENSP00000501943.1:p.Val186=
NM_001001890.2:c.476T= NP_001001890.1:p.Val159=
NM_001001890.3:c.476T= NP_001001890.1:p.Val159=
NM_001122607.1:c.476T= NP_001116079.1:p.Val159=
NM_001122607.2:c.476T= NP_001116079.1:p.Val159=
NM_001754.4:c.557T= , LRG_482t1:c.557T= NP_001745.2:p.Val186=
ENST00000300305.7:c.557T= ENSP00000300305.3:p.Val186=
ENST00000344691.8:c.476T= ENSP00000340690.4:p.Val159=
ENST00000358356.9:c.476T= ENSP00000351123.5:p.Val159=
ENST00000399237.6:c.521T= ENSP00000382182.2:p.Val174=
ENST00000399240.5:c.476T= ENSP00000382184.1:p.Val159=
ENST00000437180.5:c.557T= ENSP00000409227.1:p.Val186=
ENST00000467577.1:n.49T=
ENST00000482318.5:c.*147T= ENSP00000477067.1:n.*147T=
XM_005261068.3:c.521T= XP_005261125.1:p.Val174=
XM_005261069.3:c.557T= XP_005261126.1:p.Val186=
XM_005261069.4:c.557T= XP_005261126.1:p.Val186=
XM_011529766.1:c.557T= XP_011528068.1:p.Val186=
XM_011529766.2:c.557T= XP_011528068.1:p.Val186=
XM_011529767.1:c.518T= XP_011528069.1:p.Val173=
XM_011529767.2:c.518T= XP_011528069.1:p.Val173=
XM_011529768.1:c.518T= XP_011528070.1:p.Val173=
XM_011529768.2:c.518T= XP_011528070.1:p.Val173=
XM_011529770.1:c.557T= XP_011528072.1:p.Val186=
XM_011529770.2:c.557T= XP_011528072.1:p.Val186=
XM_017028487.1:c.404T= XP_016883976.1:p.Val135=
XR_937576.1:n.736T=
XR_937576.2:n.783T=