Canonical Allele Identifier: CA10014370
Community Standard Title: NM_001754.5(RUNX1):c.712G>A (p.Val238Ile)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34834503C>T , CM000683.2:g.34834503C>T GRCh38
NC_000021.8:g.36206800C>T , CM000683.1:g.36206800C>T GRCh37
NC_000021.7:g.35128670C>T NCBI36
NG_011402.2:g.1155209G>A , LRG_482:g.1155209G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.712G>A MANE Select NP_001745.2:p.Val238Ile
ENST00000675419.1:c.712G>A MANE Select ENSP00000501943.1:p.Val238Ile
NM_001001890.2:c.631G>A NP_001001890.1:p.Val211Ile
NM_001001890.3:c.631G>A NP_001001890.1:p.Val211Ile
NM_001122607.1:c.631G>A NP_001116079.1:p.Val211Ile
NM_001122607.2:c.631G>A NP_001116079.1:p.Val211Ile
NM_001754.4:c.712G>A , LRG_482t1:c.712G>A NP_001745.2:p.Val238Ile
ENST00000300305.7:c.712G>A ENSP00000300305.3:p.Val238Ile
ENST00000344691.8:c.631G>A ENSP00000340690.4:p.Val211Ile
ENST00000358356.9:c.631G>A ENSP00000351123.5:p.Val211Ile
ENST00000399237.6:c.676G>A ENSP00000382182.2:p.Val226Ile
ENST00000399240.5:c.532+24971G>A ENSP00000382184.1:n.532+24971G>A
ENST00000437180.5:c.712G>A ENSP00000409227.1:p.Val238Ile
ENST00000469087.1:n.248G>A
ENST00000482318.5:c.*302G>A ENSP00000477067.1:n.*302G>A
XM_005261068.3:c.676G>A XP_005261125.1:p.Val226Ile
XM_005261069.3:c.613+24971G>A XP_005261126.1:n.613+24971G>A
XM_005261069.4:c.613+24971G>A XP_005261126.1:n.613+24971G>A
XM_011529766.1:c.712G>A XP_011528068.1:p.Val238Ile
XM_011529766.2:c.712G>A XP_011528068.1:p.Val238Ile
XM_011529767.1:c.673G>A XP_011528069.1:p.Val225Ile
XM_011529767.2:c.673G>A XP_011528069.1:p.Val225Ile
XM_011529768.1:c.574+24971G>A XP_011528070.1:n.574+24971G>A
XM_011529768.2:c.574+24971G>A XP_011528070.1:n.574+24971G>A
XM_011529770.1:c.712G>A XP_011528072.1:p.Val238Ile
XM_011529770.2:c.712G>A XP_011528072.1:p.Val238Ile
XM_017028487.1:c.559G>A XP_016883976.1:p.Val187Ile
XR_937576.1:n.891G>A
XR_937576.2:n.938G>A