Canonical Allele Identifier: CA410207187
Community Standard Title: NM_001754.5(RUNX1):c.623A>G (p.Gln208Arg)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34834592T>C , CM000683.2:g.34834592T>C GRCh38
NC_000021.8:g.36206889T>C , CM000683.1:g.36206889T>C GRCh37
NC_000021.7:g.35128759T>C NCBI36
NG_011402.2:g.1155120A>G , LRG_482:g.1155120A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.623A>G MANE Select NP_001745.2:p.Gln208Arg
ENST00000675419.1:c.623A>G MANE Select ENSP00000501943.1:p.Gln208Arg
NM_001001890.2:c.542A>G NP_001001890.1:p.Gln181Arg
NM_001001890.3:c.542A>G NP_001001890.1:p.Gln181Arg
NM_001122607.1:c.542A>G NP_001116079.1:p.Gln181Arg
NM_001122607.2:c.542A>G NP_001116079.1:p.Gln181Arg
NM_001754.4:c.623A>G , LRG_482t1:c.623A>G NP_001745.2:p.Gln208Arg
ENST00000300305.7:c.623A>G ENSP00000300305.3:p.Gln208Arg
ENST00000344691.8:c.542A>G ENSP00000340690.4:p.Gln181Arg
ENST00000358356.9:c.542A>G ENSP00000351123.5:p.Gln181Arg
ENST00000399237.6:c.587A>G ENSP00000382182.2:p.Gln196Arg
ENST00000399240.5:c.532+24882A>G ENSP00000382184.1:n.532+24882A>G
ENST00000437180.5:c.623A>G ENSP00000409227.1:p.Gln208Arg
ENST00000469087.1:n.159A>G
ENST00000482318.5:c.*213A>G ENSP00000477067.1:n.*213A>G
XM_005261068.3:c.587A>G XP_005261125.1:p.Gln196Arg
XM_005261069.3:c.613+24882A>G XP_005261126.1:n.613+24882A>G
XM_005261069.4:c.613+24882A>G XP_005261126.1:n.613+24882A>G
XM_011529766.1:c.623A>G XP_011528068.1:p.Gln208Arg
XM_011529766.2:c.623A>G XP_011528068.1:p.Gln208Arg
XM_011529767.1:c.584A>G XP_011528069.1:p.Gln195Arg
XM_011529767.2:c.584A>G XP_011528069.1:p.Gln195Arg
XM_011529768.1:c.574+24882A>G XP_011528070.1:n.574+24882A>G
XM_011529768.2:c.574+24882A>G XP_011528070.1:n.574+24882A>G
XM_011529770.1:c.623A>G XP_011528072.1:p.Gln208Arg
XM_011529770.2:c.623A>G XP_011528072.1:p.Gln208Arg
XM_017028487.1:c.470A>G XP_016883976.1:p.Gln157Arg
XR_937576.1:n.802A>G
XR_937576.2:n.849A>G