Canonical Allele Identifier: CA410147422
Community Standard Title: NM_001754.5(RUNX1):c.1309A>G (p.Thr437Ala)
Gene: RUNX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792269T>C , CM000683.2:g.34792269T>C GRCh38
NC_000021.8:g.36164566T>C , CM000683.1:g.36164566T>C GRCh37
NC_000021.7:g.35086436T>C NCBI36
NG_011402.2:g.1197443A>G , LRG_482:g.1197443A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.1309A>G MANE Select NP_001745.2:p.Thr437Ala
ENST00000675419.1:c.1309A>G MANE Select ENSP00000501943.1:p.Thr437Ala
NM_001001890.2:c.1228A>G NP_001001890.1:p.Thr410Ala
NM_001001890.3:c.1228A>G NP_001001890.1:p.Thr410Ala
NM_001754.4:c.1309A>G , LRG_482t1:c.1309A>G NP_001745.2:p.Thr437Ala
ENST00000300305.7:c.1309A>G ENSP00000300305.3:p.Thr437Ala
ENST00000344691.8:c.1228A>G ENSP00000340690.4:p.Thr410Ala
ENST00000399240.5:c.1036A>G ENSP00000382184.1:p.Thr346Ala
ENST00000437180.5:c.1309A>G ENSP00000409227.1:p.Thr437Ala
ENST00000482318.5:c.*899A>G ENSP00000477067.1:n.*899A>G
XM_005261068.3:c.1273A>G XP_005261125.1:p.Thr425Ala
XM_005261069.3:c.1117A>G XP_005261126.1:p.Thr373Ala
XM_005261069.4:c.1117A>G XP_005261126.1:p.Thr373Ala
XM_011529766.1:c.1309A>G XP_011528068.1:p.Thr437Ala
XM_011529766.2:c.1309A>G XP_011528068.1:p.Thr437Ala
XM_011529767.1:c.1270A>G XP_011528069.1:p.Thr424Ala
XM_011529767.2:c.1270A>G XP_011528069.1:p.Thr424Ala
XM_011529768.1:c.1078A>G XP_011528070.1:p.Thr360Ala
XM_011529768.2:c.1078A>G XP_011528070.1:p.Thr360Ala
XM_017028487.1:c.1156A>G XP_016883976.1:p.Thr386Ala
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