Canonical Allele Identifier: CA10014261
Community Standard Title: NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala)
Gene: RUNX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34799316A>C , CM000683.2:g.34799316A>C GRCh38
NC_000021.8:g.36171613A>C , CM000683.1:g.36171613A>C GRCh37
NC_000021.7:g.35093483A>C NCBI36
NG_011402.2:g.1190396T>G , LRG_482:g.1190396T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.952T>G MANE Select NP_001745.2:p.Ser318Ala
ENST00000675419.1:c.952T>G MANE Select ENSP00000501943.1:p.Ser318Ala
NM_001001890.2:c.871T>G NP_001001890.1:p.Ser291Ala
NM_001001890.3:c.871T>G NP_001001890.1:p.Ser291Ala
NM_001754.4:c.952T>G , LRG_482t1:c.952T>G NP_001745.2:p.Ser318Ala
ENST00000300305.7:c.952T>G ENSP00000300305.3:p.Ser318Ala
ENST00000344691.8:c.871T>G ENSP00000340690.4:p.Ser291Ala
ENST00000399240.5:c.679T>G ENSP00000382184.1:p.Ser227Ala
ENST00000437180.5:c.952T>G ENSP00000409227.1:p.Ser318Ala
ENST00000482318.5:c.*542T>G ENSP00000477067.1:n.*542T>G
XM_005261068.3:c.916T>G XP_005261125.1:p.Ser306Ala
XM_005261069.3:c.760T>G XP_005261126.1:p.Ser254Ala
XM_005261069.4:c.760T>G XP_005261126.1:p.Ser254Ala
XM_011529766.1:c.952T>G XP_011528068.1:p.Ser318Ala
XM_011529766.2:c.952T>G XP_011528068.1:p.Ser318Ala
XM_011529767.1:c.913T>G XP_011528069.1:p.Ser305Ala
XM_011529767.2:c.913T>G XP_011528069.1:p.Ser305Ala
XM_011529768.1:c.721T>G XP_011528070.1:p.Ser241Ala
XM_011529768.2:c.721T>G XP_011528070.1:p.Ser241Ala
XM_017028487.1:c.799T>G XP_016883976.1:p.Ser267Ala
XR_937576.1:n.1131T>G
XR_937576.2:n.1178T>G
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