Canonical Allele Identifier: CA410147807
Community Standard Title: NM_001754.5(RUNX1):c.1195A>C (p.Ser399Arg)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792383T>G , CM000683.2:g.34792383T>G GRCh38
NC_000021.8:g.36164680T>G , CM000683.1:g.36164680T>G GRCh37
NC_000021.7:g.35086550T>G NCBI36
NG_011402.2:g.1197329A>C , LRG_482:g.1197329A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.1195A>C MANE Select NP_001745.2:p.Ser399Arg
ENST00000675419.1:c.1195A>C MANE Select ENSP00000501943.1:p.Ser399Arg
NM_001001890.2:c.1114A>C NP_001001890.1:p.Ser372Arg
NM_001001890.3:c.1114A>C NP_001001890.1:p.Ser372Arg
NM_001754.4:c.1195A>C , LRG_482t1:c.1195A>C NP_001745.2:p.Ser399Arg
ENST00000300305.7:c.1195A>C ENSP00000300305.3:p.Ser399Arg
ENST00000344691.8:c.1114A>C ENSP00000340690.4:p.Ser372Arg
ENST00000399240.5:c.922A>C ENSP00000382184.1:p.Ser308Arg
ENST00000437180.5:c.1195A>C ENSP00000409227.1:p.Ser399Arg
ENST00000482318.5:c.*785A>C ENSP00000477067.1:n.*785A>C
XM_005261068.3:c.1159A>C XP_005261125.1:p.Ser387Arg
XM_005261069.3:c.1003A>C XP_005261126.1:p.Ser335Arg
XM_005261069.4:c.1003A>C XP_005261126.1:p.Ser335Arg
XM_011529766.1:c.1195A>C XP_011528068.1:p.Ser399Arg
XM_011529766.2:c.1195A>C XP_011528068.1:p.Ser399Arg
XM_011529767.1:c.1156A>C XP_011528069.1:p.Ser386Arg
XM_011529767.2:c.1156A>C XP_011528069.1:p.Ser386Arg
XM_011529768.1:c.964A>C XP_011528070.1:p.Ser322Arg
XM_011529768.2:c.964A>C XP_011528070.1:p.Ser322Arg
XM_017028487.1:c.1042A>C XP_016883976.1:p.Ser348Arg