Canonical Allele Identifier: CA410148728
Community Standard Title: NM_001754.5(RUNX1):c.993C>G (p.Ser331Arg)
Gene: RUNX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792585G>C , CM000683.2:g.34792585G>C GRCh38
NC_000021.8:g.36164882G>C , CM000683.1:g.36164882G>C GRCh37
NC_000021.7:g.35086752G>C NCBI36
NG_011402.2:g.1197127C>G , LRG_482:g.1197127C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.993C>G MANE Select NP_001745.2:p.Ser331Arg
ENST00000675419.1:c.993C>G MANE Select ENSP00000501943.1:p.Ser331Arg
NM_001001890.2:c.912C>G NP_001001890.1:p.Ser304Arg
NM_001001890.3:c.912C>G NP_001001890.1:p.Ser304Arg
NM_001754.4:c.993C>G , LRG_482t1:c.993C>G NP_001745.2:p.Ser331Arg
ENST00000300305.7:c.993C>G ENSP00000300305.3:p.Ser331Arg
ENST00000344691.8:c.912C>G ENSP00000340690.4:p.Ser304Arg
ENST00000399240.5:c.720C>G ENSP00000382184.1:p.Ser240Arg
ENST00000437180.5:c.993C>G ENSP00000409227.1:p.Ser331Arg
ENST00000482318.5:c.*583C>G ENSP00000477067.1:n.*583C>G
XM_005261068.3:c.957C>G XP_005261125.1:p.Ser319Arg
XM_005261069.3:c.801C>G XP_005261126.1:p.Ser267Arg
XM_005261069.4:c.801C>G XP_005261126.1:p.Ser267Arg
XM_011529766.1:c.993C>G XP_011528068.1:p.Ser331Arg
XM_011529766.2:c.993C>G XP_011528068.1:p.Ser331Arg
XM_011529767.1:c.954C>G XP_011528069.1:p.Ser318Arg
XM_011529767.2:c.954C>G XP_011528069.1:p.Ser318Arg
XM_011529768.1:c.762C>G XP_011528070.1:p.Ser254Arg
XM_011529768.2:c.762C>G XP_011528070.1:p.Ser254Arg
XM_017028487.1:c.840C>G XP_016883976.1:p.Ser280Arg
XR_937576.1:n.4597C>G
XR_937576.2:n.4644C>G
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