Canonical Allele Identifier: CA410206792
Community Standard Title: NM_001754.5(RUNX1):c.737C>G (p.Thr246Arg)
Gene: RUNX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34834478G>C , CM000683.2:g.34834478G>C GRCh38
NC_000021.8:g.36206775G>C , CM000683.1:g.36206775G>C GRCh37
NC_000021.7:g.35128645G>C NCBI36
NG_011402.2:g.1155234C>G , LRG_482:g.1155234C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.737C>G MANE Select NP_001745.2:p.Thr246Arg
ENST00000675419.1:c.737C>G MANE Select ENSP00000501943.1:p.Thr246Arg
NM_001001890.2:c.656C>G NP_001001890.1:p.Thr219Arg
NM_001001890.3:c.656C>G NP_001001890.1:p.Thr219Arg
NM_001122607.1:c.656C>G NP_001116079.1:p.Thr219Arg
NM_001122607.2:c.656C>G NP_001116079.1:p.Thr219Arg
NM_001754.4:c.737C>G , LRG_482t1:c.737C>G NP_001745.2:p.Thr246Arg
ENST00000300305.7:c.737C>G ENSP00000300305.3:p.Thr246Arg
ENST00000344691.8:c.656C>G ENSP00000340690.4:p.Thr219Arg
ENST00000358356.9:c.656C>G ENSP00000351123.5:p.Thr219Arg
ENST00000399237.6:c.701C>G ENSP00000382182.2:p.Thr234Arg
ENST00000399240.5:c.532+24996C>G ENSP00000382184.1:n.532+24996C>G
ENST00000437180.5:c.737C>G ENSP00000409227.1:p.Thr246Arg
ENST00000469087.1:n.273C>G
ENST00000482318.5:c.*327C>G ENSP00000477067.1:n.*327C>G
XM_005261068.3:c.701C>G XP_005261125.1:p.Thr234Arg
XM_005261069.3:c.613+24996C>G XP_005261126.1:n.613+24996C>G
XM_005261069.4:c.613+24996C>G XP_005261126.1:n.613+24996C>G
XM_011529766.1:c.737C>G XP_011528068.1:p.Thr246Arg
XM_011529766.2:c.737C>G XP_011528068.1:p.Thr246Arg
XM_011529767.1:c.698C>G XP_011528069.1:p.Thr233Arg
XM_011529767.2:c.698C>G XP_011528069.1:p.Thr233Arg
XM_011529768.1:c.574+24996C>G XP_011528070.1:n.574+24996C>G
XM_011529768.2:c.574+24996C>G XP_011528070.1:n.574+24996C>G
XM_011529770.1:c.737C>G XP_011528072.1:p.Thr246Arg
XM_011529770.2:c.737C>G XP_011528072.1:p.Thr246Arg
XM_017028487.1:c.584C>G XP_016883976.1:p.Thr195Arg
XR_937576.1:n.916C>G
XR_937576.2:n.963C>G
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