Canonical Allele Identifier: CA410146714
Community Standard Title: NM_001754.5(RUNX1):c.1412G>A (p.Arg471His)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792166C>T , CM000683.2:g.34792166C>T GRCh38
NC_000021.8:g.36164463C>T , CM000683.1:g.36164463C>T GRCh37
NC_000021.7:g.35086333C>T NCBI36
NG_011402.2:g.1197546G>A , LRG_482:g.1197546G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.1412G>A MANE Select NP_001745.2:p.Arg471His
ENST00000675419.1:c.1412G>A MANE Select ENSP00000501943.1:p.Arg471His
NM_001001890.2:c.1331G>A NP_001001890.1:p.Arg444His
NM_001001890.3:c.1331G>A NP_001001890.1:p.Arg444His
NM_001754.4:c.1412G>A , LRG_482t1:c.1412G>A NP_001745.2:p.Arg471His
ENST00000300305.7:c.1412G>A ENSP00000300305.3:p.Arg471His
ENST00000344691.8:c.1331G>A ENSP00000340690.4:p.Arg444His
ENST00000399240.5:c.1139G>A ENSP00000382184.1:p.Arg380His
ENST00000437180.5:c.1412G>A ENSP00000409227.1:p.Arg471His
ENST00000482318.5:c.*1002G>A ENSP00000477067.1:n.*1002G>A
XM_005261068.3:c.1376G>A XP_005261125.1:p.Arg459His
XM_005261069.3:c.1220G>A XP_005261126.1:p.Arg407His
XM_005261069.4:c.1220G>A XP_005261126.1:p.Arg407His
XM_011529766.1:c.1412G>A XP_011528068.1:p.Arg471His
XM_011529766.2:c.1412G>A XP_011528068.1:p.Arg471His
XM_011529767.1:c.1373G>A XP_011528069.1:p.Arg458His
XM_011529767.2:c.1373G>A XP_011528069.1:p.Arg458His
XM_011529768.1:c.1181G>A XP_011528070.1:p.Arg394His
XM_011529768.2:c.1181G>A XP_011528070.1:p.Arg394His
XM_017028487.1:c.1259G>A XP_016883976.1:p.Arg420His