Canonical Allele Identifier: CA320251631
Community Standard Title: NM_001754.5(RUNX1):c.999G>T (p.Pro333=)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792579C>A , CM000683.2:g.34792579C>A GRCh38
NC_000021.8:g.36164876C>A , CM000683.1:g.36164876C>A GRCh37
NC_000021.7:g.35086746C>A NCBI36
NG_011402.2:g.1197133G>T , LRG_482:g.1197133G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.999G>T MANE Select NP_001745.2:p.Pro333=
ENST00000675419.1:c.999G>T MANE Select ENSP00000501943.1:p.Pro333=
NM_001001890.2:c.918G>T NP_001001890.1:p.Pro306=
NM_001001890.3:c.918G>T NP_001001890.1:p.Pro306=
NM_001754.4:c.999G>T , LRG_482t1:c.999G>T NP_001745.2:p.Pro333=
ENST00000300305.7:c.999G>T ENSP00000300305.3:p.Pro333=
ENST00000344691.8:c.918G>T ENSP00000340690.4:p.Pro306=
ENST00000399240.5:c.726G>T ENSP00000382184.1:p.Pro242=
ENST00000437180.5:c.999G>T ENSP00000409227.1:p.Pro333=
ENST00000482318.5:c.*589G>T ENSP00000477067.1:n.*589G>T
XM_005261068.3:c.963G>T XP_005261125.1:p.Pro321=
XM_005261069.3:c.807G>T XP_005261126.1:p.Pro269=
XM_005261069.4:c.807G>T XP_005261126.1:p.Pro269=
XM_011529766.1:c.999G>T XP_011528068.1:p.Pro333=
XM_011529766.2:c.999G>T XP_011528068.1:p.Pro333=
XM_011529767.1:c.960G>T XP_011528069.1:p.Pro320=
XM_011529767.2:c.960G>T XP_011528069.1:p.Pro320=
XM_011529768.1:c.768G>T XP_011528070.1:p.Pro256=
XM_011529768.2:c.768G>T XP_011528070.1:p.Pro256=
XM_017028487.1:c.846G>T XP_016883976.1:p.Pro282=
XR_937576.1:n.4603G>T
XR_937576.2:n.4650G>T