Canonical Allele Identifier: CA410207956

Gene: RUNX1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34859485C>G , CM000683.2:g.34859485C>G	GRCh38
NC_000021.8:g.36231782C>G , CM000683.1:g.36231782C>G	GRCh37
NC_000021.7:g.35153652C>G	NCBI36
NG_011402.2:g.1130227G>C , LRG_482:g.1130227G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001754.5:c.602G>C MANE Select	NP_001745.2:p.Arg201Pro
ENST00000675419.1:c.602G>C MANE Select	ENSP00000501943.1:p.Arg201Pro
NM_001001890.2:c.521G>C	NP_001001890.1:p.Arg174Pro
NM_001001890.3:c.521G>C	NP_001001890.1:p.Arg174Pro
NM_001122607.1:c.521G>C	NP_001116079.1:p.Arg174Pro
NM_001122607.2:c.521G>C	NP_001116079.1:p.Arg174Pro
NM_001754.4:c.602G>C , LRG_482t1:c.602G>C	NP_001745.2:p.Arg201Pro
ENST00000300305.7:c.602G>C	ENSP00000300305.3:p.Arg201Pro
ENST00000344691.8:c.521G>C	ENSP00000340690.4:p.Arg174Pro
ENST00000358356.9:c.521G>C	ENSP00000351123.5:p.Arg174Pro
ENST00000399237.6:c.566G>C	ENSP00000382182.2:p.Arg189Pro
ENST00000399240.5:c.521G>C	ENSP00000382184.1:p.Arg174Pro
ENST00000437180.5:c.602G>C	ENSP00000409227.1:p.Arg201Pro
ENST00000467577.1:n.94G>C
ENST00000482318.5:c.*192G>C	ENSP00000477067.1:n.*192G>C
XM_005261068.3:c.566G>C	XP_005261125.1:p.Arg189Pro
XM_005261069.3:c.602G>C	XP_005261126.1:p.Arg201Pro
XM_005261069.4:c.602G>C	XP_005261126.1:p.Arg201Pro
XM_011529766.1:c.602G>C	XP_011528068.1:p.Arg201Pro
XM_011529766.2:c.602G>C	XP_011528068.1:p.Arg201Pro
XM_011529767.1:c.563G>C	XP_011528069.1:p.Arg188Pro
XM_011529767.2:c.563G>C	XP_011528069.1:p.Arg188Pro
XM_011529768.1:c.563G>C	XP_011528070.1:p.Arg188Pro
XM_011529768.2:c.563G>C	XP_011528070.1:p.Arg188Pro
XM_011529770.1:c.602G>C	XP_011528072.1:p.Arg201Pro
XM_011529770.2:c.602G>C	XP_011528072.1:p.Arg201Pro
XM_017028487.1:c.449G>C	XP_016883976.1:p.Arg150Pro
XR_937576.1:n.781G>C
XR_937576.2:n.828G>C