Canonical Allele Identifier: CA410207049
Community Standard Title: NM_001754.5(RUNX1):c.649G>C (p.Gly217Arg)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34834566C>G , CM000683.2:g.34834566C>G GRCh38
NC_000021.8:g.36206863C>G , CM000683.1:g.36206863C>G GRCh37
NC_000021.7:g.35128733C>G NCBI36
NG_011402.2:g.1155146G>C , LRG_482:g.1155146G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.649G>C MANE Select NP_001745.2:p.Gly217Arg
ENST00000675419.1:c.649G>C MANE Select ENSP00000501943.1:p.Gly217Arg
NM_001001890.2:c.568G>C NP_001001890.1:p.Gly190Arg
NM_001001890.3:c.568G>C NP_001001890.1:p.Gly190Arg
NM_001122607.1:c.568G>C NP_001116079.1:p.Gly190Arg
NM_001122607.2:c.568G>C NP_001116079.1:p.Gly190Arg
NM_001754.4:c.649G>C , LRG_482t1:c.649G>C NP_001745.2:p.Gly217Arg
ENST00000300305.7:c.649G>C ENSP00000300305.3:p.Gly217Arg
ENST00000344691.8:c.568G>C ENSP00000340690.4:p.Gly190Arg
ENST00000358356.9:c.568G>C ENSP00000351123.5:p.Gly190Arg
ENST00000399237.6:c.613G>C ENSP00000382182.2:p.Gly205Arg
ENST00000399240.5:c.532+24908G>C ENSP00000382184.1:n.532+24908G>C
ENST00000437180.5:c.649G>C ENSP00000409227.1:p.Gly217Arg
ENST00000469087.1:n.185G>C
ENST00000482318.5:c.*239G>C ENSP00000477067.1:n.*239G>C
XM_005261068.3:c.613G>C XP_005261125.1:p.Gly205Arg
XM_005261069.3:c.613+24908G>C XP_005261126.1:n.613+24908G>C
XM_005261069.4:c.613+24908G>C XP_005261126.1:n.613+24908G>C
XM_011529766.1:c.649G>C XP_011528068.1:p.Gly217Arg
XM_011529766.2:c.649G>C XP_011528068.1:p.Gly217Arg
XM_011529767.1:c.610G>C XP_011528069.1:p.Gly204Arg
XM_011529767.2:c.610G>C XP_011528069.1:p.Gly204Arg
XM_011529768.1:c.574+24908G>C XP_011528070.1:n.574+24908G>C
XM_011529768.2:c.574+24908G>C XP_011528070.1:n.574+24908G>C
XM_011529770.1:c.649G>C XP_011528072.1:p.Gly217Arg
XM_011529770.2:c.649G>C XP_011528072.1:p.Gly217Arg
XM_017028487.1:c.496G>C XP_016883976.1:p.Gly166Arg
XR_937576.1:n.828G>C
XR_937576.2:n.875G>C