Canonical Allele Identifier: CA410202768
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2146363780
COSMIC: COSM3841860 COSM3841861
MyVariant Identifiers: chr21:g.36252998C>G (hg19) chr21:g.34880701C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880701C>G , CM000683.2:g.34880701C>G GRCh38
NC_000021.8:g.36252998C>G , CM000683.1:g.36252998C>G GRCh37
NC_000021.7:g.35174868C>G NCBI36
NG_011402.2:g.1109011G>C , LRG_482:g.1109011G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.364G>C MANE Select ENSP00000501943.1:p.Gly122Arg
ENST00000300305.7:c.364G>C ENSP00000300305.3:p.Gly122Arg
ENST00000344691.8:c.283G>C ENSP00000340690.4:p.Gly95Arg
ENST00000358356.9:c.283G>C ENSP00000351123.5:p.Gly95Arg
ENST00000399237.6:c.328G>C ENSP00000382182.2:p.Gly110Arg
ENST00000399240.5:c.283G>C ENSP00000382184.1:p.Gly95Arg
ENST00000437180.5:c.364G>C ENSP00000409227.1:p.Gly122Arg
ENST00000455571.5:c.325G>C ENSP00000388189.1:p.Gly109Arg
ENST00000482318.5:c.71G>C ENSP00000477067.1:p.Arg24Thr
NM_001001890.2:c.283G>C NP_001001890.1:p.Gly95Arg
NM_001122607.1:c.283G>C NP_001116079.1:p.Gly95Arg
NM_001754.4:c.364G>C , LRG_482t1:c.364G>C NP_001745.2:p.Gly122Arg
XM_005261068.3:c.328G>C XP_005261125.1:p.Gly110Arg
XM_005261069.3:c.364G>C XP_005261126.1:p.Gly122Arg
XM_011529766.1:c.364G>C XP_011528068.1:p.Gly122Arg
XM_011529767.1:c.325G>C XP_011528069.1:p.Gly109Arg
XM_011529768.1:c.325G>C XP_011528070.1:p.Gly109Arg
XM_011529770.1:c.364G>C XP_011528072.1:p.Gly122Arg
XR_937576.1:n.543G>C
XM_005261069.4:c.364G>C XP_005261126.1:p.Gly122Arg
XM_011529766.2:c.364G>C XP_011528068.1:p.Gly122Arg
XM_011529767.2:c.325G>C XP_011528069.1:p.Gly109Arg
XM_011529768.2:c.325G>C XP_011528070.1:p.Gly109Arg
XM_011529770.2:c.364G>C XP_011528072.1:p.Gly122Arg
XM_017028487.1:c.211G>C XP_016883976.1:p.Gly71Arg
XR_937576.2:n.590G>C
NM_001001890.3:c.283G>C NP_001001890.1:p.Gly95Arg
NM_001122607.2:c.283G>C NP_001116079.1:p.Gly95Arg
NM_001754.5:c.364G>C MANE Select NP_001745.2:p.Gly122Arg
Search 100 bp 5'
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