Canonical Allele Identifier: CA320642941
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs200431130
gnomAD v4: 21-34887039-A-G
MyVariant Identifiers: chr21:g.36259336A>G (hg19) chr21:g.34887039A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34887039A>G , CM000683.2:g.34887039A>G GRCh38
NC_000021.8:g.36259336A>G , CM000683.1:g.36259336A>G GRCh37
NC_000021.7:g.35181206A>G NCBI36
NG_011402.2:g.1102673T>C , LRG_482:g.1102673T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.155T>C MANE Select ENSP00000501943.1:p.Met52Thr
ENST00000300305.7:c.155T>C ENSP00000300305.3:p.Met52Thr
ENST00000344691.8:c.74T>C ENSP00000340690.4:p.Met25Thr
ENST00000358356.9:c.74T>C ENSP00000351123.5:p.Met25Thr
ENST00000399237.6:c.119T>C ENSP00000382182.2:p.Met40Thr
ENST00000399240.5:c.74T>C ENSP00000382184.1:p.Met25Thr
ENST00000437180.5:c.155T>C ENSP00000409227.1:p.Met52Thr
ENST00000455571.5:c.116T>C ENSP00000388189.1:p.Met39Thr
ENST00000482318.5:c.59-6326T>C ENSP00000477067.1:n.59-6326T>C
NM_001001890.2:c.74T>C NP_001001890.1:p.Met25Thr
NM_001122607.1:c.74T>C NP_001116079.1:p.Met25Thr
NM_001754.4:c.155T>C , LRG_482t1:c.155T>C NP_001745.2:p.Met52Thr
XM_005261068.3:c.119T>C XP_005261125.1:p.Met40Thr
XM_005261069.3:c.155T>C XP_005261126.1:p.Met52Thr
XM_011529766.1:c.155T>C XP_011528068.1:p.Met52Thr
XM_011529767.1:c.116T>C XP_011528069.1:p.Met39Thr
XM_011529768.1:c.116T>C XP_011528070.1:p.Met39Thr
XM_011529770.1:c.155T>C XP_011528072.1:p.Met52Thr
XR_937576.1:n.334T>C
XM_005261069.4:c.155T>C XP_005261126.1:p.Met52Thr
XM_011529766.2:c.155T>C XP_011528068.1:p.Met52Thr
XM_011529767.2:c.116T>C XP_011528069.1:p.Met39Thr
XM_011529768.2:c.116T>C XP_011528070.1:p.Met39Thr
XM_011529770.2:c.155T>C XP_011528072.1:p.Met52Thr
XM_017028487.1:c.2T>C XP_016883976.1:p.Met1Thr
XR_937576.2:n.381T>C
NM_001001890.3:c.74T>C NP_001001890.1:p.Met25Thr
NM_001122607.2:c.74T>C NP_001116079.1:p.Met25Thr
NM_001754.5:c.155T>C MANE Select NP_001745.2:p.Met52Thr
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