Canonical Allele Identifier: CA410206725
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 464007
ClinVar RCV Id: RCV000550271
dbSNP Id: rs1555889935
MyVariant Identifiers: chr21:g.36206742G>A (hg19) chr21:g.34834445G>A (hg38)
ERepo: CA410206725/MONDO:0011071/008
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34834445G>A , CM000683.2:g.34834445G>A GRCh38
NC_000021.8:g.36206742G>A , CM000683.1:g.36206742G>A GRCh37
NC_000021.7:g.35128612G>A NCBI36
NG_011402.2:g.1155267C>T , LRG_482:g.1155267C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.770C>T MANE Select ENSP00000501943.1:p.Thr257Ile
ENST00000300305.7:c.770C>T ENSP00000300305.3:p.Thr257Ile
ENST00000344691.8:c.689C>T ENSP00000340690.4:p.Thr230Ile
ENST00000358356.9:c.689C>T ENSP00000351123.5:p.Thr230Ile
ENST00000399237.6:c.734C>T ENSP00000382182.2:p.Thr245Ile
ENST00000399240.5:c.532+25029C>T ENSP00000382184.1:n.532+25029C>T
ENST00000437180.5:c.770C>T ENSP00000409227.1:p.Thr257Ile
ENST00000469087.1:n.306C>T
ENST00000482318.5:c.*360C>T ENSP00000477067.1:n.*360C>T
NM_001001890.2:c.689C>T NP_001001890.1:p.Thr230Ile
NM_001122607.1:c.689C>T NP_001116079.1:p.Thr230Ile
NM_001754.4:c.770C>T , LRG_482t1:c.770C>T NP_001745.2:p.Thr257Ile
XM_005261068.3:c.734C>T XP_005261125.1:p.Thr245Ile
XM_005261069.3:c.613+25029C>T XP_005261126.1:n.613+25029C>T
XM_011529766.1:c.770C>T XP_011528068.1:p.Thr257Ile
XM_011529767.1:c.731C>T XP_011528069.1:p.Thr244Ile
XM_011529768.1:c.574+25029C>T XP_011528070.1:n.574+25029C>T
XM_011529770.1:c.770C>T XP_011528072.1:p.Thr257Ile
XR_937576.1:n.949C>T
XM_005261069.4:c.613+25029C>T XP_005261126.1:n.613+25029C>T
XM_011529766.2:c.770C>T XP_011528068.1:p.Thr257Ile
XM_011529767.2:c.731C>T XP_011528069.1:p.Thr244Ile
XM_011529768.2:c.574+25029C>T XP_011528070.1:n.574+25029C>T
XM_011529770.2:c.770C>T XP_011528072.1:p.Thr257Ile
XM_017028487.1:c.617C>T XP_016883976.1:p.Thr206Ile
XR_937576.2:n.996C>T
NM_001001890.3:c.689C>T NP_001001890.1:p.Thr230Ile
NM_001122607.2:c.689C>T NP_001116079.1:p.Thr230Ile
NM_001754.5:c.770C>T MANE Select NP_001745.2:p.Thr257Ile
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