Canonical Allele Identifier: CA10014273
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409809
ClinVar RCV Id: RCV000461356 RCV003409633 RCV003470455
dbSNP Id: rs758682659
ExAC: 21:36171666 G / A
gnomAD v2: 21-36171666-G-A
gnomAD v3: 21-34799369-G-A
gnomAD v4: 21-34799369-G-A
MyVariant Identifiers: chr21:g.36171666G>A (hg19) chr21:g.34799369G>A (hg38)
ERepo: CA10014273/MONDO:0011071/008
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34799369G>A , CM000683.2:g.34799369G>A GRCh38
NC_000021.8:g.36171666G>A , CM000683.1:g.36171666G>A GRCh37
NC_000021.7:g.35093536G>A NCBI36
NG_011402.2:g.1190343C>T , LRG_482:g.1190343C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.899C>T MANE Select ENSP00000501943.1:p.Thr300Met
ENST00000300305.7:c.899C>T ENSP00000300305.3:p.Thr300Met
ENST00000344691.8:c.818C>T ENSP00000340690.4:p.Thr273Met
ENST00000399240.5:c.626C>T ENSP00000382184.1:p.Thr209Met
ENST00000437180.5:c.899C>T ENSP00000409227.1:p.Thr300Met
ENST00000482318.5:c.*489C>T ENSP00000477067.1:n.*489C>T
NM_001001890.2:c.818C>T NP_001001890.1:p.Thr273Met
NM_001754.4:c.899C>T , LRG_482t1:c.899C>T NP_001745.2:p.Thr300Met
XM_005261068.3:c.863C>T XP_005261125.1:p.Thr288Met
XM_005261069.3:c.707C>T XP_005261126.1:p.Thr236Met
XM_011529766.1:c.899C>T XP_011528068.1:p.Thr300Met
XM_011529767.1:c.860C>T XP_011528069.1:p.Thr287Met
XM_011529768.1:c.668C>T XP_011528070.1:p.Thr223Met
XR_937576.1:n.1078C>T
XM_005261069.4:c.707C>T XP_005261126.1:p.Thr236Met
XM_011529766.2:c.899C>T XP_011528068.1:p.Thr300Met
XM_011529767.2:c.860C>T XP_011528069.1:p.Thr287Met
XM_011529768.2:c.668C>T XP_011528070.1:p.Thr223Met
XM_017028487.1:c.746C>T XP_016883976.1:p.Thr249Met
XR_937576.2:n.1125C>T
NM_001001890.3:c.818C>T NP_001001890.1:p.Thr273Met
NM_001754.5:c.899C>T MANE Select NP_001745.2:p.Thr300Met
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