Canonical Allele Identifier: CA10014287
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 464009
ClinVar RCV Id: RCV000539000 RCV002282215
dbSNP Id: rs201164283
ExAC: 21:36171741 G / A
gnomAD v2: 21-36171741-G-A
gnomAD v3: 21-34799444-G-A
gnomAD v4: 21-34799444-G-A
MyVariant Identifiers: chr21:g.36171741G>A (hg19) chr21:g.34799444G>A (hg38)
ERepo: CA10014287/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34799444G>A , CM000683.2:g.34799444G>A GRCh38
NC_000021.8:g.36171741G>A , CM000683.1:g.36171741G>A GRCh37
NC_000021.7:g.35093611G>A NCBI36
NG_011402.2:g.1190268C>T , LRG_482:g.1190268C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.824C>T MANE Select ENSP00000501943.1:p.Pro275Leu
ENST00000300305.7:c.824C>T ENSP00000300305.3:p.Pro275Leu
ENST00000344691.8:c.743C>T ENSP00000340690.4:p.Pro248Leu
ENST00000399240.5:c.551C>T ENSP00000382184.1:p.Pro184Leu
ENST00000437180.5:c.824C>T ENSP00000409227.1:p.Pro275Leu
ENST00000482318.5:c.*414C>T ENSP00000477067.1:n.*414C>T
NM_001001890.2:c.743C>T NP_001001890.1:p.Pro248Leu
NM_001754.4:c.824C>T , LRG_482t1:c.824C>T NP_001745.2:p.Pro275Leu
XM_005261068.3:c.788C>T XP_005261125.1:p.Pro263Leu
XM_005261069.3:c.632C>T XP_005261126.1:p.Pro211Leu
XM_011529766.1:c.824C>T XP_011528068.1:p.Pro275Leu
XM_011529767.1:c.785C>T XP_011528069.1:p.Pro262Leu
XM_011529768.1:c.593C>T XP_011528070.1:p.Pro198Leu
XR_937576.1:n.1003C>T
XM_005261069.4:c.632C>T XP_005261126.1:p.Pro211Leu
XM_011529766.2:c.824C>T XP_011528068.1:p.Pro275Leu
XM_011529767.2:c.785C>T XP_011528069.1:p.Pro262Leu
XM_011529768.2:c.593C>T XP_011528070.1:p.Pro198Leu
XM_017028487.1:c.671C>T XP_016883976.1:p.Pro224Leu
XR_937576.2:n.1050C>T
NM_001001890.3:c.743C>T NP_001001890.1:p.Pro248Leu
NM_001754.5:c.824C>T MANE Select NP_001745.2:p.Pro275Leu
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