Canonical Allele Identifier: CA320251280
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 532665
ClinVar RCV Id: RCV000639525 RCV003465400
dbSNP Id: rs916623598
gnomAD v2: 21-36164521-C-T
gnomAD v4: 21-34792224-C-T
MyVariant Identifiers: chr21:g.36164521C>T (hg19) chr21:g.34792224C>T (hg38)
ERepo: CA320251280/MONDO:0100083/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792224C>T , CM000683.2:g.34792224C>T GRCh38
NC_000021.8:g.36164521C>T , CM000683.1:g.36164521C>T GRCh37
NC_000021.7:g.35086391C>T NCBI36
NG_011402.2:g.1197488G>A , LRG_482:g.1197488G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1354G>A MANE Select ENSP00000501943.1:p.Val452Met
ENST00000300305.7:c.1354G>A ENSP00000300305.3:p.Val452Met
ENST00000344691.8:c.1273G>A ENSP00000340690.4:p.Val425Met
ENST00000399240.5:c.1081G>A ENSP00000382184.1:p.Val361Met
ENST00000437180.5:c.1354G>A ENSP00000409227.1:p.Val452Met
ENST00000482318.5:c.*944G>A ENSP00000477067.1:n.*944G>A
NM_001001890.2:c.1273G>A NP_001001890.1:p.Val425Met
NM_001754.4:c.1354G>A , LRG_482t1:c.1354G>A NP_001745.2:p.Val452Met
XM_005261068.3:c.1318G>A XP_005261125.1:p.Val440Met
XM_005261069.3:c.1162G>A XP_005261126.1:p.Val388Met
XM_011529766.1:c.1354G>A XP_011528068.1:p.Val452Met
XM_011529767.1:c.1315G>A XP_011528069.1:p.Val439Met
XM_011529768.1:c.1123G>A XP_011528070.1:p.Val375Met
XM_005261069.4:c.1162G>A XP_005261126.1:p.Val388Met
XM_011529766.2:c.1354G>A XP_011528068.1:p.Val452Met
XM_011529767.2:c.1315G>A XP_011528069.1:p.Val439Met
XM_011529768.2:c.1123G>A XP_011528070.1:p.Val375Met
XM_017028487.1:c.1201G>A XP_016883976.1:p.Val401Met
NM_001001890.3:c.1273G>A NP_001001890.1:p.Val425Met
NM_001754.5:c.1354G>A MANE Select NP_001745.2:p.Val452Met
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