Canonical Allele Identifier: CA410148157
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2011243
ClinVar RCV Id: RCV002829355
MyVariant Identifiers: chr21:g.36164783G>C (hg19) chr21:g.34792486G>C (hg38)
ERepo: CA410148157/MONDO:0011071/008
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792486G>C , CM000683.2:g.34792486G>C GRCh38
NC_000021.8:g.36164783G>C , CM000683.1:g.36164783G>C GRCh37
NC_000021.7:g.35086653G>C NCBI36
NG_011402.2:g.1197226C>G , LRG_482:g.1197226C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1092C>G MANE Select ENSP00000501943.1:p.Ile364Met
ENST00000300305.7:c.1092C>G ENSP00000300305.3:p.Ile364Met
ENST00000344691.8:c.1011C>G ENSP00000340690.4:p.Ile337Met
ENST00000399240.5:c.819C>G ENSP00000382184.1:p.Ile273Met
ENST00000437180.5:c.1092C>G ENSP00000409227.1:p.Ile364Met
ENST00000482318.5:c.*682C>G ENSP00000477067.1:n.*682C>G
NM_001001890.2:c.1011C>G NP_001001890.1:p.Ile337Met
NM_001754.4:c.1092C>G , LRG_482t1:c.1092C>G NP_001745.2:p.Ile364Met
XM_005261068.3:c.1056C>G XP_005261125.1:p.Ile352Met
XM_005261069.3:c.900C>G XP_005261126.1:p.Ile300Met
XM_011529766.1:c.1092C>G XP_011528068.1:p.Ile364Met
XM_011529767.1:c.1053C>G XP_011528069.1:p.Ile351Met
XM_011529768.1:c.861C>G XP_011528070.1:p.Ile287Met
XM_005261069.4:c.900C>G XP_005261126.1:p.Ile300Met
XM_011529766.2:c.1092C>G XP_011528068.1:p.Ile364Met
XM_011529767.2:c.1053C>G XP_011528069.1:p.Ile351Met
XM_011529768.2:c.861C>G XP_011528070.1:p.Ile287Met
XM_017028487.1:c.939C>G XP_016883976.1:p.Ile313Met
NM_001001890.3:c.1011C>G NP_001001890.1:p.Ile337Met
NM_001754.5:c.1092C>G MANE Select NP_001745.2:p.Ile364Met
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