Canonical Allele Identifier: CA16616511
Community Standard Title: NM_001754.5(RUNX1):c.1252A>G (p.Met418Val)
Gene: RUNX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792326T>C , CM000683.2:g.34792326T>C GRCh38
NC_000021.8:g.36164623T>C , CM000683.1:g.36164623T>C GRCh37
NC_000021.7:g.35086493T>C NCBI36
NG_011402.2:g.1197386A>G , LRG_482:g.1197386A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.1252A>G MANE Select NP_001745.2:p.Met418Val
ENST00000675419.1:c.1252A>G MANE Select ENSP00000501943.1:p.Met418Val
NM_001001890.2:c.1171A>G NP_001001890.1:p.Met391Val
NM_001001890.3:c.1171A>G NP_001001890.1:p.Met391Val
NM_001754.4:c.1252A>G , LRG_482t1:c.1252A>G NP_001745.2:p.Met418Val
ENST00000300305.7:c.1252A>G ENSP00000300305.3:p.Met418Val
ENST00000344691.8:c.1171A>G ENSP00000340690.4:p.Met391Val
ENST00000399240.5:c.979A>G ENSP00000382184.1:p.Met327Val
ENST00000437180.5:c.1252A>G ENSP00000409227.1:p.Met418Val
ENST00000482318.5:c.*842A>G ENSP00000477067.1:n.*842A>G
XM_005261068.3:c.1216A>G XP_005261125.1:p.Met406Val
XM_005261069.3:c.1060A>G XP_005261126.1:p.Met354Val
XM_005261069.4:c.1060A>G XP_005261126.1:p.Met354Val
XM_011529766.1:c.1252A>G XP_011528068.1:p.Met418Val
XM_011529766.2:c.1252A>G XP_011528068.1:p.Met418Val
XM_011529767.1:c.1213A>G XP_011528069.1:p.Met405Val
XM_011529767.2:c.1213A>G XP_011528069.1:p.Met405Val
XM_011529768.1:c.1021A>G XP_011528070.1:p.Met341Val
XM_011529768.2:c.1021A>G XP_011528070.1:p.Met341Val
XM_017028487.1:c.1099A>G XP_016883976.1:p.Met367Val
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