Canonical Allele Identifier: CA10014265
Community Standard Title: NM_001754.5(RUNX1):c.938T>G (p.Leu313Arg)
Gene: RUNX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34799330A>C , CM000683.2:g.34799330A>C GRCh38
NC_000021.8:g.36171627A>C , CM000683.1:g.36171627A>C GRCh37
NC_000021.7:g.35093497A>C NCBI36
NG_011402.2:g.1190382T>G , LRG_482:g.1190382T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.938T>G MANE Select NP_001745.2:p.Leu313Arg
ENST00000675419.1:c.938T>G MANE Select ENSP00000501943.1:p.Leu313Arg
NM_001001890.2:c.857T>G NP_001001890.1:p.Leu286Arg
NM_001001890.3:c.857T>G NP_001001890.1:p.Leu286Arg
NM_001754.4:c.938T>G , LRG_482t1:c.938T>G NP_001745.2:p.Leu313Arg
ENST00000300305.7:c.938T>G ENSP00000300305.3:p.Leu313Arg
ENST00000344691.8:c.857T>G ENSP00000340690.4:p.Leu286Arg
ENST00000399240.5:c.665T>G ENSP00000382184.1:p.Leu222Arg
ENST00000437180.5:c.938T>G ENSP00000409227.1:p.Leu313Arg
ENST00000482318.5:c.*528T>G ENSP00000477067.1:n.*528T>G
XM_005261068.3:c.902T>G XP_005261125.1:p.Leu301Arg
XM_005261069.3:c.746T>G XP_005261126.1:p.Leu249Arg
XM_005261069.4:c.746T>G XP_005261126.1:p.Leu249Arg
XM_011529766.1:c.938T>G XP_011528068.1:p.Leu313Arg
XM_011529766.2:c.938T>G XP_011528068.1:p.Leu313Arg
XM_011529767.1:c.899T>G XP_011528069.1:p.Leu300Arg
XM_011529767.2:c.899T>G XP_011528069.1:p.Leu300Arg
XM_011529768.1:c.707T>G XP_011528070.1:p.Leu236Arg
XM_011529768.2:c.707T>G XP_011528070.1:p.Leu236Arg
XM_017028487.1:c.785T>G XP_016883976.1:p.Leu262Arg
XR_937576.1:n.1117T>G
XR_937576.2:n.1164T>G
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