Canonical Allele Identifier: CA410202547
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2146361175
MyVariant Identifiers: chr21:g.36252892C>T (hg19) chr21:g.34880595C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880595C>T , CM000683.2:g.34880595C>T GRCh38
NC_000021.8:g.36252892C>T , CM000683.1:g.36252892C>T GRCh37
NC_000021.7:g.35174762C>T NCBI36
NG_011402.2:g.1109117G>A , LRG_482:g.1109117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.470G>A MANE Select ENSP00000501943.1:p.Arg157Lys
ENST00000300305.7:c.470G>A ENSP00000300305.3:p.Arg157Lys
ENST00000344691.8:c.389G>A ENSP00000340690.4:p.Arg130Lys
ENST00000358356.9:c.389G>A ENSP00000351123.5:p.Arg130Lys
ENST00000399237.6:c.434G>A ENSP00000382182.2:p.Arg145Lys
ENST00000399240.5:c.389G>A ENSP00000382184.1:p.Arg130Lys
ENST00000437180.5:c.470G>A ENSP00000409227.1:p.Arg157Lys
ENST00000482318.5:c.*60G>A ENSP00000477067.1:n.*60G>A
NM_001001890.2:c.389G>A NP_001001890.1:p.Arg130Lys
NM_001122607.1:c.389G>A NP_001116079.1:p.Arg130Lys
NM_001754.4:c.470G>A , LRG_482t1:c.470G>A NP_001745.2:p.Arg157Lys
XM_005261068.3:c.434G>A XP_005261125.1:p.Arg145Lys
XM_005261069.3:c.470G>A XP_005261126.1:p.Arg157Lys
XM_011529766.1:c.470G>A XP_011528068.1:p.Arg157Lys
XM_011529767.1:c.431G>A XP_011528069.1:p.Arg144Lys
XM_011529768.1:c.431G>A XP_011528070.1:p.Arg144Lys
XM_011529770.1:c.470G>A XP_011528072.1:p.Arg157Lys
XR_937576.1:n.649G>A
XM_005261069.4:c.470G>A XP_005261126.1:p.Arg157Lys
XM_011529766.2:c.470G>A XP_011528068.1:p.Arg157Lys
XM_011529767.2:c.431G>A XP_011528069.1:p.Arg144Lys
XM_011529768.2:c.431G>A XP_011528070.1:p.Arg144Lys
XM_011529770.2:c.470G>A XP_011528072.1:p.Arg157Lys
XM_017028487.1:c.317G>A XP_016883976.1:p.Arg106Lys
XR_937576.2:n.696G>A
NM_001001890.3:c.389G>A NP_001001890.1:p.Arg130Lys
NM_001122607.2:c.389G>A NP_001116079.1:p.Arg130Lys
NM_001754.5:c.470G>A MANE Select NP_001745.2:p.Arg157Lys
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