Canonical Allele Identifier: CA410203881
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2146411816
MyVariant Identifiers: chr21:g.36259276C>T (hg19) chr21:g.34886979C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886979C>T , CM000683.2:g.34886979C>T GRCh38
NC_000021.8:g.36259276C>T , CM000683.1:g.36259276C>T GRCh37
NC_000021.7:g.35181146C>T NCBI36
NG_011402.2:g.1102733G>A , LRG_482:g.1102733G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.215G>A MANE Select ENSP00000501943.1:p.Arg72Lys
ENST00000300305.7:c.215G>A ENSP00000300305.3:p.Arg72Lys
ENST00000344691.8:c.134G>A ENSP00000340690.4:p.Arg45Lys
ENST00000358356.9:c.134G>A ENSP00000351123.5:p.Arg45Lys
ENST00000399237.6:c.179G>A ENSP00000382182.2:p.Arg60Lys
ENST00000399240.5:c.134G>A ENSP00000382184.1:p.Arg45Lys
ENST00000437180.5:c.215G>A ENSP00000409227.1:p.Arg72Lys
ENST00000455571.5:c.176G>A ENSP00000388189.1:p.Arg59Lys
ENST00000482318.5:c.59-6266G>A ENSP00000477067.1:n.59-6266G>A
NM_001001890.2:c.134G>A NP_001001890.1:p.Arg45Lys
NM_001122607.1:c.134G>A NP_001116079.1:p.Arg45Lys
NM_001754.4:c.215G>A , LRG_482t1:c.215G>A NP_001745.2:p.Arg72Lys
XM_005261068.3:c.179G>A XP_005261125.1:p.Arg60Lys
XM_005261069.3:c.215G>A XP_005261126.1:p.Arg72Lys
XM_011529766.1:c.215G>A XP_011528068.1:p.Arg72Lys
XM_011529767.1:c.176G>A XP_011528069.1:p.Arg59Lys
XM_011529768.1:c.176G>A XP_011528070.1:p.Arg59Lys
XM_011529770.1:c.215G>A XP_011528072.1:p.Arg72Lys
XR_937576.1:n.394G>A
XM_005261069.4:c.215G>A XP_005261126.1:p.Arg72Lys
XM_011529766.2:c.215G>A XP_011528068.1:p.Arg72Lys
XM_011529767.2:c.176G>A XP_011528069.1:p.Arg59Lys
XM_011529768.2:c.176G>A XP_011528070.1:p.Arg59Lys
XM_011529770.2:c.215G>A XP_011528072.1:p.Arg72Lys
XM_017028487.1:c.62G>A XP_016883976.1:p.Arg21Lys
XR_937576.2:n.441G>A
NM_001001890.3:c.134G>A NP_001001890.1:p.Arg45Lys
NM_001122607.2:c.134G>A NP_001116079.1:p.Arg45Lys
NM_001754.5:c.215G>A MANE Select NP_001745.2:p.Arg72Lys
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