Canonical Allele Identifier: CA10583885
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 239046
ClinVar RCV Id: RCV000229612
dbSNP Id: rs878854467
MyVariant Identifiers: chr21:g.36259259T>A (hg19) chr21:g.34886962T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886962T>A , CM000683.2:g.34886962T>A GRCh38
NC_000021.8:g.36259259T>A , CM000683.1:g.36259259T>A GRCh37
NC_000021.7:g.35181129T>A NCBI36
NG_011402.2:g.1102750A>T , LRG_482:g.1102750A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.232A>T MANE Select ENSP00000501943.1:p.Met78Leu
ENST00000300305.7:c.232A>T ENSP00000300305.3:p.Met78Leu
ENST00000344691.8:c.151A>T ENSP00000340690.4:p.Met51Leu
ENST00000358356.9:c.151A>T ENSP00000351123.5:p.Met51Leu
ENST00000399237.6:c.196A>T ENSP00000382182.2:p.Met66Leu
ENST00000399240.5:c.151A>T ENSP00000382184.1:p.Met51Leu
ENST00000437180.5:c.232A>T ENSP00000409227.1:p.Met78Leu
ENST00000455571.5:c.193A>T ENSP00000388189.1:p.Met65Leu
ENST00000482318.5:c.59-6249A>T ENSP00000477067.1:n.59-6249A>T
NM_001001890.2:c.151A>T NP_001001890.1:p.Met51Leu
NM_001122607.1:c.151A>T NP_001116079.1:p.Met51Leu
NM_001754.4:c.232A>T , LRG_482t1:c.232A>T NP_001745.2:p.Met78Leu
XM_005261068.3:c.196A>T XP_005261125.1:p.Met66Leu
XM_005261069.3:c.232A>T XP_005261126.1:p.Met78Leu
XM_011529766.1:c.232A>T XP_011528068.1:p.Met78Leu
XM_011529767.1:c.193A>T XP_011528069.1:p.Met65Leu
XM_011529768.1:c.193A>T XP_011528070.1:p.Met65Leu
XM_011529770.1:c.232A>T XP_011528072.1:p.Met78Leu
XR_937576.1:n.411A>T
XM_005261069.4:c.232A>T XP_005261126.1:p.Met78Leu
XM_011529766.2:c.232A>T XP_011528068.1:p.Met78Leu
XM_011529767.2:c.193A>T XP_011528069.1:p.Met65Leu
XM_011529768.2:c.193A>T XP_011528070.1:p.Met65Leu
XM_011529770.2:c.232A>T XP_011528072.1:p.Met78Leu
XM_017028487.1:c.79A>T XP_016883976.1:p.Met27Leu
XR_937576.2:n.458A>T
NM_001001890.3:c.151A>T NP_001001890.1:p.Met51Leu
NM_001122607.2:c.151A>T NP_001116079.1:p.Met51Leu
NM_001754.5:c.232A>T MANE Select NP_001745.2:p.Met78Leu
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