Canonical Allele Identifier: CA410202499
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2146360609
MyVariant Identifiers: chr21:g.36252871A>T (hg19) chr21:g.34880574A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880574A>T , CM000683.2:g.34880574A>T GRCh38
NC_000021.8:g.36252871A>T , CM000683.1:g.36252871A>T GRCh37
NC_000021.7:g.35174741A>T NCBI36
NG_011402.2:g.1109138T>A , LRG_482:g.1109138T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.491T>A MANE Select ENSP00000501943.1:p.Val164Asp
ENST00000300305.7:c.491T>A ENSP00000300305.3:p.Val164Asp
ENST00000344691.8:c.410T>A ENSP00000340690.4:p.Val137Asp
ENST00000358356.9:c.410T>A ENSP00000351123.5:p.Val137Asp
ENST00000399237.6:c.455T>A ENSP00000382182.2:p.Val152Asp
ENST00000399240.5:c.410T>A ENSP00000382184.1:p.Val137Asp
ENST00000437180.5:c.491T>A ENSP00000409227.1:p.Val164Asp
ENST00000482318.5:c.*81T>A ENSP00000477067.1:n.*81T>A
NM_001001890.2:c.410T>A NP_001001890.1:p.Val137Asp
NM_001122607.1:c.410T>A NP_001116079.1:p.Val137Asp
NM_001754.4:c.491T>A , LRG_482t1:c.491T>A NP_001745.2:p.Val164Asp
XM_005261068.3:c.455T>A XP_005261125.1:p.Val152Asp
XM_005261069.3:c.491T>A XP_005261126.1:p.Val164Asp
XM_011529766.1:c.491T>A XP_011528068.1:p.Val164Asp
XM_011529767.1:c.452T>A XP_011528069.1:p.Val151Asp
XM_011529768.1:c.452T>A XP_011528070.1:p.Val151Asp
XM_011529770.1:c.491T>A XP_011528072.1:p.Val164Asp
XR_937576.1:n.670T>A
XM_005261069.4:c.491T>A XP_005261126.1:p.Val164Asp
XM_011529766.2:c.491T>A XP_011528068.1:p.Val164Asp
XM_011529767.2:c.452T>A XP_011528069.1:p.Val151Asp
XM_011529768.2:c.452T>A XP_011528070.1:p.Val151Asp
XM_011529770.2:c.491T>A XP_011528072.1:p.Val164Asp
XM_017028487.1:c.338T>A XP_016883976.1:p.Val113Asp
XR_937576.2:n.717T>A
NM_001001890.3:c.410T>A NP_001001890.1:p.Val137Asp
NM_001122607.2:c.410T>A NP_001116079.1:p.Val137Asp
NM_001754.5:c.491T>A MANE Select NP_001745.2:p.Val164Asp
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