Canonical Allele Identifier: CA410203907

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 1063502
• ClinVar RCV Id: RCV001373342
• dbSNP Id: rs769235124
• gnomAD v4: 21-34886988-C-T
• MyVariant Identifiers: chr21:g.36259285C>T (hg19) ; chr21:g.34886988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886988C>T , CM000683.2:g.34886988C>T	GRCh38
NC_000021.8:g.36259285C>T , CM000683.1:g.36259285C>T	GRCh37
NC_000021.7:g.35181155C>T	NCBI36
NG_011402.2:g.1102724G>A , LRG_482:g.1102724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.206G>A MANE Select	ENSP00000501943.1:p.Gly69Asp
ENST00000300305.7:c.206G>A	ENSP00000300305.3:p.Gly69Asp
ENST00000344691.8:c.125G>A	ENSP00000340690.4:p.Gly42Asp
ENST00000358356.9:c.125G>A	ENSP00000351123.5:p.Gly42Asp
ENST00000399237.6:c.170G>A	ENSP00000382182.2:p.Gly57Asp
ENST00000399240.5:c.125G>A	ENSP00000382184.1:p.Gly42Asp
ENST00000437180.5:c.206G>A	ENSP00000409227.1:p.Gly69Asp
ENST00000455571.5:c.167G>A	ENSP00000388189.1:p.Gly56Asp
ENST00000482318.5:c.59-6275G>A	ENSP00000477067.1:n.59-6275G>A
NM_001001890.2:c.125G>A	NP_001001890.1:p.Gly42Asp
NM_001122607.1:c.125G>A	NP_001116079.1:p.Gly42Asp
NM_001754.4:c.206G>A , LRG_482t1:c.206G>A	NP_001745.2:p.Gly69Asp
XM_005261068.3:c.170G>A	XP_005261125.1:p.Gly57Asp
XM_005261069.3:c.206G>A	XP_005261126.1:p.Gly69Asp
XM_011529766.1:c.206G>A	XP_011528068.1:p.Gly69Asp
XM_011529767.1:c.167G>A	XP_011528069.1:p.Gly56Asp
XM_011529768.1:c.167G>A	XP_011528070.1:p.Gly56Asp
XM_011529770.1:c.206G>A	XP_011528072.1:p.Gly69Asp
XR_937576.1:n.385G>A
XM_005261069.4:c.206G>A	XP_005261126.1:p.Gly69Asp
XM_011529766.2:c.206G>A	XP_011528068.1:p.Gly69Asp
XM_011529767.2:c.167G>A	XP_011528069.1:p.Gly56Asp
XM_011529768.2:c.167G>A	XP_011528070.1:p.Gly56Asp
XM_011529770.2:c.206G>A	XP_011528072.1:p.Gly69Asp
XM_017028487.1:c.53G>A	XP_016883976.1:p.Gly18Asp
XR_937576.2:n.432G>A
NM_001001890.3:c.125G>A	NP_001001890.1:p.Gly42Asp
NM_001122607.2:c.125G>A	NP_001116079.1:p.Gly42Asp
NM_001754.5:c.206G>A MANE Select	NP_001745.2:p.Gly69Asp