Canonical Allele Identifier: CA248819

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 212089
• ClinVar RCV Id: RCV000192486 ; RCV001815245
• dbSNP Id: rs797045927
• MyVariant Identifiers: chr21:g.36231827A>T (hg19) ; chr21:g.34859530A>T (hg38)
• ERepo: CA248819/MONDO:0011071/008

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34859530A>T , CM000683.2:g.34859530A>T	GRCh38
NC_000021.8:g.36231827A>T , CM000683.1:g.36231827A>T	GRCh37
NC_000021.7:g.35153697A>T	NCBI36
NG_011402.2:g.1130182T>A , LRG_482:g.1130182T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.557T>A MANE Select	ENSP00000501943.1:p.Val186Asp
ENST00000300305.7:c.557T>A	ENSP00000300305.3:p.Val186Asp
ENST00000344691.8:c.476T>A	ENSP00000340690.4:p.Val159Asp
ENST00000358356.9:c.476T>A	ENSP00000351123.5:p.Val159Asp
ENST00000399237.6:c.521T>A	ENSP00000382182.2:p.Val174Asp
ENST00000399240.5:c.476T>A	ENSP00000382184.1:p.Val159Asp
ENST00000437180.5:c.557T>A	ENSP00000409227.1:p.Val186Asp
ENST00000467577.1:n.49T>A
ENST00000482318.5:c.*147T>A	ENSP00000477067.1:n.*147T>A
NM_001001890.2:c.476T>A	NP_001001890.1:p.Val159Asp
NM_001122607.1:c.476T>A	NP_001116079.1:p.Val159Asp
NM_001754.4:c.557T>A , LRG_482t1:c.557T>A	NP_001745.2:p.Val186Asp
XM_005261068.3:c.521T>A	XP_005261125.1:p.Val174Asp
XM_005261069.3:c.557T>A	XP_005261126.1:p.Val186Asp
XM_011529766.1:c.557T>A	XP_011528068.1:p.Val186Asp
XM_011529767.1:c.518T>A	XP_011528069.1:p.Val173Asp
XM_011529768.1:c.518T>A	XP_011528070.1:p.Val173Asp
XM_011529770.1:c.557T>A	XP_011528072.1:p.Val186Asp
XR_937576.1:n.736T>A
XM_005261069.4:c.557T>A	XP_005261126.1:p.Val186Asp
XM_011529766.2:c.557T>A	XP_011528068.1:p.Val186Asp
XM_011529767.2:c.518T>A	XP_011528069.1:p.Val173Asp
XM_011529768.2:c.518T>A	XP_011528070.1:p.Val173Asp
XM_011529770.2:c.557T>A	XP_011528072.1:p.Val186Asp
XM_017028487.1:c.404T>A	XP_016883976.1:p.Val135Asp
XR_937576.2:n.783T>A
NM_001001890.3:c.476T>A	NP_001001890.1:p.Val159Asp
NM_001122607.2:c.476T>A	NP_001116079.1:p.Val159Asp
NM_001754.5:c.557T>A MANE Select	NP_001745.2:p.Val186Asp