Canonical Allele Identifier: CA410203814

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 1482816
• ClinVar RCV Id: RCV001995816
• dbSNP Id: rs2146410813
• MyVariant Identifiers: chr21:g.36259246A>T (hg19) ; chr21:g.34886949A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886949A>T , CM000683.2:g.34886949A>T	GRCh38
NC_000021.8:g.36259246A>T , CM000683.1:g.36259246A>T	GRCh37
NC_000021.7:g.35181116A>T	NCBI36
NG_011402.2:g.1102763T>A , LRG_482:g.1102763T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.245T>A MANE Select	ENSP00000501943.1:p.Leu82Gln
ENST00000300305.7:c.245T>A	ENSP00000300305.3:p.Leu82Gln
ENST00000344691.8:c.164T>A	ENSP00000340690.4:p.Leu55Gln
ENST00000358356.9:c.164T>A	ENSP00000351123.5:p.Leu55Gln
ENST00000399237.6:c.209T>A	ENSP00000382182.2:p.Leu70Gln
ENST00000399240.5:c.164T>A	ENSP00000382184.1:p.Leu55Gln
ENST00000437180.5:c.245T>A	ENSP00000409227.1:p.Leu82Gln
ENST00000455571.5:c.206T>A	ENSP00000388189.1:p.Leu69Gln
ENST00000482318.5:c.59-6236T>A	ENSP00000477067.1:n.59-6236T>A
NM_001001890.2:c.164T>A	NP_001001890.1:p.Leu55Gln
NM_001122607.1:c.164T>A	NP_001116079.1:p.Leu55Gln
NM_001754.4:c.245T>A , LRG_482t1:c.245T>A	NP_001745.2:p.Leu82Gln
XM_005261068.3:c.209T>A	XP_005261125.1:p.Leu70Gln
XM_005261069.3:c.245T>A	XP_005261126.1:p.Leu82Gln
XM_011529766.1:c.245T>A	XP_011528068.1:p.Leu82Gln
XM_011529767.1:c.206T>A	XP_011528069.1:p.Leu69Gln
XM_011529768.1:c.206T>A	XP_011528070.1:p.Leu69Gln
XM_011529770.1:c.245T>A	XP_011528072.1:p.Leu82Gln
XR_937576.1:n.424T>A
XM_005261069.4:c.245T>A	XP_005261126.1:p.Leu82Gln
XM_011529766.2:c.245T>A	XP_011528068.1:p.Leu82Gln
XM_011529767.2:c.206T>A	XP_011528069.1:p.Leu69Gln
XM_011529768.2:c.206T>A	XP_011528070.1:p.Leu69Gln
XM_011529770.2:c.245T>A	XP_011528072.1:p.Leu82Gln
XM_017028487.1:c.92T>A	XP_016883976.1:p.Leu31Gln
XR_937576.2:n.471T>A
NM_001001890.3:c.164T>A	NP_001001890.1:p.Leu55Gln
NM_001122607.2:c.164T>A	NP_001116079.1:p.Leu55Gln
NM_001754.5:c.245T>A MANE Select	NP_001745.2:p.Leu82Gln