Canonical Allele Identifier: CA16616270

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 409822
• ClinVar RCV Id: RCV000473754 ; RCV000680407
• dbSNP Id: rs1060502579
• MyVariant Identifiers: chr21:g.36259139C>G (hg19) ; chr21:g.34886842C>G (hg38)
• ERepo: CA16616270/MONDO:0011071/008

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886842C>G , CM000683.2:g.34886842C>G	GRCh38
NC_000021.8:g.36259139C>G , CM000683.1:g.36259139C>G	GRCh37
NC_000021.7:g.35181009C>G	NCBI36
NG_011402.2:g.1102870G>C , LRG_482:g.1102870G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.351+1G>C MANE Select	ENSP00000501943.1:n.351+1G>C
ENST00000300305.7:c.351+1G>C	ENSP00000300305.3:n.351+1G>C
ENST00000344691.8:c.270+1G>C	ENSP00000340690.4:n.270+1G>C
ENST00000358356.9:c.270+1G>C	ENSP00000351123.5:n.270+1G>C
ENST00000399237.6:c.315+1G>C	ENSP00000382182.2:n.315+1G>C
ENST00000399240.5:c.270+1G>C	ENSP00000382184.1:n.270+1G>C
ENST00000437180.5:c.351+1G>C	ENSP00000409227.1:n.351+1G>C
ENST00000455571.5:c.312+1G>C	ENSP00000388189.1:n.312+1G>C
ENST00000482318.5:c.59-6129G>C	ENSP00000477067.1:n.59-6129G>C
NM_001001890.2:c.270+1G>C	NP_001001890.1:n.270+1G>C
NM_001122607.1:c.270+1G>C	NP_001116079.1:n.270+1G>C
NM_001754.4:c.351+1G>C , LRG_482t1:c.351+1G>C	NP_001745.2:n.351+1G>C
XM_005261068.3:c.315+1G>C	XP_005261125.1:n.315+1G>C
XM_005261069.3:c.351+1G>C	XP_005261126.1:n.351+1G>C
XM_011529766.1:c.351+1G>C	XP_011528068.1:n.351+1G>C
XM_011529767.1:c.312+1G>C	XP_011528069.1:n.312+1G>C
XM_011529768.1:c.312+1G>C	XP_011528070.1:n.312+1G>C
XM_011529770.1:c.351+1G>C	XP_011528072.1:n.351+1G>C
XR_937576.1:n.530+1G>C
XM_005261069.4:c.351+1G>C	XP_005261126.1:n.351+1G>C
XM_011529766.2:c.351+1G>C	XP_011528068.1:n.351+1G>C
XM_011529767.2:c.312+1G>C	XP_011528069.1:n.312+1G>C
XM_011529768.2:c.312+1G>C	XP_011528070.1:n.312+1G>C
XM_011529770.2:c.351+1G>C	XP_011528072.1:n.351+1G>C
XM_017028487.1:c.198+1G>C	XP_016883976.1:n.198+1G>C
XR_937576.2:n.577+1G>C
NM_001001890.3:c.270+1G>C	NP_001001890.1:n.270+1G>C
NM_001122607.2:c.270+1G>C	NP_001116079.1:n.270+1G>C
NM_001754.5:c.351+1G>C MANE Select	NP_001745.2:n.351+1G>C