Canonical Allele Identifier: CA16622098

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 1337164
• ClinVar RCV Id: RCV001819650 ; RCV001869706
• dbSNP Id: rs2058000249
• MyVariant Identifiers: chr21:g.36259239G>C (hg19) ; chr21:g.34886942G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886942G>C , CM000683.2:g.34886942G>C	GRCh38
NC_000021.8:g.36259239G>C , CM000683.1:g.36259239G>C	GRCh37
NC_000021.7:g.35181109G>C	NCBI36
NG_011402.2:g.1102770C>G , LRG_482:g.1102770C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.252C>G MANE Select	ENSP00000501943.1:p.Asp84Glu
ENST00000300305.7:c.252C>G	ENSP00000300305.3:p.Asp84Glu
ENST00000344691.8:c.171C>G	ENSP00000340690.4:p.Asp57Glu
ENST00000358356.9:c.171C>G	ENSP00000351123.5:p.Asp57Glu
ENST00000399237.6:c.216C>G	ENSP00000382182.2:p.Asp72Glu
ENST00000399240.5:c.171C>G	ENSP00000382184.1:p.Asp57Glu
ENST00000437180.5:c.252C>G	ENSP00000409227.1:p.Asp84Glu
ENST00000455571.5:c.213C>G	ENSP00000388189.1:p.Asp71Glu
ENST00000482318.5:c.59-6229C>G	ENSP00000477067.1:n.59-6229C>G
NM_001001890.2:c.171C>G	NP_001001890.1:p.Asp57Glu
NM_001122607.1:c.171C>G	NP_001116079.1:p.Asp57Glu
NM_001754.4:c.252C>G , LRG_482t1:c.252C>G	NP_001745.2:p.Asp84Glu
XM_005261068.3:c.216C>G	XP_005261125.1:p.Asp72Glu
XM_005261069.3:c.252C>G	XP_005261126.1:p.Asp84Glu
XM_011529766.1:c.252C>G	XP_011528068.1:p.Asp84Glu
XM_011529767.1:c.213C>G	XP_011528069.1:p.Asp71Glu
XM_011529768.1:c.213C>G	XP_011528070.1:p.Asp71Glu
XM_011529770.1:c.252C>G	XP_011528072.1:p.Asp84Glu
XR_937576.1:n.431C>G
XM_005261069.4:c.252C>G	XP_005261126.1:p.Asp84Glu
XM_011529766.2:c.252C>G	XP_011528068.1:p.Asp84Glu
XM_011529767.2:c.213C>G	XP_011528069.1:p.Asp71Glu
XM_011529768.2:c.213C>G	XP_011528070.1:p.Asp71Glu
XM_011529770.2:c.252C>G	XP_011528072.1:p.Asp84Glu
XM_017028487.1:c.99C>G	XP_016883976.1:p.Asp33Glu
XR_937576.2:n.478C>G
NM_001001890.3:c.171C>G	NP_001001890.1:p.Asp57Glu
NM_001122607.2:c.171C>G	NP_001116079.1:p.Asp57Glu
NM_001754.5:c.252C>G MANE Select	NP_001745.2:p.Asp84Glu