Canonical Allele Identifier: CA410203370

Gene: RUNX1

Linked Data

• MyVariant Identifiers: chr21:g.36259147G>T (hg19) ; chr21:g.34886850G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886850G>T , CM000683.2:g.34886850G>T	GRCh38
NC_000021.8:g.36259147G>T , CM000683.1:g.36259147G>T	GRCh37
NC_000021.7:g.35181017G>T	NCBI36
NG_011402.2:g.1102862C>A , LRG_482:g.1102862C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.344C>A MANE Select	ENSP00000501943.1:p.Ala115Asp
ENST00000300305.7:c.344C>A	ENSP00000300305.3:p.Ala115Asp
ENST00000344691.8:c.263C>A	ENSP00000340690.4:p.Ala88Asp
ENST00000358356.9:c.263C>A	ENSP00000351123.5:p.Ala88Asp
ENST00000399237.6:c.308C>A	ENSP00000382182.2:p.Ala103Asp
ENST00000399240.5:c.263C>A	ENSP00000382184.1:p.Ala88Asp
ENST00000437180.5:c.344C>A	ENSP00000409227.1:p.Ala115Asp
ENST00000455571.5:c.305C>A	ENSP00000388189.1:p.Ala102Asp
ENST00000482318.5:c.59-6137C>A	ENSP00000477067.1:n.59-6137C>A
NM_001001890.2:c.263C>A	NP_001001890.1:p.Ala88Asp
NM_001122607.1:c.263C>A	NP_001116079.1:p.Ala88Asp
NM_001754.4:c.344C>A , LRG_482t1:c.344C>A	NP_001745.2:p.Ala115Asp
XM_005261068.3:c.308C>A	XP_005261125.1:p.Ala103Asp
XM_005261069.3:c.344C>A	XP_005261126.1:p.Ala115Asp
XM_011529766.1:c.344C>A	XP_011528068.1:p.Ala115Asp
XM_011529767.1:c.305C>A	XP_011528069.1:p.Ala102Asp
XM_011529768.1:c.305C>A	XP_011528070.1:p.Ala102Asp
XM_011529770.1:c.344C>A	XP_011528072.1:p.Ala115Asp
XR_937576.1:n.523C>A
XM_005261069.4:c.344C>A	XP_005261126.1:p.Ala115Asp
XM_011529766.2:c.344C>A	XP_011528068.1:p.Ala115Asp
XM_011529767.2:c.305C>A	XP_011528069.1:p.Ala102Asp
XM_011529768.2:c.305C>A	XP_011528070.1:p.Ala102Asp
XM_011529770.2:c.344C>A	XP_011528072.1:p.Ala115Asp
XM_017028487.1:c.191C>A	XP_016883976.1:p.Ala64Asp
XR_937576.2:n.570C>A
NM_001001890.3:c.263C>A	NP_001001890.1:p.Ala88Asp
NM_001122607.2:c.263C>A	NP_001116079.1:p.Ala88Asp
NM_001754.5:c.344C>A MANE Select	NP_001745.2:p.Ala115Asp