Canonical Allele Identifier: CA410203368

Gene: RUNX1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.344C>T MANE Select	ENSP00000501943.1:p.Ala115Val
ENST00000300305.7:c.344C>T	ENSP00000300305.3:p.Ala115Val
ENST00000344691.8:c.263C>T	ENSP00000340690.4:p.Ala88Val
ENST00000358356.9:c.263C>T	ENSP00000351123.5:p.Ala88Val
ENST00000399237.6:c.308C>T	ENSP00000382182.2:p.Ala103Val
ENST00000399240.5:c.263C>T	ENSP00000382184.1:p.Ala88Val
ENST00000437180.5:c.344C>T	ENSP00000409227.1:p.Ala115Val
ENST00000455571.5:c.305C>T	ENSP00000388189.1:p.Ala102Val
ENST00000482318.5:c.59-6137C>T	ENSP00000477067.1:n.59-6137C>T
NM_001001890.2:c.263C>T	NP_001001890.1:p.Ala88Val
NM_001122607.1:c.263C>T	NP_001116079.1:p.Ala88Val
NM_001754.4:c.344C>T , LRG_482t1:c.344C>T	NP_001745.2:p.Ala115Val
XM_005261068.3:c.308C>T	XP_005261125.1:p.Ala103Val
XM_005261069.3:c.344C>T	XP_005261126.1:p.Ala115Val
XM_011529766.1:c.344C>T	XP_011528068.1:p.Ala115Val
XM_011529767.1:c.305C>T	XP_011528069.1:p.Ala102Val
XM_011529768.1:c.305C>T	XP_011528070.1:p.Ala102Val
XM_011529770.1:c.344C>T	XP_011528072.1:p.Ala115Val
XR_937576.1:n.523C>T
XM_005261069.4:c.344C>T	XP_005261126.1:p.Ala115Val
XM_011529766.2:c.344C>T	XP_011528068.1:p.Ala115Val
XM_011529767.2:c.305C>T	XP_011528069.1:p.Ala102Val
XM_011529768.2:c.305C>T	XP_011528070.1:p.Ala102Val
XM_011529770.2:c.344C>T	XP_011528072.1:p.Ala115Val
XM_017028487.1:c.191C>T	XP_016883976.1:p.Ala64Val
XR_937576.2:n.570C>T
NM_001001890.3:c.263C>T	NP_001001890.1:p.Ala88Val
NM_001122607.2:c.263C>T	NP_001116079.1:p.Ala88Val
NM_001754.5:c.344C>T MANE Select	NP_001745.2:p.Ala115Val