Canonical Allele Identifier: CA320650237

Gene: RUNX1

Linked Data

• dbSNP Id: rs980961149
• gnomAD v2: 21-36267486-G-T
• gnomAD v3: 21-34895189-G-T
• gnomAD v4: 21-34895189-G-T
• MyVariant Identifiers: chr21:g.36267486G>T (hg19) ; chr21:g.34895189G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34895189G>T , CM000683.2:g.34895189G>T	GRCh38
NC_000021.8:g.36267486G>T , CM000683.1:g.36267486G>T	GRCh37
NC_000021.7:g.35189356G>T	NCBI36
NG_011402.2:g.1094523C>A , LRG_482:g.1094523C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.59-2226C>A MANE Select	ENSP00000501943.1:n.59-2226C>A
ENST00000300305.7:c.59-2226C>A	ENSP00000300305.3:n.59-2226C>A
ENST00000416754.1:c.59-2226C>A	ENSP00000405158.1:n.59-2226C>A
ENST00000437180.5:c.59-2226C>A	ENSP00000409227.1:n.59-2226C>A
ENST00000455571.5:c.59-8093C>A	ENSP00000388189.1:n.59-8093C>A
ENST00000475045.6:c.59-2226C>A	ENSP00000477072.1:n.59-2226C>A
ENST00000482318.5:c.59-14476C>A	ENSP00000477067.1:n.59-14476C>A
NM_001754.4:c.59-2226C>A , LRG_482t1:c.59-2226C>A	NP_001745.2:n.59-2226C>A
XM_005261069.3:c.59-2226C>A	XP_005261126.1:n.59-2226C>A
XM_011529766.1:c.59-2226C>A	XP_011528068.1:n.59-2226C>A
XM_011529767.1:c.59-8093C>A	XP_011528069.1:n.59-8093C>A
XM_011529768.1:c.59-8093C>A	XP_011528070.1:n.59-8093C>A
XM_011529770.1:c.59-2226C>A	XP_011528072.1:n.59-2226C>A
XR_937576.1:n.238-2226C>A
XM_005261069.4:c.59-2226C>A	XP_005261126.1:n.59-2226C>A
XM_011529766.2:c.59-2226C>A	XP_011528068.1:n.59-2226C>A
XM_011529767.2:c.59-8093C>A	XP_011528069.1:n.59-8093C>A
XM_011529768.2:c.59-8093C>A	XP_011528070.1:n.59-8093C>A
XM_011529770.2:c.59-2226C>A	XP_011528072.1:n.59-2226C>A
XR_937576.2:n.285-2226C>A
NM_001754.5:c.59-2226C>A MANE Select	NP_001745.2:n.59-2226C>A