Canonical Allele Identifier: CA123975

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 14469
• ClinVar RCV Id: RCV000015555 ; RCV000015556 ; RCV000549373
• dbSNP Id: rs121912500
• ExAC: 21:36259238 G / T
• gnomAD v2: 21-36259238-G-T
• gnomAD v3: 21-34886941-G-T
• gnomAD v4: 21-34886941-G-T
• COSMIC: COSM24744
• MyVariant Identifiers: chr21:g.36259238G>T (hg19) ; chr21:g.34886941G>T (hg38)
• ERepo: CA123975/MONDO:0011071/008
• PubMed: PMID:10068652 ; PMID:12200707

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886941G>T , CM000683.2:g.34886941G>T	GRCh38
NC_000021.8:g.36259238G>T , CM000683.1:g.36259238G>T	GRCh37
NC_000021.7:g.35181108G>T	NCBI36
NG_011402.2:g.1102771C>A , LRG_482:g.1102771C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.253C>A MANE Select	ENSP00000501943.1:p.His85Asn
ENST00000300305.7:c.253C>A	ENSP00000300305.3:p.His85Asn
ENST00000344691.8:c.172C>A	ENSP00000340690.4:p.His58Asn
ENST00000358356.9:c.172C>A	ENSP00000351123.5:p.His58Asn
ENST00000399237.6:c.217C>A	ENSP00000382182.2:p.His73Asn
ENST00000399240.5:c.172C>A	ENSP00000382184.1:p.His58Asn
ENST00000437180.5:c.253C>A	ENSP00000409227.1:p.His85Asn
ENST00000455571.5:c.214C>A	ENSP00000388189.1:p.His72Asn
ENST00000482318.5:c.59-6228C>A	ENSP00000477067.1:n.59-6228C>A
NM_001001890.2:c.172C>A	NP_001001890.1:p.His58Asn
NM_001122607.1:c.172C>A	NP_001116079.1:p.His58Asn
NM_001754.4:c.253C>A , LRG_482t1:c.253C>A	NP_001745.2:p.His85Asn
XM_005261068.3:c.217C>A	XP_005261125.1:p.His73Asn
XM_005261069.3:c.253C>A	XP_005261126.1:p.His85Asn
XM_011529766.1:c.253C>A	XP_011528068.1:p.His85Asn
XM_011529767.1:c.214C>A	XP_011528069.1:p.His72Asn
XM_011529768.1:c.214C>A	XP_011528070.1:p.His72Asn
XM_011529770.1:c.253C>A	XP_011528072.1:p.His85Asn
XR_937576.1:n.432C>A
XM_005261069.4:c.253C>A	XP_005261126.1:p.His85Asn
XM_011529766.2:c.253C>A	XP_011528068.1:p.His85Asn
XM_011529767.2:c.214C>A	XP_011528069.1:p.His72Asn
XM_011529768.2:c.214C>A	XP_011528070.1:p.His72Asn
XM_011529770.2:c.253C>A	XP_011528072.1:p.His85Asn
XM_017028487.1:c.100C>A	XP_016883976.1:p.His34Asn
XR_937576.2:n.479C>A
NM_001001890.3:c.172C>A	NP_001001890.1:p.His58Asn
NM_001122607.2:c.172C>A	NP_001116079.1:p.His58Asn
NM_001754.5:c.253C>A MANE Select	NP_001745.2:p.His85Asn