Canonical Allele Identifier: CA248628

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 14471
• ClinVar RCV Id: RCV000015558
• dbSNP Id: rs267607026
• MyVariant Identifiers: chr21:g.36252895G>T (hg19) ; chr21:g.34880598G>T (hg38)
• PubMed: PMID:19357396
• ERepo: CA248628/MONDO:0011071/008

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880598G>T , CM000683.2:g.34880598G>T	GRCh38
NC_000021.8:g.36252895G>T , CM000683.1:g.36252895G>T	GRCh37
NC_000021.7:g.35174765G>T	NCBI36
NG_011402.2:g.1109114C>A , LRG_482:g.1109114C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.467C>A MANE Select	ENSP00000501943.1:p.Ala156Glu
ENST00000300305.7:c.467C>A	ENSP00000300305.3:p.Ala156Glu
ENST00000344691.8:c.386C>A	ENSP00000340690.4:p.Ala129Glu
ENST00000358356.9:c.386C>A	ENSP00000351123.5:p.Ala129Glu
ENST00000399237.6:c.431C>A	ENSP00000382182.2:p.Ala144Glu
ENST00000399240.5:c.386C>A	ENSP00000382184.1:p.Ala129Glu
ENST00000437180.5:c.467C>A	ENSP00000409227.1:p.Ala156Glu
ENST00000482318.5:c.*57C>A	ENSP00000477067.1:n.*57C>A
NM_001001890.2:c.386C>A	NP_001001890.1:p.Ala129Glu
NM_001122607.1:c.386C>A	NP_001116079.1:p.Ala129Glu
NM_001754.4:c.467C>A , LRG_482t1:c.467C>A	NP_001745.2:p.Ala156Glu
XM_005261068.3:c.431C>A	XP_005261125.1:p.Ala144Glu
XM_005261069.3:c.467C>A	XP_005261126.1:p.Ala156Glu
XM_011529766.1:c.467C>A	XP_011528068.1:p.Ala156Glu
XM_011529767.1:c.428C>A	XP_011528069.1:p.Ala143Glu
XM_011529768.1:c.428C>A	XP_011528070.1:p.Ala143Glu
XM_011529770.1:c.467C>A	XP_011528072.1:p.Ala156Glu
XR_937576.1:n.646C>A
XM_005261069.4:c.467C>A	XP_005261126.1:p.Ala156Glu
XM_011529766.2:c.467C>A	XP_011528068.1:p.Ala156Glu
XM_011529767.2:c.428C>A	XP_011528069.1:p.Ala143Glu
XM_011529768.2:c.428C>A	XP_011528070.1:p.Ala143Glu
XM_011529770.2:c.467C>A	XP_011528072.1:p.Ala156Glu
XM_017028487.1:c.314C>A	XP_016883976.1:p.Ala105Glu
XR_937576.2:n.693C>A
NM_001001890.3:c.386C>A	NP_001001890.1:p.Ala129Glu
NM_001122607.2:c.386C>A	NP_001116079.1:p.Ala129Glu
NM_001754.5:c.467C>A MANE Select	NP_001745.2:p.Ala156Glu