Canonical Allele Identifier: CA10014585

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 239043
• ClinVar RCV Id: RCV000229084 ; RCV001571110 ; RCV001818591 ; RCV001290691
• dbSNP Id: rs147889692
• ExAC: 21:36259347 G / A
• gnomAD v2: 21-36259347-G-A
• gnomAD v3: 21-34887050-G-A
• gnomAD v4: 21-34887050-G-A
• MyVariant Identifiers: chr21:g.36259347G>A (hg19) ; chr21:g.34887050G>A (hg38)
• ERepo: CA10014585/MONDO:0011071/008

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34887050G>A , CM000683.2:g.34887050G>A	GRCh38
NC_000021.8:g.36259347G>A , CM000683.1:g.36259347G>A	GRCh37
NC_000021.7:g.35181217G>A	NCBI36
NG_011402.2:g.1102662C>T , LRG_482:g.1102662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.144C>T MANE Select	ENSP00000501943.1:p.Ser48=
ENST00000300305.7:c.144C>T	ENSP00000300305.3:p.Ser48=
ENST00000344691.8:c.63C>T	ENSP00000340690.4:p.Ser21=
ENST00000358356.9:c.63C>T	ENSP00000351123.5:p.Ser21=
ENST00000399237.6:c.108C>T	ENSP00000382182.2:p.Ser36=
ENST00000399240.5:c.63C>T	ENSP00000382184.1:p.Ser21=
ENST00000437180.5:c.144C>T	ENSP00000409227.1:p.Ser48=
ENST00000455571.5:c.105C>T	ENSP00000388189.1:p.Ser35=
ENST00000475045.6:c.144C>T	ENSP00000477072.1:p.Ser48=
ENST00000482318.5:c.59-6337C>T	ENSP00000477067.1:n.59-6337C>T
NM_001001890.2:c.63C>T	NP_001001890.1:p.Ser21=
NM_001122607.1:c.63C>T	NP_001116079.1:p.Ser21=
NM_001754.4:c.144C>T , LRG_482t1:c.144C>T	NP_001745.2:p.Ser48=
XM_005261068.3:c.108C>T	XP_005261125.1:p.Ser36=
XM_005261069.3:c.144C>T	XP_005261126.1:p.Ser48=
XM_011529766.1:c.144C>T	XP_011528068.1:p.Ser48=
XM_011529767.1:c.105C>T	XP_011528069.1:p.Ser35=
XM_011529768.1:c.105C>T	XP_011528070.1:p.Ser35=
XM_011529770.1:c.144C>T	XP_011528072.1:p.Ser48=
XR_937576.1:n.323C>T
XM_005261069.4:c.144C>T	XP_005261126.1:p.Ser48=
XM_011529766.2:c.144C>T	XP_011528068.1:p.Ser48=
XM_011529767.2:c.105C>T	XP_011528069.1:p.Ser35=
XM_011529768.2:c.105C>T	XP_011528070.1:p.Ser35=
XM_011529770.2:c.144C>T	XP_011528072.1:p.Ser48=
XM_017028487.1:c.-10C>T	XP_016883976.1:n.-10C>T
XR_937576.2:n.370C>T
NM_001001890.3:c.63C>T	NP_001001890.1:p.Ser21=
NM_001122607.2:c.63C>T	NP_001116079.1:p.Ser21=
NM_001754.5:c.144C>T MANE Select	NP_001745.2:p.Ser48=