Canonical Allele Identifier: CA10014578

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 239045
• ClinVar RCV Id: RCV002256141 ; RCV002277588 ; RCV003891806
• dbSNP Id: rs111527738
• ExAC: 21:36259324 A / G
• gnomAD v2: 21-36259324-A-G
• gnomAD v3: 21-34887027-A-G
• gnomAD v4: 21-34887027-A-G
• MyVariant Identifiers: chr21:g.36259324A>G (hg19) ; chr21:g.34887027A>G (hg38)
• ERepo: CA10014578/MONDO:0011071/008

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34887027A>G , CM000683.2:g.34887027A>G	GRCh38
NC_000021.8:g.36259324A>G , CM000683.1:g.36259324A>G	GRCh37
NC_000021.7:g.35181194A>G	NCBI36
NG_011402.2:g.1102685T>C , LRG_482:g.1102685T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.167T>C MANE Select	ENSP00000501943.1:p.Leu56Ser
ENST00000300305.7:c.167T>C	ENSP00000300305.3:p.Leu56Ser
ENST00000344691.8:c.86T>C	ENSP00000340690.4:p.Leu29Ser
ENST00000358356.9:c.86T>C	ENSP00000351123.5:p.Leu29Ser
ENST00000399237.6:c.131T>C	ENSP00000382182.2:p.Leu44Ser
ENST00000399240.5:c.86T>C	ENSP00000382184.1:p.Leu29Ser
ENST00000437180.5:c.167T>C	ENSP00000409227.1:p.Leu56Ser
ENST00000455571.5:c.128T>C	ENSP00000388189.1:p.Leu43Ser
ENST00000482318.5:c.59-6314T>C	ENSP00000477067.1:n.59-6314T>C
NM_001001890.2:c.86T>C	NP_001001890.1:p.Leu29Ser
NM_001122607.1:c.86T>C	NP_001116079.1:p.Leu29Ser
NM_001754.4:c.167T>C , LRG_482t1:c.167T>C	NP_001745.2:p.Leu56Ser
XM_005261068.3:c.131T>C	XP_005261125.1:p.Leu44Ser
XM_005261069.3:c.167T>C	XP_005261126.1:p.Leu56Ser
XM_011529766.1:c.167T>C	XP_011528068.1:p.Leu56Ser
XM_011529767.1:c.128T>C	XP_011528069.1:p.Leu43Ser
XM_011529768.1:c.128T>C	XP_011528070.1:p.Leu43Ser
XM_011529770.1:c.167T>C	XP_011528072.1:p.Leu56Ser
XR_937576.1:n.346T>C
XM_005261069.4:c.167T>C	XP_005261126.1:p.Leu56Ser
XM_011529766.2:c.167T>C	XP_011528068.1:p.Leu56Ser
XM_011529767.2:c.128T>C	XP_011528069.1:p.Leu43Ser
XM_011529768.2:c.128T>C	XP_011528070.1:p.Leu43Ser
XM_011529770.2:c.167T>C	XP_011528072.1:p.Leu56Ser
XM_017028487.1:c.14T>C	XP_016883976.1:p.Leu5Ser
XR_937576.2:n.393T>C
NM_001001890.3:c.86T>C	NP_001001890.1:p.Leu29Ser
NM_001122607.2:c.86T>C	NP_001116079.1:p.Leu29Ser
NM_001754.5:c.167T>C MANE Select	NP_001745.2:p.Leu56Ser