Canonical Allele Identifier: CA410206778

Gene: RUNX1

Linked Data

• MyVariant Identifiers: chr21:g.36206767G>C (hg19) ; chr21:g.34834470G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34834470G>C , CM000683.2:g.34834470G>C	GRCh38
NC_000021.8:g.36206767G>C , CM000683.1:g.36206767G>C	GRCh37
NC_000021.7:g.35128637G>C	NCBI36
NG_011402.2:g.1155242C>G , LRG_482:g.1155242C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.745C>G MANE Select	ENSP00000501943.1:p.Pro249Ala
ENST00000300305.7:c.745C>G	ENSP00000300305.3:p.Pro249Ala
ENST00000344691.8:c.664C>G	ENSP00000340690.4:p.Pro222Ala
ENST00000358356.9:c.664C>G	ENSP00000351123.5:p.Pro222Ala
ENST00000399237.6:c.709C>G	ENSP00000382182.2:p.Pro237Ala
ENST00000399240.5:c.532+25004C>G	ENSP00000382184.1:n.532+25004C>G
ENST00000437180.5:c.745C>G	ENSP00000409227.1:p.Pro249Ala
ENST00000469087.1:n.281C>G
ENST00000482318.5:c.*335C>G	ENSP00000477067.1:n.*335C>G
NM_001001890.2:c.664C>G	NP_001001890.1:p.Pro222Ala
NM_001122607.1:c.664C>G	NP_001116079.1:p.Pro222Ala
NM_001754.4:c.745C>G , LRG_482t1:c.745C>G	NP_001745.2:p.Pro249Ala
XM_005261068.3:c.709C>G	XP_005261125.1:p.Pro237Ala
XM_005261069.3:c.613+25004C>G	XP_005261126.1:n.613+25004C>G
XM_011529766.1:c.745C>G	XP_011528068.1:p.Pro249Ala
XM_011529767.1:c.706C>G	XP_011528069.1:p.Pro236Ala
XM_011529768.1:c.574+25004C>G	XP_011528070.1:n.574+25004C>G
XM_011529770.1:c.745C>G	XP_011528072.1:p.Pro249Ala
XR_937576.1:n.924C>G
XM_005261069.4:c.613+25004C>G	XP_005261126.1:n.613+25004C>G
XM_011529766.2:c.745C>G	XP_011528068.1:p.Pro249Ala
XM_011529767.2:c.706C>G	XP_011528069.1:p.Pro236Ala
XM_011529768.2:c.574+25004C>G	XP_011528070.1:n.574+25004C>G
XM_011529770.2:c.745C>G	XP_011528072.1:p.Pro249Ala
XM_017028487.1:c.592C>G	XP_016883976.1:p.Pro198Ala
XR_937576.2:n.971C>G
NM_001001890.3:c.664C>G	NP_001001890.1:p.Pro222Ala
NM_001122607.2:c.664C>G	NP_001116079.1:p.Pro222Ala
NM_001754.5:c.745C>G MANE Select	NP_001745.2:p.Pro249Ala