Canonical Allele Identifier: CA410202571

Gene: RUNX1

Linked Data

• MyVariant Identifiers: chr21:g.36252905T>G (hg19) ; chr21:g.34880608T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880608T>G , CM000683.2:g.34880608T>G	GRCh38
NC_000021.8:g.36252905T>G , CM000683.1:g.36252905T>G	GRCh37
NC_000021.7:g.35174775T>G	NCBI36
NG_011402.2:g.1109104A>C , LRG_482:g.1109104A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.457A>C MANE Select	ENSP00000501943.1:p.Asn153His
ENST00000300305.7:c.457A>C	ENSP00000300305.3:p.Asn153His
ENST00000344691.8:c.376A>C	ENSP00000340690.4:p.Asn126His
ENST00000358356.9:c.376A>C	ENSP00000351123.5:p.Asn126His
ENST00000399237.6:c.421A>C	ENSP00000382182.2:p.Asn141His
ENST00000399240.5:c.376A>C	ENSP00000382184.1:p.Asn126His
ENST00000437180.5:c.457A>C	ENSP00000409227.1:p.Asn153His
ENST00000455571.5:c.418A>C	ENSP00000388189.1:p.Asn140His
ENST00000482318.5:c.*47A>C	ENSP00000477067.1:n.*47A>C
NM_001001890.2:c.376A>C	NP_001001890.1:p.Asn126His
NM_001122607.1:c.376A>C	NP_001116079.1:p.Asn126His
NM_001754.4:c.457A>C , LRG_482t1:c.457A>C	NP_001745.2:p.Asn153His
XM_005261068.3:c.421A>C	XP_005261125.1:p.Asn141His
XM_005261069.3:c.457A>C	XP_005261126.1:p.Asn153His
XM_011529766.1:c.457A>C	XP_011528068.1:p.Asn153His
XM_011529767.1:c.418A>C	XP_011528069.1:p.Asn140His
XM_011529768.1:c.418A>C	XP_011528070.1:p.Asn140His
XM_011529770.1:c.457A>C	XP_011528072.1:p.Asn153His
XR_937576.1:n.636A>C
XM_005261069.4:c.457A>C	XP_005261126.1:p.Asn153His
XM_011529766.2:c.457A>C	XP_011528068.1:p.Asn153His
XM_011529767.2:c.418A>C	XP_011528069.1:p.Asn140His
XM_011529768.2:c.418A>C	XP_011528070.1:p.Asn140His
XM_011529770.2:c.457A>C	XP_011528072.1:p.Asn153His
XM_017028487.1:c.304A>C	XP_016883976.1:p.Asn102His
XR_937576.2:n.683A>C
NM_001001890.3:c.376A>C	NP_001001890.1:p.Asn126His
NM_001122607.2:c.376A>C	NP_001116079.1:p.Asn126His
NM_001754.5:c.457A>C MANE Select	NP_001745.2:p.Asn153His