Canonical Allele Identifier: CA512318891

Gene: RUNX1

Linked Data

• MyVariant Identifiers: chr21:g.36259245C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886948C>A , CM000683.2:g.34886948C>A	GRCh38
NC_000021.8:g.36259245C>A , CM000683.1:g.36259245C>A	GRCh37
NC_000021.7:g.35181115C>A	NCBI36
NG_011402.2:g.1102764G>T , LRG_482:g.1102764G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.246G>T MANE Select	ENSP00000501943.1:p.Leu82=
ENST00000300305.7:c.246G>T	ENSP00000300305.3:p.Leu82=
ENST00000344691.8:c.165G>T	ENSP00000340690.4:p.Leu55=
ENST00000358356.9:c.165G>T	ENSP00000351123.5:p.Leu55=
ENST00000399237.6:c.210G>T	ENSP00000382182.2:p.Leu70=
ENST00000399240.5:c.165G>T	ENSP00000382184.1:p.Leu55=
ENST00000437180.5:c.246G>T	ENSP00000409227.1:p.Leu82=
ENST00000455571.5:c.207G>T	ENSP00000388189.1:p.Leu69=
ENST00000482318.5:c.59-6235G>T	ENSP00000477067.1:n.59-6235G>T
NM_001001890.2:c.165G>T	NP_001001890.1:p.Leu55=
NM_001122607.1:c.165G>T	NP_001116079.1:p.Leu55=
NM_001754.4:c.246G>T , LRG_482t1:c.246G>T	NP_001745.2:p.Leu82=
XM_005261068.3:c.210G>T	XP_005261125.1:p.Leu70=
XM_005261069.3:c.246G>T	XP_005261126.1:p.Leu82=
XM_011529766.1:c.246G>T	XP_011528068.1:p.Leu82=
XM_011529767.1:c.207G>T	XP_011528069.1:p.Leu69=
XM_011529768.1:c.207G>T	XP_011528070.1:p.Leu69=
XM_011529770.1:c.246G>T	XP_011528072.1:p.Leu82=
XR_937576.1:n.425G>T
XM_005261069.4:c.246G>T	XP_005261126.1:p.Leu82=
XM_011529766.2:c.246G>T	XP_011528068.1:p.Leu82=
XM_011529767.2:c.207G>T	XP_011528069.1:p.Leu69=
XM_011529768.2:c.207G>T	XP_011528070.1:p.Leu69=
XM_011529770.2:c.246G>T	XP_011528072.1:p.Leu82=
XM_017028487.1:c.93G>T	XP_016883976.1:p.Leu31=
XR_937576.2:n.472G>T
NM_001001890.3:c.165G>T	NP_001001890.1:p.Leu55=
NM_001122607.2:c.165G>T	NP_001116079.1:p.Leu55=
NM_001754.5:c.246G>T MANE Select	NP_001745.2:p.Leu82=