Canonical Allele Identifier: CA410207076

Gene: RUNX1

Linked Data

• MyVariant Identifiers: chr21:g.36206869T>A (hg19) ; chr21:g.34834572T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34834572T>A , CM000683.2:g.34834572T>A	GRCh38
NC_000021.8:g.36206869T>A , CM000683.1:g.36206869T>A	GRCh37
NC_000021.7:g.35128739T>A	NCBI36
NG_011402.2:g.1155140A>T , LRG_482:g.1155140A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.643A>T MANE Select	ENSP00000501943.1:p.Lys215Ter
ENST00000300305.7:c.643A>T	ENSP00000300305.3:p.Lys215Ter
ENST00000344691.8:c.562A>T	ENSP00000340690.4:p.Lys188Ter
ENST00000358356.9:c.562A>T	ENSP00000351123.5:p.Lys188Ter
ENST00000399237.6:c.607A>T	ENSP00000382182.2:p.Lys203Ter
ENST00000399240.5:c.532+24902A>T	ENSP00000382184.1:n.532+24902A>T
ENST00000437180.5:c.643A>T	ENSP00000409227.1:p.Lys215Ter
ENST00000469087.1:n.179A>T
ENST00000482318.5:c.*233A>T	ENSP00000477067.1:n.*233A>T
NM_001001890.2:c.562A>T	NP_001001890.1:p.Lys188Ter
NM_001122607.1:c.562A>T	NP_001116079.1:p.Lys188Ter
NM_001754.4:c.643A>T , LRG_482t1:c.643A>T	NP_001745.2:p.Lys215Ter
XM_005261068.3:c.607A>T	XP_005261125.1:p.Lys203Ter
XM_005261069.3:c.613+24902A>T	XP_005261126.1:n.613+24902A>T
XM_011529766.1:c.643A>T	XP_011528068.1:p.Lys215Ter
XM_011529767.1:c.604A>T	XP_011528069.1:p.Lys202Ter
XM_011529768.1:c.574+24902A>T	XP_011528070.1:n.574+24902A>T
XM_011529770.1:c.643A>T	XP_011528072.1:p.Lys215Ter
XR_937576.1:n.822A>T
XM_005261069.4:c.613+24902A>T	XP_005261126.1:n.613+24902A>T
XM_011529766.2:c.643A>T	XP_011528068.1:p.Lys215Ter
XM_011529767.2:c.604A>T	XP_011528069.1:p.Lys202Ter
XM_011529768.2:c.574+24902A>T	XP_011528070.1:n.574+24902A>T
XM_011529770.2:c.643A>T	XP_011528072.1:p.Lys215Ter
XM_017028487.1:c.490A>T	XP_016883976.1:p.Lys164Ter
XR_937576.2:n.869A>T
NM_001001890.3:c.562A>T	NP_001001890.1:p.Lys188Ter
NM_001122607.2:c.562A>T	NP_001116079.1:p.Lys188Ter
NM_001754.5:c.643A>T MANE Select	NP_001745.2:p.Lys215Ter