Canonical Allele Identifier: CA410202488

Gene: RUNX1

Linked Data

• dbSNP Id: rs1060499616
• COSMIC: COSM1413964
• MyVariant Identifiers: chr21:g.36252865C>A (hg19) ; chr21:g.34880568C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880568C>A , CM000683.2:g.34880568C>A	GRCh38
NC_000021.8:g.36252865C>A , CM000683.1:g.36252865C>A	GRCh37
NC_000021.7:g.35174735C>A	NCBI36
NG_011402.2:g.1109144G>T , LRG_482:g.1109144G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.497G>T MANE Select	ENSP00000501943.1:p.Arg166Leu
ENST00000300305.7:c.497G>T	ENSP00000300305.3:p.Arg166Leu
ENST00000344691.8:c.416G>T	ENSP00000340690.4:p.Arg139Leu
ENST00000358356.9:c.416G>T	ENSP00000351123.5:p.Arg139Leu
ENST00000399237.6:c.461G>T	ENSP00000382182.2:p.Arg154Leu
ENST00000399240.5:c.416G>T	ENSP00000382184.1:p.Arg139Leu
ENST00000437180.5:c.497G>T	ENSP00000409227.1:p.Arg166Leu
ENST00000482318.5:c.*87G>T	ENSP00000477067.1:n.*87G>T
NM_001001890.2:c.416G>T	NP_001001890.1:p.Arg139Leu
NM_001122607.1:c.416G>T	NP_001116079.1:p.Arg139Leu
NM_001754.4:c.497G>T , LRG_482t1:c.497G>T	NP_001745.2:p.Arg166Leu
XM_005261068.3:c.461G>T	XP_005261125.1:p.Arg154Leu
XM_005261069.3:c.497G>T	XP_005261126.1:p.Arg166Leu
XM_011529766.1:c.497G>T	XP_011528068.1:p.Arg166Leu
XM_011529767.1:c.458G>T	XP_011528069.1:p.Arg153Leu
XM_011529768.1:c.458G>T	XP_011528070.1:p.Arg153Leu
XM_011529770.1:c.497G>T	XP_011528072.1:p.Arg166Leu
XR_937576.1:n.676G>T
XM_005261069.4:c.497G>T	XP_005261126.1:p.Arg166Leu
XM_011529766.2:c.497G>T	XP_011528068.1:p.Arg166Leu
XM_011529767.2:c.458G>T	XP_011528069.1:p.Arg153Leu
XM_011529768.2:c.458G>T	XP_011528070.1:p.Arg153Leu
XM_011529770.2:c.497G>T	XP_011528072.1:p.Arg166Leu
XM_017028487.1:c.344G>T	XP_016883976.1:p.Arg115Leu
XR_937576.2:n.723G>T
NM_001001890.3:c.416G>T	NP_001001890.1:p.Arg139Leu
NM_001122607.2:c.416G>T	NP_001116079.1:p.Arg139Leu
NM_001754.5:c.497G>T MANE Select	NP_001745.2:p.Arg166Leu