Canonical Allele Identifier: CA658795562

Gene: PBX1

Linked Data

• ClinVar Variation Id: 523091
• ClinVar RCV Id: RCV000626310
• dbSNP Id: rs1553249146
• MyVariant Identifiers: chr1:g.164776860dup (hg19) ; chr1:g.164807623dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.164807623dup , CM000663.2:g.164807623dup	GRCh38
NC_000001.10:g.164776860dup , CM000663.1:g.164776860dup	GRCh37
NC_000001.9:g.163043484dup	NCBI36
NG_028246.1:g.253264dup
NG_028246.2:g.253264dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540236.4:c.468dup	ENSP00000439943.3:p.Ser157GlnfsTer2
ENST00000699845.1:c.783dup	ENSP00000514643.1:p.Ser262GlnfsTer2
ENST00000699846.1:c.468dup	ENSP00000514644.1:p.Ser157GlnfsTer2
ENST00000699847.1:c.468dup	ENSP00000514645.1:p.Ser157GlnfsTer2
ENST00000699848.1:c.341dup
ENST00000420696.7:c.783dup MANE Select	ENSP00000405890.2:p.Ser262GlnfsTer2
ENST00000367897.5:c.783dup	ENSP00000356872.1:p.Ser262GlnfsTer2
ENST00000420696.6:c.783dup	ENSP00000405890.1:p.Ser262GlnfsTer2
ENST00000468104.5:n.913dup
ENST00000496120.6:n.603dup
ENST00000540236.3:c.519dup	ENSP00000439943.2:p.Ser174GlnfsTer2
ENST00000558796.2:n.245-23848dup
ENST00000559240.5:c.783dup	ENSP00000453188.1:p.Ser262GlnfsTer2
ENST00000560469.5:n.739dup
ENST00000560641.5:c.468dup	ENSP00000452727.1:p.Ser157GlnfsTer2
ENST00000612123.3:c.519dup	ENSP00000483563.1:p.Ser174GlnfsTer2
ENST00000627490.2:c.783dup	ENSP00000485692.1:p.Ser262GlnfsTer2
NM_001204961.1:c.783dup	NP_001191890.1:p.Ser262GlnfsTer2
NM_001204963.1:c.783dup	NP_001191892.1:p.Ser262GlnfsTer2
NM_002585.3:c.783dup	NP_002576.1:p.Ser262GlnfsTer2
XM_005245228.2:c.951dup	XP_005245285.1:p.Ser318GlnfsTer2
XM_005245229.2:c.783dup	XP_005245286.1:p.Ser262GlnfsTer2
XM_005245230.2:c.468dup	XP_005245287.1:p.Ser157GlnfsTer2
XM_006711347.2:c.534dup	XP_006711410.2:p.Ser179GlnfsTer2
XM_011509590.1:c.951dup	XP_011507892.1:p.Ser318GlnfsTer2
XM_011509591.1:c.951dup	XP_011507893.1:p.Ser318GlnfsTer2
XM_011509592.1:c.951dup	XP_011507894.1:p.Ser318GlnfsTer2
XM_011509593.1:c.603dup	XP_011507895.1:p.Ser202GlnfsTer2
XM_011509594.1:c.468dup	XP_011507896.1:p.Ser157GlnfsTer2
XM_011509595.1:c.468dup	XP_011507897.1:p.Ser157GlnfsTer2
NM_001353130.1:c.534dup	NP_001340059.1:p.Ser179GlnfsTer2
NM_001353131.1:c.783dup	NP_001340060.1:p.Ser262GlnfsTer2
XM_005245228.3:c.951dup	XP_005245285.1:p.Ser318GlnfsTer2
XM_005245229.3:c.783dup	XP_005245286.1:p.Ser262GlnfsTer2
XM_011509590.2:c.951dup	XP_011507892.1:p.Ser318GlnfsTer2
XM_011509591.2:c.951dup	XP_011507893.1:p.Ser318GlnfsTer2
XM_011509592.2:c.951dup	XP_011507894.1:p.Ser318GlnfsTer2
XM_017001395.2:c.783dup	XP_016856884.1:p.Ser262GlnfsTer2
NM_002585.4:c.783dup MANE Select	NP_002576.1:p.Ser262GlnfsTer2
NM_001204961.2:c.783dup	NP_001191890.1:p.Ser262GlnfsTer2
NM_001204963.2:c.783dup	NP_001191892.1:p.Ser262GlnfsTer2
NM_001353131.2:c.783dup	NP_001340060.1:p.Ser262GlnfsTer2