TPP1 tripeptidyl peptidase 1

Information
Symbol
TPP1
Type
protein-coding
Description
tripeptidyl peptidase 1
Entrez Gene ID
1200
Genome
hg19
Position
chr11:6,633,999-6,640,653
Genome
hg38
Position
chr11:6,612,768-6,619,422
MIM
607998 OMIM
HGNC
HGNC:2073 HGNC
Ensembl
ENSG00000166340 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 240
Likely pathogenic 2 196
Benign 0 92
Likely benign 0 946
Conflicting classifications of pathogenicity 0 128
not provided 0 8
Uncertain significance 1 794
Ranking
ClinVar
0
0
410
1,720
26
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CLN2
SYNONYM GIG1
SYNONYM LPIC
SYNONYM SCAR7
SYNONYM TPP-1
MIM 607998 OMIM
HGNC HGNC:2073 HGNC
Ensembl ENSG00000166340 Ensembl
AllianceGenome HGNC:2073
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000528657.2 hg38 chr11 6,618,215 6,619,429 1,215
ENST00000533371.6 hg38 chr11 6,612,772 6,619,396 6,625
ENST00000644218.1 hg38 chr11 6,612,786 6,619,429 6,644
ENST00000682424.1 hg38 chr11 6,612,773 6,619,429 6,657
ENST00000644810.1 hg38 chr11 6,612,782 6,619,413 6,632
ENST00000299427.12 hg38 chr11 6,612,768 6,619,422 6,655
ENST00000645620.1 hg38 chr11 6,612,801 6,619,369 6,569
ENST00000647152.1 hg38 chr11 6,612,809 6,619,409 6,601
ENST00000642892.1 hg38 chr11 6,612,784 6,619,353 6,570
ENST00000531754.2 hg38 chr11 6,618,057 6,619,448 1,392
ENST00000299427.12 hg19 chr11 6,633,999 6,640,653 6,655
ENST00000533371.6 hg19 chr11 6,634,003 6,640,627 6,625
ENST00000528657.2 hg19 chr11 6,639,446 6,640,660 1,215
ENST00000531754.2 hg19 chr11 6,639,288 6,640,679 1,392
ENST00000682424.1 hg19 chr11 6,634,004 6,640,660 6,657
ENST00000644810.1 hg19 chr11 6,634,013 6,640,644 6,632
ENST00000642892.1 hg19 chr11 6,634,015 6,640,584 6,570
ENST00000644218.1 hg19 chr11 6,634,017 6,640,660 6,644
ENST00000645620.1 hg19 chr11 6,634,032 6,640,600 6,569
ENST00000647152.1 hg19 chr11 6,634,040 6,640,640 6,601
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