CPA1 carboxypeptidase A1

Information
Symbol
CPA1
Type
protein-coding
Description
carboxypeptidase A1
Entrez Gene ID
1357
Genome
hg19
Position
chr7:130,020,335-130,027,949
Genome
hg38
Position
chr7:130,380,494-130,388,108
MIM
114850 OMIM
HGNC
HGNC:2296 HGNC
Ensembl
ENSG00000091704 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 0
Likely pathogenic 0 6
Benign 0 72
Likely benign 0 596
Conflicting classifications of pathogenicity 0 44
Uncertain significance 0 932
Ranking
ClinVar
0
0
384
1,192
0
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 :
Search word :
Filtering :
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 CPA
MIM 114850 OMIM
HGNC HGNC:2296 HGNC
Ensembl ENSG00000091704 Ensembl
AllianceGenome HGNC:2296
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000484324.1 hg38 chr7 130,381,093 130,388,114 7,022
ENST00000011292.8 hg38 chr7 130,380,494 130,388,108 7,615
ENST00000011292.8 hg19 chr7 130,020,335 130,027,949 7,615
ENST00000484324.1 hg19 chr7 130,020,934 130,027,955 7,022
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