CAPN1 calpain 1

Information
Symbol
CAPN1
Type
protein-coding
Description
calpain 1
Entrez Gene ID
823
Genome
hg19
Position
chr11:64,949,933-64,979,458
Genome
hg38
Position
chr11:65,182,462-65,211,987
MIM
114220 OMIM
HGNC
HGNC:1476 HGNC
Ensembl
ENSG00000014216 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 66
Likely pathogenic 0 24
Benign 0 68
Likely benign 0 172
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 216
Ranking
ClinVar
0
0
84
442
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 CANP
SYNONYM CANP1
SYNONYM CANPL1
SYNONYM SPG76
SYNONYM muCANP
SYNONYM muCL
MIM 114220 OMIM
HGNC HGNC:1476 HGNC
Ensembl ENSG00000014216 Ensembl
AllianceGenome HGNC:1476
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000533820.5 hg38 chr11 65,181,194 65,212,006 30,813
ENST00000279247.11 hg38 chr11 65,181,928 65,212,006 30,079
ENST00000533129.5 hg38 chr11 65,181,733 65,211,858 30,126
ENST00000524773.5 hg38 chr11 65,181,745 65,212,001 30,257
ENST00000527323.5 hg38 chr11 65,182,462 65,211,987 29,526
ENST00000279247.11 hg19 chr11 64,949,399 64,979,477 30,079
ENST00000527323.5 hg19 chr11 64,949,933 64,979,458 29,526
ENST00000533820.5 hg19 chr11 64,948,665 64,979,477 30,813
ENST00000524773.5 hg19 chr11 64,949,216 64,979,472 30,257
ENST00000533129.5 hg19 chr11 64,949,204 64,979,329 30,126
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