CAPNS1 calpain small subunit 1

Information
Symbol
CAPNS1
Type
protein-coding
Description
calpain small subunit 1
Entrez Gene ID
826
Genome
hg19
Position
chr19:36,631,029-36,641,254
Genome
hg38
Position
chr19:36,140,127-36,150,352
MIM
114170 OMIM
HGNC
HGNC:1481 HGNC
Ensembl
ENSG00000126247 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely benign 0 4
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
36
4
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 :
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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 CALPAIN4
SYNONYM CANP
SYNONYM CANPS
SYNONYM CAPN4
SYNONYM CDPS
SYNONYM CSS1
SYNONYM PPH6
MIM 114170 OMIM
HGNC HGNC:1481 HGNC
Ensembl ENSG00000126247 Ensembl
AllianceGenome HGNC:1481
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000628306.2 hg38 chr19 36,140,015 36,150,353 10,339
ENST00000246533.8 hg38 chr19 36,140,066 36,150,353 10,288
ENST00000629983.2 hg38 chr19 36,141,012 36,150,353 9,342
ENST00000587718.5 hg38 chr19 36,140,108 36,150,349 10,242
ENST00000588780.5 hg38 chr19 36,140,968 36,149,993 9,026
ENST00000590874.5 hg38 chr19 36,140,123 36,150,001 9,879
ENST00000589146.5 hg38 chr19 36,139,953 36,149,912 9,960
ENST00000588815.5 hg38 chr19 36,140,127 36,150,352 10,226
ENST00000628018.2 hg38 chr19 36,140,015 36,150,353 10,339
ENST00000246533.8 hg19 chr19 36,630,968 36,641,255 10,288
ENST00000587718.5 hg19 chr19 36,631,010 36,641,251 10,242
ENST00000590874.5 hg19 chr19 36,631,025 36,640,903 9,879
ENST00000588815.5 hg19 chr19 36,631,029 36,641,254 10,226
ENST00000589146.5 hg19 chr19 36,630,855 36,640,814 9,960
ENST00000588780.5 hg19 chr19 36,631,870 36,640,895 9,026
ENST00000629983.2 hg19 chr19 36,631,914 36,641,255 9,342
ENST00000628306.2 hg19 chr19 36,630,917 36,641,255 10,339
ENST00000628018.2 hg19 chr19 36,630,917 36,641,255 10,339
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