{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118695",
  "communityStandardTitle": [
    "NM_001814.6(CTSC):c.380A>C (p.His127Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22338[alleleid]",
        "alleleId": 22338,
        "preferredName": "NM_001814.6(CTSC):c.380A>C (p.His127Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7299",
        "RCV": [
          "RCV000007722",
          "RCV002512876"
        ],
        "variationId": 7299
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.88045661T>G?assembly=hg19",
        "id": "chr11:g.88045661T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.88312493T>G?assembly=hg38",
        "id": "chr11:g.88312493T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894216",
        "rs": 104894216
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 88312493,
          "referenceAllele": "T",
          "start": 88312492
        }
      ],
      "hgvs": [
        "NC_000011.10:g.88312493T>G",
        "CM000673.2:g.88312493T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 88045661,
          "referenceAllele": "T",
          "start": 88045660
        }
      ],
      "hgvs": [
        "NC_000011.9:g.88045661T>G",
        "CM000673.1:g.88045661T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 87685309,
          "referenceAllele": "T",
          "start": 87685308
        }
      ],
      "hgvs": [
        "NC_000011.8:g.87685309T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30281,
          "referenceAllele": "A",
          "start": 30280
        }
      ],
      "hgvs": [
        "NG_007952.1:g.30281A>C",
        "LRG_50:g.30281A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000227266.10:c.380A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227266.4:p.His127Pro",
        "hgvsWellDefined": "ENSP00000227266.4:p.His127Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740719",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227266.10:c.380A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001814.6:c.380A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227266.4:p.His127Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001805.4:p.His127Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000527018.6:c.380A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432556.2:p.His127Pro",
        "hgvsWellDefined": "ENSP00000432556.2:p.His127Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000533897.2:n.428A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000676612.1:c.*187A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504440.1:n.*187A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 341,
          "endIntronDirection": "-",
          "endIntronOffset": 3174,
          "referenceAllele": "A",
          "start": 341,
          "startIntronDirection": "-",
          "startIntronOffset": 3175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000677208.1:c.319-3175A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504347.1:n.319-3175A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "referenceAllele": "A",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000677661.1:c.*57A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503323.1:n.*57A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 531,
          "referenceAllele": "A",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000677802.1:c.*57A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504115.1:n.*57A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678395.1:c.380A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503123.1:p.His127Pro",
        "hgvsWellDefined": "ENSP00000503123.1:p.His127Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678464.1:c.380A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503046.1:p.His127Pro",
        "hgvsWellDefined": "ENSP00000503046.1:p.His127Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778109"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 480,
          "referenceAllele": "A",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678506.1:c.380A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503580.1:p.His127Pro",
        "hgvsWellDefined": "ENSP00000503580.1:p.His127Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "A",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678520.1:c.*187A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503361.1:n.*187A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "referenceAllele": "A",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678554.1:c.380A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504541.1:p.His127Pro",
        "hgvsWellDefined": "ENSP00000504541.1:p.His127Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "A",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678915.1:c.380A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504805.1:p.His127Pro",
        "hgvsWellDefined": "ENSP00000504805.1:p.His127Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "A",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000679224.1:c.17A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504475.1:p.His6Pro",
        "hgvsWellDefined": "ENSP00000504475.1:p.His6Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000227266.9:c.380A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227266.4:p.His127Pro",
        "hgvsWellDefined": "ENSP00000227266.4:p.His127Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "A",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000527018.5:c.250A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352792"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000533865.5:n.402A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118697",
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "referenceAllele": "A",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001814.4:c.380A>C",
        "LRG_50t1:c.380A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001805.3:p.His127Pro",
        "hgvsWellDefined": "NP_001805.3:p.His127Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118697",
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001814.5:c.380A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001805.3:p.His127Pro",
        "hgvsWellDefined": "NP_001805.3:p.His127Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915970220",
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001814.6:c.380A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001805.4:p.His127Pro",
        "hgvsWellDefined": "NP_001805.4:p.His127Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227266.10:c.380A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001814.6:c.380A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227266.4:p.His127Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001805.4:p.His127Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}