{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340033",
  "communityStandardTitle": [
    "NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3524491",
        "active": true,
        "id": "COSM3524491"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18006[alleleid]",
        "alleleId": 18006,
        "preferredName": "NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2967",
        "RCV": [
          "RCV000003101",
          "RCV000254672",
          "RCV000587869",
          "RCV000624446",
          "RCV003335012",
          "RCV003964790"
        ],
        "variationId": 2967
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-21116700-A-G",
        "id": "18-21116700-A-G",
        "variant": "18:21116700 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21116700A>G?assembly=hg19",
        "id": "chr18:g.21116700A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23536736A>G?assembly=hg38",
        "id": "chr18:g.23536736A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358259",
        "rs": 80358259
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-21116700-A-G?dataset=gnomad_r2_1",
        "id": "18-21116700-A-G",
        "variant": "18:21116700 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-23536736-A-G?dataset=gnomad_r3",
        "id": "18-23536736-A-G",
        "variant": "18:23536736 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-23536736-A-G?dataset=gnomad_r4",
        "id": "18-23536736-A-G",
        "variant": "18:23536736 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 23536736,
          "referenceAllele": "A",
          "start": 23536735
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23536736A>G",
        "CM000680.2:g.23536736A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 21116700,
          "referenceAllele": "A",
          "start": 21116699
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21116700A>G",
        "CM000680.1:g.21116700A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 19370698,
          "referenceAllele": "A",
          "start": 19370697
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19370698A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54882,
          "referenceAllele": "T",
          "start": 54881
        }
      ],
      "hgvs": [
        "NG_012795.1:g.54882T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002534"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3345,
          "referenceAllele": "T",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.10:c.3182T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Ile1061Thr",
        "hgvsWellDefined": "ENSP00000269228.4:p.Ile1061Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743101",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.3182T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.3182T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Ile1061Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Ile1061Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3737,
          "referenceAllele": "T",
          "start": 3736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.9:c.3182T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Ile1061Thr",
        "hgvsWellDefined": "ENSP00000269228.4:p.Ile1061Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2260,
          "referenceAllele": "T",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591051.1:c.2260T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 525,
          "referenceAllele": "T",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591955.1:n.525T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393238"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102768",
      "coordinates": [
        {
          "allele": "C",
          "end": 3456,
          "referenceAllele": "T",
          "start": 3455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.4:c.3182T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Ile1061Thr",
        "hgvsWellDefined": "NP_000262.2:p.Ile1061Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3396,
          "referenceAllele": "T",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258277.1:c.3233T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258334.1:p.Ile1078Thr",
        "hgvsWellDefined": "XP_005258334.1:p.Ile1078Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3396,
          "referenceAllele": "T",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.3:c.3233T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Ile1078Thr",
        "hgvsWellDefined": "XP_005258335.1:p.Ile1078Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3345,
          "referenceAllele": "T",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.1:c.3182T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Ile1061Thr",
        "hgvsWellDefined": "XP_005258336.1:p.Ile1061Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3396,
          "referenceAllele": "T",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.2:c.3233T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Ile1078Thr",
        "hgvsWellDefined": "XP_006722542.1:p.Ile1078Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3644,
          "referenceAllele": "T",
          "start": 3643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_011526015.1:c.2768T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524317.1:p.Ile923Thr",
        "hgvsWellDefined": "XP_011524317.1:p.Ile923Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3396,
          "referenceAllele": "T",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.5:c.3233T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Ile1078Thr",
        "hgvsWellDefined": "XP_005258335.1:p.Ile1078Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3345,
          "referenceAllele": "T",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.2:c.3182T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Ile1061Thr",
        "hgvsWellDefined": "XP_005258336.1:p.Ile1061Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3396,
          "referenceAllele": "T",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.3:c.3233T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Ile1078Thr",
        "hgvsWellDefined": "XP_006722542.1:p.Ile1078Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3396,
          "referenceAllele": "T",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025784.1:c.3233T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881273.1:p.Ile1078Thr",
        "hgvsWellDefined": "XP_016881273.1:p.Ile1078Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3396,
          "referenceAllele": "T",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025785.1:c.3233T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881274.1:p.Ile1078Thr",
        "hgvsWellDefined": "XP_016881274.1:p.Ile1078Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3345,
          "referenceAllele": "T",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025786.1:c.3182T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881275.1:p.Ile1061Thr",
        "hgvsWellDefined": "XP_016881275.1:p.Ile1061Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3345,
          "referenceAllele": "T",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025787.1:c.3182T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881276.1:p.Ile1061Thr",
        "hgvsWellDefined": "XP_016881276.1:p.Ile1061Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102768",
      "coordinates": [
        {
          "allele": "C",
          "end": 3345,
          "referenceAllele": "T",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.5:c.3182T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Ile1061Thr",
        "hgvsWellDefined": "NP_000262.2:p.Ile1061Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.3182T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.3182T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Ile1061Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Ile1061Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}