{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401791941",
  "communityStandardTitle": [
    "NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1978400[alleleid]",
        "alleleId": 1978400,
        "preferredName": "NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1918189",
        "RCV": [
          "RCV002617205",
          "RCV004526937"
        ],
        "variationId": 1918189
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21116782C>G?assembly=hg19",
        "id": "chr18:g.21116782C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23536818C>G?assembly=hg38",
        "id": "chr18:g.23536818C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2058637844",
        "rs": 2058637844
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 23536818,
          "referenceAllele": "C",
          "start": 23536817
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23536818C>G",
        "CM000680.2:g.23536818C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 21116782,
          "referenceAllele": "C",
          "start": 21116781
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21116782C>G",
        "CM000680.1:g.21116782C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 19370780,
          "referenceAllele": "C",
          "start": 19370779
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19370780C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54800,
          "referenceAllele": "G",
          "start": 54799
        }
      ],
      "hgvs": [
        "NG_012795.1:g.54800G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002534"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3263,
          "referenceAllele": "G",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.10:c.3100G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Gly1034Arg",
        "hgvsWellDefined": "ENSP00000269228.4:p.Gly1034Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743101",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.3100G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.3100G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Gly1034Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Gly1034Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3655,
          "referenceAllele": "G",
          "start": 3654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.9:c.3100G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Gly1034Arg",
        "hgvsWellDefined": "ENSP00000269228.4:p.Gly1034Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2178,
          "referenceAllele": "G",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591051.1:c.2178G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591075.1:n.733G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591955.1:n.443G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393238"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102610",
      "coordinates": [
        {
          "allele": "C",
          "end": 3374,
          "referenceAllele": "G",
          "start": 3373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.4:c.3100G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Gly1034Arg",
        "hgvsWellDefined": "NP_000262.2:p.Gly1034Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3314,
          "referenceAllele": "G",
          "start": 3313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258277.1:c.3151G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258334.1:p.Gly1051Arg",
        "hgvsWellDefined": "XP_005258334.1:p.Gly1051Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3314,
          "referenceAllele": "G",
          "start": 3313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.3:c.3151G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Gly1051Arg",
        "hgvsWellDefined": "XP_005258335.1:p.Gly1051Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3263,
          "referenceAllele": "G",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.1:c.3100G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Gly1034Arg",
        "hgvsWellDefined": "XP_005258336.1:p.Gly1034Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3314,
          "referenceAllele": "G",
          "start": 3313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.2:c.3151G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Gly1051Arg",
        "hgvsWellDefined": "XP_006722542.1:p.Gly1051Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3562,
          "referenceAllele": "G",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_011526015.1:c.2686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524317.1:p.Gly896Arg",
        "hgvsWellDefined": "XP_011524317.1:p.Gly896Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3314,
          "referenceAllele": "G",
          "start": 3313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.5:c.3151G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Gly1051Arg",
        "hgvsWellDefined": "XP_005258335.1:p.Gly1051Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3263,
          "referenceAllele": "G",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.2:c.3100G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Gly1034Arg",
        "hgvsWellDefined": "XP_005258336.1:p.Gly1034Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3314,
          "referenceAllele": "G",
          "start": 3313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.3:c.3151G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Gly1051Arg",
        "hgvsWellDefined": "XP_006722542.1:p.Gly1051Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3314,
          "referenceAllele": "G",
          "start": 3313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025784.1:c.3151G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881273.1:p.Gly1051Arg",
        "hgvsWellDefined": "XP_016881273.1:p.Gly1051Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3314,
          "referenceAllele": "G",
          "start": 3313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025785.1:c.3151G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881274.1:p.Gly1051Arg",
        "hgvsWellDefined": "XP_016881274.1:p.Gly1051Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3263,
          "referenceAllele": "G",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025786.1:c.3100G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881275.1:p.Gly1034Arg",
        "hgvsWellDefined": "XP_016881275.1:p.Gly1034Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3263,
          "referenceAllele": "G",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025787.1:c.3100G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881276.1:p.Gly1034Arg",
        "hgvsWellDefined": "XP_016881276.1:p.Gly1034Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102610",
      "coordinates": [
        {
          "allele": "C",
          "end": 3263,
          "referenceAllele": "G",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.5:c.3100G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Gly1034Arg",
        "hgvsWellDefined": "NP_000262.2:p.Gly1034Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.3100G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.3100G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Gly1034Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Gly1034Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}