{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA204878",
  "communityStandardTitle": [
    "NM_018206.6(VPS35):c.1463A>G (p.Gln488Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205292[alleleid]",
        "alleleId": 205292,
        "preferredName": "NM_018206.6(VPS35):c.1463A>G (p.Gln488Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208774",
        "RCV": [
          "RCV000190799"
        ],
        "variationId": 208774
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.46705678T>C?assembly=hg19",
        "id": "chr16:g.46705678T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.46671766T>C?assembly=hg38",
        "id": "chr16:g.46671766T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797044948",
        "rs": 797044948
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 46671766,
          "referenceAllele": "T",
          "start": 46671765
        }
      ],
      "hgvs": [
        "NC_000016.10:g.46671766T>C",
        "CM000678.2:g.46671766T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 46705678,
          "referenceAllele": "T",
          "start": 46705677
        }
      ],
      "hgvs": [
        "NC_000016.9:g.46705678T>C",
        "CM000678.1:g.46705678T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 45263179,
          "referenceAllele": "T",
          "start": 45263178
        }
      ],
      "hgvs": [
        "NC_000016.8:g.45263179T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22467,
          "referenceAllele": "A",
          "start": 22466
        }
      ],
      "hgvs": [
        "NG_029970.1:g.22467A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004821"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1508,
          "referenceAllele": "A",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013487",
      "geneNCBI_id": 55737,
      "geneSymbol": "VPS35",
      "hgvs": [
        "ENST00000299138.12:c.1463A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299138.7:p.Gln488Arg",
        "hgvsWellDefined": "ENSP00000299138.7:p.Gln488Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744642",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299138.12:c.1463A>G"
          },
          "RefSeq": {
            "hgvs": "NM_018206.6:c.1463A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299138.7:p.Gln488Arg"
          },
          "RefSeq": {
            "hgvs": "NP_060676.2:p.Gln488Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1731,
          "referenceAllele": "A",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013487",
      "geneNCBI_id": 55737,
      "geneSymbol": "VPS35",
      "hgvs": [
        "ENST00000647959.1:c.*1526A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497702.1:n.*1526A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1522,
          "referenceAllele": "A",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013487",
      "geneNCBI_id": 55737,
      "geneSymbol": "VPS35",
      "hgvs": [
        "ENST00000299138.11:c.1463A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299138.7:p.Gln488Arg",
        "hgvsWellDefined": "ENSP00000299138.7:p.Gln488Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2294,
          "referenceAllele": "A",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013487",
      "geneNCBI_id": 55737,
      "geneSymbol": "VPS35",
      "hgvs": [
        "ENST00000568784.6:c.*2133A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456274.2:n.*2133A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204879",
      "coordinates": [
        {
          "allele": "G",
          "end": 1562,
          "referenceAllele": "A",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013487",
      "geneNCBI_id": 55737,
      "geneSymbol": "VPS35",
      "hgvs": [
        "NM_018206.4:c.1463A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060676.2:p.Gln488Arg",
        "hgvsWellDefined": "NP_060676.2:p.Gln488Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1447,
          "referenceAllele": "A",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013487",
      "geneNCBI_id": 55737,
      "geneSymbol": "VPS35",
      "hgvs": [
        "XM_005256045.2:c.1262A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256102.1:p.Gln421Arg",
        "hgvsWellDefined": "XP_005256102.1:p.Gln421Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2255,
          "referenceAllele": "A",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013487",
      "geneNCBI_id": 55737,
      "geneSymbol": "VPS35",
      "hgvs": [
        "XM_011523227.1:c.1376A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521529.1:p.Gln459Arg",
        "hgvsWellDefined": "XP_011521529.1:p.Gln459Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090366"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204879",
      "coordinates": [
        {
          "allele": "G",
          "end": 1562,
          "referenceAllele": "A",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013487",
      "geneNCBI_id": 55737,
      "geneSymbol": "VPS35",
      "hgvs": [
        "NM_018206.5:c.1463A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060676.2:p.Gln488Arg",
        "hgvsWellDefined": "NP_060676.2:p.Gln488Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1447,
          "referenceAllele": "A",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013487",
      "geneNCBI_id": 55737,
      "geneSymbol": "VPS35",
      "hgvs": [
        "XM_005256045.3:c.1262A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256102.1:p.Gln421Arg",
        "hgvsWellDefined": "XP_005256102.1:p.Gln421Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2291,
          "referenceAllele": "A",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013487",
      "geneNCBI_id": 55737,
      "geneSymbol": "VPS35",
      "hgvs": [
        "XM_011523227.3:c.1376A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521529.1:p.Gln459Arg",
        "hgvsWellDefined": "XP_011521529.1:p.Gln459Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204879",
      "coordinates": [
        {
          "allele": "G",
          "end": 1508,
          "referenceAllele": "A",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013487",
      "geneNCBI_id": 55737,
      "geneSymbol": "VPS35",
      "hgvs": [
        "NM_018206.6:c.1463A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060676.2:p.Gln488Arg",
        "hgvsWellDefined": "NP_060676.2:p.Gln488Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299138.12:c.1463A>G"
          },
          "RefSeq": {
            "hgvs": "NM_018206.6:c.1463A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299138.7:p.Gln488Arg"
          },
          "RefSeq": {
            "hgvs": "NP_060676.2:p.Gln488Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}