{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13400148",
  "communityStandardTitle": [
    "NM_003105.6(SORL1):c.*1483G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.121501755G>A?assembly=hg19",
        "id": "chr11:g.121501755G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.121631046G>A?assembly=hg38",
        "id": "chr11:g.121631046G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1133174",
        "rs": 1133174
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-121501755-G-A?dataset=gnomad_r2_1",
        "id": "11-121501755-G-A",
        "variant": "11:121501755 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-121631046-G-A?dataset=gnomad_r3",
        "id": "11-121631046-G-A",
        "variant": "11:121631046 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-121631046-G-A?dataset=gnomad_r4",
        "id": "11-121631046-G-A",
        "variant": "11:121631046 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 121631046,
          "referenceAllele": "G",
          "start": 121631045
        }
      ],
      "hgvs": [
        "NC_000011.10:g.121631046G>A",
        "CM000673.2:g.121631046G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 121501755,
          "referenceAllele": "G",
          "start": 121501754
        }
      ],
      "hgvs": [
        "NC_000011.9:g.121501755G>A",
        "CM000673.1:g.121501755G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 121006965,
          "referenceAllele": "G",
          "start": 121006964
        }
      ],
      "hgvs": [
        "NC_000011.8:g.121006965G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 183795,
          "referenceAllele": "G",
          "start": 183794
        }
      ],
      "hgvs": [
        "NG_023313.1:g.183795G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003790"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8146,
          "referenceAllele": "G",
          "start": 8145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "ENST00000260197.12:c.*1483G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260197.6:n.*1483G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260197.12:c.*1483G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003105.6:c.*1483G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260197.6:n.*1483G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003096.2:n.*1483G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8257,
          "referenceAllele": "G",
          "start": 8256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "ENST00000260197.11:c.*1483G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260197.6:n.*1483G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 758,
          "endIntronDirection": "-",
          "endIntronOffset": 969,
          "referenceAllele": "G",
          "start": 758,
          "startIntronDirection": "-",
          "startIntronOffset": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "ENST00000530365.1:n.759-970G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8257,
          "referenceAllele": "G",
          "start": 8256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "NM_003105.5:c.*1483G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003096.1:n.*1483G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8018,
          "referenceAllele": "G",
          "start": 8017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_011542963.1:c.*1483G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541265.1:n.*1483G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7166,
          "referenceAllele": "G",
          "start": 7165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_011542965.1:c.*1483G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541267.1:n.*1483G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5584,
          "referenceAllele": "G",
          "start": 5583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_011542966.1:c.*1483G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541268.1:n.*1483G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5198,
          "referenceAllele": "G",
          "start": 5197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_011542967.1:c.*1483G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541269.1:n.*1483G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7298,
          "referenceAllele": "G",
          "start": 7297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_011542965.3:c.*1483G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541267.1:n.*1483G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5198,
          "referenceAllele": "G",
          "start": 5197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_011542967.3:c.*1483G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541269.1:n.*1483G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6129,
          "referenceAllele": "G",
          "start": 6128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_017018172.2:c.*1483G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873661.1:n.*1483G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8146,
          "referenceAllele": "G",
          "start": 8145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "NM_003105.6:c.*1483G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003096.2:n.*1483G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665880",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260197.12:c.*1483G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003105.6:c.*1483G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260197.6:n.*1483G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003096.2:n.*1483G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}