{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2463394",
  "communityStandardTitle": [
    "NM_012096.3(APPL1):c.69A>G (p.Leu23=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1154533[alleleid]",
        "alleleId": 1154533,
        "preferredName": "NM_012096.3(APPL1):c.69A>G (p.Leu23=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1170466",
        "RCV": [
          "RCV001522865",
          "RCV001803355"
        ],
        "variationId": 1170466
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-57269608-A-G",
        "id": "3-57269608-A-G",
        "variant": "3:57269608 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.57269608A>G?assembly=hg19",
        "id": "chr3:g.57269608A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.57235580A>G?assembly=hg38",
        "id": "chr3:g.57235580A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11544592",
        "rs": 11544592
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-57269608-A-G?dataset=gnomad_r2_1",
        "id": "3-57269608-A-G",
        "variant": "3:57269608 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-57235580-A-G?dataset=gnomad_r3",
        "id": "3-57235580-A-G",
        "variant": "3:57235580 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-57235580-A-G?dataset=gnomad_r4",
        "id": "3-57235580-A-G",
        "variant": "3:57235580 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 57235580,
          "referenceAllele": "A",
          "start": 57235579
        }
      ],
      "hgvs": [
        "NC_000003.12:g.57235580A>G",
        "CM000665.2:g.57235580A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 57269608,
          "referenceAllele": "A",
          "start": 57269607
        }
      ],
      "hgvs": [
        "NC_000003.11:g.57269608A>G",
        "CM000665.1:g.57269608A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 57244648,
          "referenceAllele": "A",
          "start": 57244647
        }
      ],
      "hgvs": [
        "NC_000003.10:g.57244648A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12844,
          "referenceAllele": "A",
          "start": 12843
        }
      ],
      "hgvs": [
        "NG_047003.1:g.12844A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616538"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 224,
          "referenceAllele": "A",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024035",
      "geneNCBI_id": 26060,
      "geneSymbol": "APPL1",
      "hgvs": [
        "ENST00000288266.8:c.69A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288266.3:p.Leu23="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743944",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288266.8:c.69A>G"
          },
          "RefSeq": {
            "hgvs": "NM_012096.3:c.69A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288266.3:p.Leu23="
          },
          "RefSeq": {
            "hgvs": "NP_036228.1:p.Leu23="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 227,
          "referenceAllele": "A",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024035",
      "geneNCBI_id": 26060,
      "geneSymbol": "APPL1",
      "hgvs": [
        "ENST00000650354.1:c.69A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498115.1:p.Leu23="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "referenceAllele": "A",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024035",
      "geneNCBI_id": 26060,
      "geneSymbol": "APPL1",
      "hgvs": [
        "ENST00000288266.7:c.69A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288266.3:p.Leu23="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "referenceAllele": "A",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024035",
      "geneNCBI_id": 26060,
      "geneSymbol": "APPL1",
      "hgvs": [
        "ENST00000444459.1:c.18A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406095.1:p.Leu6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024035",
      "geneNCBI_id": 26060,
      "geneSymbol": "APPL1",
      "hgvs": [
        "ENST00000468342.1:n.114A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311276"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 164,
          "referenceAllele": "A",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024035",
      "geneNCBI_id": 26060,
      "geneSymbol": "APPL1",
      "hgvs": [
        "ENST00000482800.5:n.164A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 122,
          "referenceAllele": "A",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024035",
      "geneNCBI_id": 26060,
      "geneSymbol": "APPL1",
      "hgvs": [
        "ENST00000495803.5:c.69A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419644.1:p.Leu23="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829720734",
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "referenceAllele": "A",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024035",
      "geneNCBI_id": 26060,
      "geneSymbol": "APPL1",
      "hgvs": [
        "NM_012096.2:c.69A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036228.1:p.Leu23="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024035",
      "geneNCBI_id": 26060,
      "geneSymbol": "APPL1",
      "hgvs": [
        "XM_011533583.1:c.18A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531885.1:p.Leu6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "A",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024035",
      "geneNCBI_id": 26060,
      "geneSymbol": "APPL1",
      "hgvs": [
        "XM_011533583.3:c.18A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531885.1:p.Leu6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829720734",
      "coordinates": [
        {
          "allele": "G",
          "end": 224,
          "referenceAllele": "A",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024035",
      "geneNCBI_id": 26060,
      "geneSymbol": "APPL1",
      "hgvs": [
        "NM_012096.3:c.69A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036228.1:p.Leu23="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288266.8:c.69A>G"
          },
          "RefSeq": {
            "hgvs": "NM_012096.3:c.69A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288266.3:p.Leu23="
          },
          "RefSeq": {
            "hgvs": "NP_036228.1:p.Leu23="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}