{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1934794086",
  "communityStandardTitle": [
    "NM_052918.5(SORCS1):c.559-77450A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7078098",
        "rs": 7078098
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 107034030,
          "referenceAllele": "T",
          "start": 107034029
        }
      ],
      "hgvs": [
        "NC_000010.11:g.107034030T=",
        "CM000672.2:g.107034030T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 108793788,
          "referenceAllele": "T",
          "start": 108793787
        }
      ],
      "hgvs": [
        "NC_000010.10:g.108793788T=",
        "CM000672.1:g.108793788T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 108783778,
          "referenceAllele": "T",
          "start": 108783777
        }
      ],
      "hgvs": [
        "NC_000010.9:g.108783778T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135679,
          "referenceAllele": "A",
          "start": 135678
        }
      ],
      "hgvs": [
        "NG_029120.1:g.135679A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004270"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "ENST00000263054.11:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263054.5:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263054.11:c.559-77450A="
          },
          "RefSeq": {
            "hgvs": "NM_052918.5:c.559-77450A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263054.5:n.559-77450A="
          },
          "RefSeq": {
            "hgvs": "NP_443150.3:n.559-77450A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 566,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "ENST00000263054.10:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263054.5:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_001013031.2:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001013049.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_001206569.1:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193498.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_001206570.1:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193499.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_001206571.1:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193500.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_001206572.1:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193501.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_052918.4:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_443150.3:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "XM_011539199.1:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537501.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "XM_011539200.1:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537502.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "XM_011539201.1:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537503.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 63,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "XM_011539204.1:c.4-77450A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537506.1:n.4-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "XM_011539206.1:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537508.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 735,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "XM_011539199.3:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537501.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 735,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "XM_011539201.3:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537503.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 735,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "XM_017015614.2:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016871103.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 735,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "XM_017015615.2:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016871104.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 75,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 75,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "XM_017015617.1:c.4-77450A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016871106.1:n.4-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_001013031.3:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001013049.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_001206569.2:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193498.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_001206570.2:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193499.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_001206571.2:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193500.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_001206572.2:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193501.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_052918.5:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_443150.3:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263054.11:c.559-77450A="
          },
          "RefSeq": {
            "hgvs": "NM_052918.5:c.559-77450A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263054.5:n.559-77450A="
          },
          "RefSeq": {
            "hgvs": "NP_443150.3:n.559-77450A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 77449,
          "referenceAllele": "A",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 77450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016697",
      "geneNCBI_id": 114815,
      "geneSymbol": "SORCS1",
      "hgvs": [
        "NM_001387556.1:c.559-77450A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001374485.1:n.559-77450A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS725291"
    }
  ],
  "type": "nucleotide"
}