{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1630834334",
  "communityStandardTitle": [
    "NM_000341.4(SLC3A1):c.1854G= (p.Met618=)",
    "NM_001171613.2(PREPL):c.*921C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/698761",
        "rs": 698761
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 44320435,
          "referenceAllele": "G",
          "start": 44320434
        }
      ],
      "hgvs": [
        "NC_000002.12:g.44320435G=",
        "CM000664.2:g.44320435G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 44547574,
          "referenceAllele": "G",
          "start": 44547573
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44547574G=",
        "CM000664.1:g.44547574G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 44401078,
          "referenceAllele": "G",
          "start": 44401077
        }
      ],
      "hgvs": [
        "NC_000002.10:g.44401078G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49978,
          "referenceAllele": "G",
          "start": 49977
        }
      ],
      "hgvs": [
        "NG_008233.1:g.49978G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46428,
          "referenceAllele": "C",
          "start": 46427
        }
      ],
      "hgvs": [
        "NG_016429.1:g.46428C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003183"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1910,
          "referenceAllele": "G",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011025",
      "geneNCBI_id": 6519,
      "geneSymbol": "SLC3A1",
      "hgvs": [
        "ENST00000260649.11:c.1854G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260649.6:p.Met618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742056",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260649.11:c.1854G="
          },
          "RefSeq": {
            "hgvs": "NM_000341.4:c.1854G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260649.6:p.Met618="
          },
          "RefSeq": {
            "hgvs": "NP_000332.2:p.Met618="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3001,
          "referenceAllele": "C",
          "start": 3000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "ENST00000409411.6:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387095.2:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754296",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409411.6:c.*921C="
          },
          "RefSeq": {
            "hgvs": "NM_001171613.2:c.*921C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387095.2:n.*921C="
          },
          "RefSeq": {
            "hgvs": "NP_001165084.1:n.*921C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1930,
          "referenceAllele": "G",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011025",
      "geneNCBI_id": 6519,
      "geneSymbol": "SLC3A1",
      "hgvs": [
        "ENST00000260649.10:c.1854G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260649.6:p.Met618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2038,
          "referenceAllele": "G",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011025",
      "geneNCBI_id": 6519,
      "geneSymbol": "SLC3A1",
      "hgvs": [
        "ENST00000409380.5:c.1020G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386709.1:p.Met340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3053,
          "referenceAllele": "C",
          "start": 3052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "ENST00000409411.5:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387095.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1055,
          "referenceAllele": "G",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011025",
      "geneNCBI_id": 6519,
      "geneSymbol": "SLC3A1",
      "hgvs": [
        "ENST00000409740.3:c.747G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386677.3:p.Met249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3543,
          "referenceAllele": "C",
          "start": 3542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "ENST00000409936.5:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386543.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3031,
          "referenceAllele": "C",
          "start": 3030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "ENST00000409957.5:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387241.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4064,
          "referenceAllele": "C",
          "start": 4063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "ENST00000425263.5:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391456.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4064,
          "referenceAllele": "C",
          "start": 4063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "ENST00000426481.5:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409480.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "ENST00000444696.5:c.414C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390618.1:n.414C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3225,
          "referenceAllele": "C",
          "start": 3224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "ENST00000541738.5:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439626.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066499712",
      "coordinates": [
        {
          "allele": "G",
          "end": 1932,
          "referenceAllele": "G",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011025",
      "geneNCBI_id": 6519,
      "geneSymbol": "SLC3A1",
      "hgvs": [
        "NM_000341.3:c.1854G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000332.2:p.Met618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2953,
          "referenceAllele": "C",
          "start": 2952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "NM_001042385.2:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035844.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2941,
          "referenceAllele": "C",
          "start": 2940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "NM_001042386.2:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035845.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009666"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3479,
          "referenceAllele": "C",
          "start": 3478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "NM_001171603.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165074.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015330"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3610,
          "referenceAllele": "C",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "NM_001171606.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165077.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3068,
          "referenceAllele": "C",
          "start": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "NM_001171613.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165084.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015334"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3225,
          "referenceAllele": "C",
          "start": 3224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "NM_001171617.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165088.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4064,
          "referenceAllele": "C",
          "start": 4063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "NM_006036.4:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006027.2:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3566,
          "referenceAllele": "C",
          "start": 3565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "XM_011533198.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531500.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3710,
          "referenceAllele": "C",
          "start": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "XM_011533199.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531501.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "XM_011533200.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531502.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3496,
          "referenceAllele": "C",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "XM_011533201.1:c.*994C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531503.1:n.*994C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3018,
          "referenceAllele": "C",
          "start": 3017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "XM_011533202.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531504.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4007,
          "referenceAllele": "G",
          "start": 4006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011025",
      "geneNCBI_id": 6519,
      "geneSymbol": "SLC3A1",
      "hgvs": [
        "XM_011533047.3:c.*2240G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531349.1:n.*2240G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3307,
          "referenceAllele": "C",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "XM_011533198.2:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531500.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4204,
          "referenceAllele": "C",
          "start": 4203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "XM_017005384.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860873.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3529,
          "referenceAllele": "C",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "XM_017005385.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860874.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560663"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066499712",
      "coordinates": [
        {
          "allele": "G",
          "end": 1910,
          "referenceAllele": "G",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011025",
      "geneNCBI_id": 6519,
      "geneSymbol": "SLC3A1",
      "hgvs": [
        "NM_000341.4:c.1854G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000332.2:p.Met618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260649.11:c.1854G="
          },
          "RefSeq": {
            "hgvs": "NM_000341.4:c.1854G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260649.6:p.Met618="
          },
          "RefSeq": {
            "hgvs": "NP_000332.2:p.Met618="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3001,
          "referenceAllele": "C",
          "start": 3000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "NM_001171613.2:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165084.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409411.6:c.*921C="
          },
          "RefSeq": {
            "hgvs": "NM_001171613.2:c.*921C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387095.2:n.*921C="
          },
          "RefSeq": {
            "hgvs": "NP_001165084.1:n.*921C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "NM_001374275.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361204.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3255,
          "referenceAllele": "C",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "NM_001374276.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361205.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2964,
          "referenceAllele": "C",
          "start": 2963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "NM_001374277.1:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361206.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3543,
          "referenceAllele": "C",
          "start": 3542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030228",
      "geneNCBI_id": 9581,
      "geneSymbol": "PREPL",
      "hgvs": [
        "NM_001171606.2:c.*921C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165077.1:n.*921C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713370"
    }
  ],
  "type": "nucleotide"
}