{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2353083636",
  "communityStandardTitle": [
    "NM_001195.5(BFSP1):c.1042G= (p.Asp348=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307126",
        "rs": 1085307126
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 17496938,
          "referenceAllele": "C",
          "start": 17496937
        }
      ],
      "hgvs": [
        "NC_000020.11:g.17496938C=",
        "CM000682.2:g.17496938C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 17477583,
          "referenceAllele": "C",
          "start": 17477582
        }
      ],
      "hgvs": [
        "NC_000020.10:g.17477583C=",
        "CM000682.1:g.17477583C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 17425583,
          "referenceAllele": "C",
          "start": 17425582
        }
      ],
      "hgvs": [
        "NC_000020.9:g.17425583C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 77283,
          "referenceAllele": "G",
          "start": 77282
        }
      ],
      "hgvs": [
        "NG_012423.2:g.77283G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002402"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "ENST00000377873.8:c.1042G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367104.3:p.Asp348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377873.8:c.1042G="
          },
          "RefSeq": {
            "hgvs": "NM_001195.5:c.1042G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367104.3:p.Asp348="
          },
          "RefSeq": {
            "hgvs": "NP_001186.1:p.Asp348="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 951,
          "referenceAllele": "G",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "ENST00000536626.7:c.625G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442522.1:p.Asp209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "ENST00000377868.6:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367099.2:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1082,
          "referenceAllele": "G",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "ENST00000377873.7:c.1042G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367104.3:p.Asp348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271780"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1059,
          "referenceAllele": "G",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "ENST00000536626.5:c.625G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442522.1:p.Asp209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "NM_001161705.1:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001155177.1:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014291"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087951719",
      "coordinates": [
        {
          "allele": "G",
          "end": 1082,
          "referenceAllele": "G",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "NM_001195.4:c.1042G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186.1:p.Asp348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "NM_001278606.1:c.625G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265535.1:p.Asp209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "NM_001278607.1:c.709G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265536.1:p.Asp237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1059,
          "referenceAllele": "G",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "NM_001278608.1:c.625G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265537.1:p.Asp209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "XM_011529312.1:c.625G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527614.1:p.Asp209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1899,
          "referenceAllele": "G",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "XM_017028005.2:c.934G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883494.1:p.Asp312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087951719",
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "NM_001195.5:c.1042G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186.1:p.Asp348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663961",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377873.8:c.1042G="
          },
          "RefSeq": {
            "hgvs": "NM_001195.5:c.1042G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367104.3:p.Asp348="
          },
          "RefSeq": {
            "hgvs": "NP_001186.1:p.Asp348="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "referenceAllele": "G",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "NM_001161705.2:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001155177.1:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "NM_001278606.2:c.625G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265535.1:p.Asp209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 807,
          "referenceAllele": "G",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "NM_001278607.2:c.709G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265536.1:p.Asp237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1059,
          "referenceAllele": "G",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "NM_001278608.2:c.625G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265537.1:p.Asp209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715607"
    }
  ],
  "type": "nucleotide"
}