{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2109620",
  "communityStandardTitle": [
    "NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274559[alleleid]",
        "alleleId": 274559,
        "preferredName": "NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290322",
        "RCV": [
          "RCV000273790",
          "RCV000313563",
          "RCV000370613",
          "RCV000376147"
        ],
        "variationId": 290322
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-219525911-C-T",
        "id": "2-219525911-C-T",
        "variant": "2:219525911 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219525911C>T?assembly=hg19",
        "id": "chr2:g.219525911C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218661188C>T?assembly=hg38",
        "id": "chr2:g.218661188C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142540289",
        "rs": 142540289
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219525911-C-T?dataset=gnomad_r2_1",
        "id": "2-219525911-C-T",
        "variant": "2:219525911 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218661188-C-T?dataset=gnomad_r3",
        "id": "2-218661188-C-T",
        "variant": "2:218661188 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218661188-C-T?dataset=gnomad_r4",
        "id": "2-218661188-C-T",
        "variant": "2:218661188 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 218661188,
          "referenceAllele": "C",
          "start": 218661187
        }
      ],
      "hgvs": [
        "NC_000002.12:g.218661188C>T",
        "CM000664.2:g.218661188C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219525911,
          "referenceAllele": "C",
          "start": 219525910
        }
      ],
      "hgvs": [
        "NC_000002.11:g.219525911C>T",
        "CM000664.1:g.219525911C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219234155,
          "referenceAllele": "C",
          "start": 219234154
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219234155C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6533,
          "referenceAllele": "C",
          "start": 6532
        }
      ],
      "hgvs": [
        "NG_008018.1:g.6533C>T",
        "LRG_539:g.6533C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3353,
          "referenceAllele": "G",
          "start": 3352
        }
      ],
      "hgvs": [
        "NG_033099.1:g.3353G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005426"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 311,
          "referenceAllele": "C",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000359273.8:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352219.3:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749177",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359273.8:c.201C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001079866.2:c.201C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352219.3:p.Leu67="
          },
          "RefSeq": {
            "hgvs": "NP_001073335.1:p.Leu67="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000392111.7:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375959.2:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000643945.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496514.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "referenceAllele": "C",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000359273.7:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352219.3:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000392109.5:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375957.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000392110.6:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375958.2:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000392111.6:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375959.2:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 314,
          "referenceAllele": "C",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000412366.5:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406494.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000423377.5:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397293.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000428880.5:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391007.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000430322.5:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398957.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000431802.5:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413908.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000439945.5:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404999.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "endIntronDirection": "-",
          "endIntronOffset": 217,
          "referenceAllele": "C",
          "start": 88,
          "startIntronDirection": "-",
          "startIntronOffset": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000443791.5:c.-40-218C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412729.1:n.-40-218C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000456050.5:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395440.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000471576.5:n.125C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "C",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000493376.1:n.322C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330537"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825459084",
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "referenceAllele": "C",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001079866.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073335.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826439895",
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257342.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244271.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826440733",
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257343.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244272.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826441352",
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257344.1:c.201C>T",
        "LRG_539t2:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244273.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829531035",
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_004328.4:c.201C>T",
        "LRG_539t1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004319.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_005246747.3:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246804.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7,
          "referenceAllele": "C",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_005246748.1:c.-276C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246805.1:n.-276C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 80,
          "endIntronDirection": "-",
          "endIntronOffset": 570,
          "referenceAllele": "C",
          "start": 80,
          "startIntronDirection": "-",
          "startIntronOffset": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_005246749.3:c.-41-571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246806.1:n.-41-571C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_006712678.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712741.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_011511587.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509889.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "endIntronDirection": "-",
          "endIntronOffset": 217,
          "referenceAllele": "C",
          "start": 83,
          "startIntronDirection": "-",
          "startIntronOffset": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_011511588.1:c.-40-218C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509890.1:n.-40-218C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XR_427105.1:n.1143C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "endIntronDirection": "-",
          "endIntronOffset": 217,
          "referenceAllele": "C",
          "start": 88,
          "startIntronDirection": "-",
          "startIntronOffset": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001318836.1:c.-40-218C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305765.1:n.-40-218C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513071"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827054545",
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001320717.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307646.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_005246748.3:c.-276C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246805.1:n.-276C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_017004631.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860120.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_017004632.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860121.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_017004633.2:c.-276C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860122.1:n.-276C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_017004634.2:c.-276C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860123.1:n.-276C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XR_427105.3:n.1213C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825459084",
      "coordinates": [
        {
          "allele": "T",
          "end": 311,
          "referenceAllele": "C",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001079866.2:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073335.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676231",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359273.8:c.201C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001079866.2:c.201C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352219.3:p.Leu67="
          },
          "RefSeq": {
            "hgvs": "NP_001073335.1:p.Leu67="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826439895",
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257342.2:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244271.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826440733",
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257343.2:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244272.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826441352",
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257344.2:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244273.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 217,
          "referenceAllele": "C",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001318836.2:c.-40-218C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305765.1:n.-40-218C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827054545",
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001320717.2:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307646.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828487688",
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371443.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358372.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692910"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828487996",
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371444.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358373.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488306",
      "coordinates": [
        {
          "allele": "T",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371446.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358375.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488614",
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371447.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358376.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488922",
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371448.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358377.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828489230",
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371449.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358378.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828489538",
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371450.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358379.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "endIntronDirection": "-",
          "endIntronOffset": 217,
          "referenceAllele": "C",
          "start": 1066,
          "startIntronDirection": "-",
          "startIntronOffset": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371451.1:c.-40-218C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358380.1:n.-40-218C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 570,
          "referenceAllele": "C",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371452.1:c.-41-571C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358381.1:n.-41-571C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371453.1:c.-276C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358382.1:n.-276C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371454.1:c.-276C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358383.1:n.-276C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692921"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 311,
          "referenceAllele": "C",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371455.1:c.-276C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358384.1:n.-276C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371456.1:c.-276C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358385.1:n.-276C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828472709",
      "coordinates": [
        {
          "allele": "T",
          "end": 1506,
          "referenceAllele": "C",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001374085.1:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361014.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1506,
          "referenceAllele": "C",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001374086.1:c.-276C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361015.1:n.-276C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829531035",
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_004328.5:c.201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004319.1:p.Leu67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NR_163955.1:n.1213C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705640"
    }
  ],
  "type": "nucleotide"
}