{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA116418",
  "communityStandardTitle": [
    "NM_000229.2(LCAT):c.440C>T (p.Thr147Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18699[alleleid]",
        "alleleId": 18699,
        "preferredName": "NM_000229.2(LCAT):c.440C>T (p.Thr147Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3660",
        "RCV": [
          "RCV000003845",
          "RCV003555908",
          "RCV002504739"
        ],
        "variationId": 3660
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-67976657-G-A",
        "id": "16-67976657-G-A",
        "variant": "16:67976657 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.67976657G>A?assembly=hg19",
        "id": "chr16:g.67976657G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.67942754G>A?assembly=hg38",
        "id": "chr16:g.67942754G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908050",
        "rs": 121908050
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-67976657-G-A?dataset=gnomad_r2_1",
        "id": "16-67976657-G-A",
        "variant": "16:67976657 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-67942754-G-A?dataset=gnomad_r3",
        "id": "16-67942754-G-A",
        "variant": "16:67942754 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-67942754-G-A?dataset=gnomad_r4",
        "id": "16-67942754-G-A",
        "variant": "16:67942754 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 67942754,
          "referenceAllele": "G",
          "start": 67942753
        }
      ],
      "hgvs": [
        "NC_000016.10:g.67942754G>A",
        "CM000678.2:g.67942754G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 67976657,
          "referenceAllele": "G",
          "start": 67976656
        }
      ],
      "hgvs": [
        "NC_000016.9:g.67976657G>A",
        "CM000678.1:g.67976657G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 66534158,
          "referenceAllele": "G",
          "start": 66534157
        }
      ],
      "hgvs": [
        "NC_000016.8:g.66534158G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6359,
          "referenceAllele": "C",
          "start": 6358
        }
      ],
      "hgvs": [
        "NG_009778.1:g.6359C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30941,
          "referenceAllele": "C",
          "start": 30940
        }
      ],
      "hgvs": [
        "NG_033098.1:g.30941C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005425"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006522",
      "geneNCBI_id": 3931,
      "geneSymbol": "LCAT",
      "hgvs": [
        "ENST00000264005.10:c.440C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264005.5:p.Thr147Ile",
        "hgvsWellDefined": "ENSP00000264005.5:p.Thr147Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742598",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264005.10:c.440C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000229.2:c.440C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264005.5:p.Thr147Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000220.1:p.Thr147Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006522",
      "geneNCBI_id": 3931,
      "geneSymbol": "LCAT",
      "hgvs": [
        "ENST00000264005.9:c.440C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264005.5:p.Thr147Ile",
        "hgvsWellDefined": "ENSP00000264005.5:p.Thr147Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 155,
          "endIntronDirection": "+",
          "endIntronOffset": 107,
          "referenceAllele": "C",
          "start": 155,
          "startIntronDirection": "+",
          "startIntronOffset": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006522",
      "geneNCBI_id": 3931,
      "geneSymbol": "LCAT",
      "hgvs": [
        "ENST00000570369.5:c.155+107C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006522",
      "geneNCBI_id": 3931,
      "geneSymbol": "LCAT",
      "hgvs": [
        "ENST00000570980.1:c.224C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464651.1:p.Thr75Ile",
        "hgvsWellDefined": "ENSP00000464651.1:p.Thr75Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006522",
      "geneNCBI_id": 3931,
      "geneSymbol": "LCAT",
      "hgvs": [
        "ENST00000573538.5:c.83C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463220.1:p.Thr28Ile",
        "hgvsWellDefined": "ENSP00000463220.1:p.Thr28Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54,
          "referenceAllele": "C",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006522",
      "geneNCBI_id": 3931,
      "geneSymbol": "LCAT",
      "hgvs": [
        "ENST00000573846.1:n.54C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 218,
          "referenceAllele": "C",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006522",
      "geneNCBI_id": 3931,
      "geneSymbol": "LCAT",
      "hgvs": [
        "ENST00000575277.1:n.218C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006522",
      "geneNCBI_id": 3931,
      "geneSymbol": "LCAT",
      "hgvs": [
        "ENST00000575467.5:c.*135C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460653.1:n.*135C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112715",
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006522",
      "geneNCBI_id": 3931,
      "geneSymbol": "LCAT",
      "hgvs": [
        "NM_000229.1:c.440C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000220.1:p.Thr147Ile",
        "hgvsWellDefined": "NP_000220.1:p.Thr147Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006292"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112715",
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006522",
      "geneNCBI_id": 3931,
      "geneSymbol": "LCAT",
      "hgvs": [
        "NM_000229.2:c.440C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000220.1:p.Thr147Ile",
        "hgvsWellDefined": "NP_000220.1:p.Thr147Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264005.10:c.440C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000229.2:c.440C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264005.5:p.Thr147Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000220.1:p.Thr147Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}