{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10119459",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1032428",
        "active": true,
        "id": "COSM1032428"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1014493[alleleid]",
        "alleleId": 1014493,
        "preferredName": "NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1021020",
        "RCV": [
          "RCV001320703",
          "RCV002271641",
          "RCV002447356",
          "RCV003447589",
          "RCV004545200"
        ],
        "variationId": 1021020
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-21351542-C-T",
        "id": "22-21351542-C-T",
        "variant": "22:21351542 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21351542C>T?assembly=hg19",
        "id": "chr22:g.21351542C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20997253C>T?assembly=hg38",
        "id": "chr22:g.20997253C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776893978",
        "rs": 776893978
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-21351542-C-T?dataset=gnomad_r2_1",
        "id": "22-21351542-C-T",
        "variant": "22:21351542 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20997253-C-T?dataset=gnomad_r3",
        "id": "22-20997253-C-T",
        "variant": "22:20997253 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20997253-C-T?dataset=gnomad_r4",
        "id": "22-20997253-C-T",
        "variant": "22:20997253 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 20997253,
          "referenceAllele": "C",
          "start": 20997252
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20997253C>T",
        "CM000684.2:g.20997253C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 21351542,
          "referenceAllele": "C",
          "start": 21351541
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21351542C>T",
        "CM000684.1:g.21351542C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 19681542,
          "referenceAllele": "C",
          "start": 19681541
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19681542C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19985,
          "referenceAllele": "C",
          "start": 19984
        }
      ],
      "hgvs": [
        "NG_034193.1:g.19985C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2429,
          "referenceAllele": "C",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.2347C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:p.Arg783Trp",
        "hgvsWellDefined": "ENSP00000515073.1:p.Arg783Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 857,
          "referenceAllele": "C",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000415817.2:c.857C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS754621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2780,
          "referenceAllele": "C",
          "start": 2779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000495142.6:n.2780C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2259,
          "referenceAllele": "C",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.2259C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2450,
          "referenceAllele": "C",
          "start": 2449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643578.1:n.2450C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643710.1:n.1289C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2503,
          "referenceAllele": "C",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.2428C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:p.Arg810Trp",
        "hgvsWellDefined": "ENSP00000496779.1:p.Arg810Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.2428C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.2428C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Arg810Trp"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Arg810Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2295,
          "referenceAllele": "C",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646506.1:n.2295C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2787,
          "referenceAllele": "C",
          "start": 2786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.2428C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:p.Arg810Trp",
        "hgvsWellDefined": "ENSP00000215739.8:p.Arg810Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000415817.1:c.591C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000452988.5:c.590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408789.1:n.590C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1726,
          "referenceAllele": "C",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000463909.1:n.1726C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2574,
          "referenceAllele": "C",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.2574C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 528,
          "referenceAllele": "C",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000498649.1:n.528C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499274809",
      "coordinates": [
        {
          "allele": "T",
          "end": 2531,
          "referenceAllele": "C",
          "start": 2530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.2428C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Arg810Trp",
        "hgvsWellDefined": "NP_006758.2:p.Arg810Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499274809",
      "coordinates": [
        {
          "allele": "T",
          "end": 2503,
          "referenceAllele": "C",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.2428C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Arg810Trp",
        "hgvsWellDefined": "NP_006758.2:p.Arg810Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.2428C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.2428C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Arg810Trp"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Arg810Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}