{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA150704",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3972870",
        "active": true,
        "id": "COSM3972870"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106803[alleleid]",
        "alleleId": 106803,
        "preferredName": "NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/101038",
        "RCV": [
          "RCV000087296",
          "RCV001312780",
          "RCV001260384",
          "RCV001813376",
          "RCV002390252"
        ],
        "variationId": 101038
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-21348256-G-A",
        "id": "22-21348256-G-A",
        "variant": "22:21348256 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21348256G>A?assembly=hg19",
        "id": "chr22:g.21348256G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20993967G>A?assembly=hg38",
        "id": "chr22:g.20993967G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777180",
        "rs": 587777180
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-21348256-G-A?dataset=gnomad_r2_1",
        "id": "22-21348256-G-A",
        "variant": "22:21348256 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20993967-G-A?dataset=gnomad_r3",
        "id": "22-20993967-G-A",
        "variant": "22:20993967 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20993967-G-A?dataset=gnomad_r4",
        "id": "22-20993967-G-A",
        "variant": "22:20993967 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 20993967,
          "referenceAllele": "G",
          "start": 20993966
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20993967G>A",
        "CM000684.2:g.20993967G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 21348256,
          "referenceAllele": "G",
          "start": 21348255
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21348256G>A",
        "CM000684.1:g.21348256G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 19678256,
          "referenceAllele": "G",
          "start": 19678255
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19678256G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16699,
          "referenceAllele": "G",
          "start": 16698
        }
      ],
      "hgvs": [
        "NG_034193.1:g.16699G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "referenceAllele": "G",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.1397G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:p.Arg466Gln",
        "hgvsWellDefined": "ENSP00000515073.1:p.Arg466Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 742,
          "referenceAllele": "G",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000495142.6:n.742G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.1228G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643578.1:n.1419G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643710.1:n.258G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.1397G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:p.Arg466Gln",
        "hgvsWellDefined": "ENSP00000496779.1:p.Arg466Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1397G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1397G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Arg466Gln"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Arg466Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 976,
          "referenceAllele": "G",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646506.1:n.976G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1756,
          "referenceAllele": "G",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.1397G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:p.Arg466Gln",
        "hgvsWellDefined": "ENSP00000215739.8:p.Arg466Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1543,
          "referenceAllele": "G",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.1543G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000492480.1:n.446G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110863",
      "coordinates": [
        {
          "allele": "A",
          "end": 1500,
          "referenceAllele": "G",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.1397G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Arg466Gln",
        "hgvsWellDefined": "NP_006758.2:p.Arg466Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110863",
      "coordinates": [
        {
          "allele": "A",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.1397G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Arg466Gln",
        "hgvsWellDefined": "NP_006758.2:p.Arg466Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1397G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1397G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Arg466Gln"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Arg466Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}