{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA513457115",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.1260G>A (p.Gln420=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1814121[alleleid]",
        "alleleId": 1814121,
        "preferredName": "NM_006767.4(LZTR1):c.1260G>A (p.Gln420=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1763028",
        "RCV": [
          "RCV002434696",
          "RCV003099916",
          "RCV003471362"
        ],
        "variationId": 1763028
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21347193G>A?assembly=hg19",
        "id": "chr22:g.21347193G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20992904G>A?assembly=hg38",
        "id": "chr22:g.20992904G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1168913250",
        "rs": 1168913250
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-21347193-G-A?dataset=gnomad_r2_1",
        "id": "22-21347193-G-A",
        "variant": "22:21347193 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20992904-G-A?dataset=gnomad_r3",
        "id": "22-20992904-G-A",
        "variant": "22:20992904 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20992904-G-A?dataset=gnomad_r4",
        "id": "22-20992904-G-A",
        "variant": "22:20992904 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 20992904,
          "referenceAllele": "G",
          "start": 20992903
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20992904G>A",
        "CM000684.2:g.20992904G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 21347193,
          "referenceAllele": "G",
          "start": 21347192
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21347193G>A",
        "CM000684.1:g.21347193G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 19677193,
          "referenceAllele": "G",
          "start": 19677192
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19677193G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15636,
          "referenceAllele": "G",
          "start": 15635
        }
      ],
      "hgvs": [
        "NG_034193.1:g.15636G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.1260G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:p.Gln420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000495142.6:n.605G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.1091G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1282,
          "referenceAllele": "G",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643578.1:n.1282G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1335,
          "referenceAllele": "G",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.1260G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:p.Gln420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1260G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1260G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Gln420="
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Gln420="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 839,
          "referenceAllele": "G",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646506.1:n.839G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.1260G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:p.Gln420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1406,
          "referenceAllele": "G",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.1406G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 309,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000492480.1:n.309+7G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829659034",
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.1260G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Gln420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829659034",
      "coordinates": [
        {
          "allele": "A",
          "end": 1335,
          "referenceAllele": "G",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.1260G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Gln420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1260G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1260G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Gln420="
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Gln420="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}