{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410780603",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.742G>C (p.Gly248Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21344765G>C?assembly=hg19",
        "id": "chr22:g.21344765G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20990476G>C?assembly=hg38",
        "id": "chr22:g.20990476G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 20990476,
          "referenceAllele": "G",
          "start": 20990475
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20990476G>C",
        "CM000684.2:g.20990476G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 21344765,
          "referenceAllele": "G",
          "start": 21344764
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21344765G>C",
        "CM000684.1:g.21344765G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 19674765,
          "referenceAllele": "G",
          "start": 19674764
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19674765G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13208,
          "referenceAllele": "G",
          "start": 13207
        }
      ],
      "hgvs": [
        "NG_034193.1:g.13208G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "G",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.742G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:p.Gly248Arg",
        "hgvsWellDefined": "ENSP00000515073.1:p.Gly248Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.573G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.742G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:p.Gly248Arg",
        "hgvsWellDefined": "ENSP00000496779.1:p.Gly248Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.742G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.742G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Gly248Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Gly248Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646506.1:n.321G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.742G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:p.Gly248Arg",
        "hgvsWellDefined": "ENSP00000215739.8:p.Gly248Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000414985.5:c.*308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397247.1:n.*308G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 888,
          "referenceAllele": "G",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.888G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000480895.1:n.438G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000497716.5:n.125G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333887"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645482369",
      "coordinates": [
        {
          "allele": "C",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.742G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Gly248Arg",
        "hgvsWellDefined": "NP_006758.2:p.Gly248Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645482369",
      "coordinates": [
        {
          "allele": "C",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.742G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Gly248Arg",
        "hgvsWellDefined": "NP_006758.2:p.Gly248Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.742G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.742G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Gly248Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Gly248Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}