{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10119018",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.1665G>A (p.Leu555=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=786557[alleleid]",
        "alleleId": 786557,
        "preferredName": "NM_006767.4(LZTR1):c.1665G>A (p.Leu555=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/792793",
        "RCV": [
          "RCV000975934"
        ],
        "variationId": 792793
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-21348896-G-A",
        "id": "22-21348896-G-A",
        "variant": "22:21348896 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21348896G>A?assembly=hg19",
        "id": "chr22:g.21348896G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20994607G>A?assembly=hg38",
        "id": "chr22:g.20994607G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760948342",
        "rs": 760948342
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-21348896-G-A?dataset=gnomad_r2_1",
        "id": "22-21348896-G-A",
        "variant": "22:21348896 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20994607-G-A?dataset=gnomad_r3",
        "id": "22-20994607-G-A",
        "variant": "22:20994607 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20994607-G-A?dataset=gnomad_r4",
        "id": "22-20994607-G-A",
        "variant": "22:20994607 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 20994607,
          "referenceAllele": "G",
          "start": 20994606
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20994607G>A",
        "CM000684.2:g.20994607G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 21348896,
          "referenceAllele": "G",
          "start": 21348895
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21348896G>A",
        "CM000684.1:g.21348896G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 19678896,
          "referenceAllele": "G",
          "start": 19678895
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19678896G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17339,
          "referenceAllele": "G",
          "start": 17338
        }
      ],
      "hgvs": [
        "NG_034193.1:g.17339G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.1665G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:p.Leu555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22,
          "referenceAllele": "G",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000415817.2:c.22G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS754621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000495142.6:n.1298G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.1496G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643578.1:n.1687G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643710.1:n.526G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1740,
          "referenceAllele": "G",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.1665G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:p.Leu555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1665G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1665G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Leu555="
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Leu555="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646506.1:n.1532G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "G",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.1665G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:p.Leu555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "G",
          "start": 43,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000415354.6:c.44-67G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393765.2:n.44-67G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1811,
          "referenceAllele": "G",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.1811G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 131,
          "referenceAllele": "G",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000491432.5:n.131G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 281,
          "referenceAllele": "G",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000495142.5:n.281G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829659246",
      "coordinates": [
        {
          "allele": "A",
          "end": 1768,
          "referenceAllele": "G",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.1665G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Leu555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829659246",
      "coordinates": [
        {
          "allele": "A",
          "end": 1740,
          "referenceAllele": "G",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.1665G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Leu555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1665G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1665G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Leu555="
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Leu555="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}