{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10119172",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1451417[alleleid]",
        "alleleId": 1451417,
        "preferredName": "NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1453892",
        "RCV": [
          "RCV001941602",
          "RCV003471148"
        ],
        "variationId": 1453892
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-21350049-C-T",
        "id": "22-21350049-C-T",
        "variant": "22:21350049 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21350049C>T?assembly=hg19",
        "id": "chr22:g.21350049C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20995760C>T?assembly=hg38",
        "id": "chr22:g.20995760C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760312637",
        "rs": 760312637
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-21350049-C-T?dataset=gnomad_r2_1",
        "id": "22-21350049-C-T",
        "variant": "22:21350049 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20995760-C-T?dataset=gnomad_r4",
        "id": "22-20995760-C-T",
        "variant": "22:20995760 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 20995760,
          "referenceAllele": "C",
          "start": 20995759
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20995760C>T",
        "CM000684.2:g.20995760C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 21350049,
          "referenceAllele": "C",
          "start": 21350048
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21350049C>T",
        "CM000684.1:g.21350049C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 19680049,
          "referenceAllele": "C",
          "start": 19680048
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19680049C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18492,
          "referenceAllele": "C",
          "start": 18491
        }
      ],
      "hgvs": [
        "NG_034193.1:g.18492C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2039,
          "referenceAllele": "C",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.1957C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:p.Gln653Ter",
        "hgvsWellDefined": "ENSP00000515073.1:p.Gln653_Ile813delinsAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000415817.2:c.386C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS754621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2309,
          "referenceAllele": "C",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000495142.6:n.2309C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1788,
          "referenceAllele": "C",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.1788C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1979,
          "referenceAllele": "C",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643578.1:n.1979C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643710.1:n.818C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.1957C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:p.Gln653Ter",
        "hgvsWellDefined": "ENSP00000496779.1:p.Gln653_Ile840delinsAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1957C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1957C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Gln653Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Gln653Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1824,
          "referenceAllele": "C",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646506.1:n.1824C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2316,
          "referenceAllele": "C",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.1957C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:p.Gln653Ter",
        "hgvsWellDefined": "ENSP00000215739.8:p.Gln653_Ile840delinsAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000415354.6:c.386C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393765.2:n.386C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 356,
          "referenceAllele": "C",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000439171.5:c.356C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS295298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 121,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000452988.5:c.122-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408789.1:n.122-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000463909.1:n.672C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2103,
          "referenceAllele": "C",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.2103C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "C",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000491432.5:n.378C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000495142.5:n.573C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573253888",
      "coordinates": [
        {
          "allele": "T",
          "end": 2060,
          "referenceAllele": "C",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.1957C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Gln653Ter",
        "hgvsWellDefined": "NP_006758.2:p.Gln653_Ile840delinsAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573253888",
      "coordinates": [
        {
          "allele": "T",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.1957C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Gln653Ter",
        "hgvsWellDefined": "NP_006758.2:p.Gln653_Ile840delinsAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1957C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1957C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Gln653Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Gln653Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}