{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410774304",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1821327[alleleid]",
        "alleleId": 1821327,
        "preferredName": "NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1765687",
        "RCV": [
          "RCV002449964",
          "RCV003471369"
        ],
        "variationId": 1765687
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21347962C>G?assembly=hg19",
        "id": "chr22:g.21347962C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20993673C>G?assembly=hg38",
        "id": "chr22:g.20993673C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752388008",
        "rs": 752388008
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 20993673,
          "referenceAllele": "C",
          "start": 20993672
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20993673C>G",
        "CM000684.2:g.20993673C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 21347962,
          "referenceAllele": "C",
          "start": 21347961
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21347962C>G",
        "CM000684.1:g.21347962C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 19677962,
          "referenceAllele": "C",
          "start": 19677961
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19677962C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16405,
          "referenceAllele": "C",
          "start": 16404
        }
      ],
      "hgvs": [
        "NG_034193.1:g.16405C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1354,
          "referenceAllele": "C",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.1272C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:p.Tyr424Ter",
        "hgvsWellDefined": "ENSP00000515073.1:p.Tyr424_Ile813delinsProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000495142.6:n.617C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.1103C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643578.1:n.1294C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767353"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "referenceAllele": "C",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643710.1:n.133C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.1272C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:p.Tyr424Ter",
        "hgvsWellDefined": "ENSP00000496779.1:p.Tyr424_Ile840delinsProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1272C>G"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1272C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Tyr424Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Tyr424Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646506.1:n.851C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1631,
          "referenceAllele": "C",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.1272C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:p.Tyr424Ter",
        "hgvsWellDefined": "ENSP00000215739.8:p.Tyr424_Ile840delinsProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1418,
          "referenceAllele": "C",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.1418C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 321,
          "referenceAllele": "C",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000492480.1:n.321C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580350514",
      "coordinates": [
        {
          "allele": "G",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.1272C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Tyr424Ter",
        "hgvsWellDefined": "NP_006758.2:p.Tyr424_Ile840delinsProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580350514",
      "coordinates": [
        {
          "allele": "G",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.1272C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Tyr424Ter",
        "hgvsWellDefined": "NP_006758.2:p.Tyr424_Ile840delinsProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1272C>G"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1272C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Tyr424Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Tyr424Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}