{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410779888",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.485G>A (p.Trp162Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1311257[alleleid]",
        "alleleId": 1311257,
        "preferredName": "NM_006767.4(LZTR1):c.485G>A (p.Trp162Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1321013",
        "RCV": [
          "RCV001776992",
          "RCV002334691"
        ],
        "variationId": 1321013
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21342383G>A?assembly=hg19",
        "id": "chr22:g.21342383G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20988094G>A?assembly=hg38",
        "id": "chr22:g.20988094G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1458120855",
        "rs": 1458120855
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20988094-G-A?dataset=gnomad_r3",
        "id": "22-20988094-G-A",
        "variant": "22:20988094 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20988094-G-A?dataset=gnomad_r4",
        "id": "22-20988094-G-A",
        "variant": "22:20988094 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 20988094,
          "referenceAllele": "G",
          "start": 20988093
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20988094G>A",
        "CM000684.2:g.20988094G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 21342383,
          "referenceAllele": "G",
          "start": 21342382
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21342383G>A",
        "CM000684.1:g.21342383G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 19672383,
          "referenceAllele": "G",
          "start": 19672382
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19672383G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10826,
          "referenceAllele": "G",
          "start": 10825
        }
      ],
      "hgvs": [
        "NG_034193.1:g.10826G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:p.Trp162Ter",
        "hgvsWellDefined": "ENSP00000515073.1:p.Trp162_Ile813delinsThrGluTrpLysIleGluGlyArgLeuProValAlaArgSerAlaHisGlyAlaThrValTyrSerAspLysLeuTrpIlePheAlaGlyTyrAspGlyAsnAlaArgLeuAsnAspMetTrpThrIleGlyLeuGlnAspArgGluLeuThrCysTrpGluGluValAlaGlnSerGlyGluIleProProSerCysCysAsnPheProValAlaValCysArgAspLysMetPheValPheSerGlyGlnSerGlyAlaLysIleThrAsnAsnLeuPheGlnPheGluPheLysAspLysThrTrpThrArgIleProThrGluHisLeuLeuArgGlySerProProProProGlnArgArgTyrGlyHisThrMetValAlaPheAspArgHisLeuTyrValPheGlyGlyAlaAlaAspAsnThrLeuProAsnGluLeuHisCysTyrAspValAspPheGlnThrTrpGluValValGlnProSerSerAspSerGluValGlyGlyAlaGluValProGluArgAlaCysAlaSerGluGluValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "referenceAllele": "G",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.316G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "G",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000644435.1:c.391G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000645935.1:c.428G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493479.1:p.Trp143Ter",
        "hgvsWellDefined": "ENSP00000493479.1:p.Trp143_Glu149del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:p.Trp162Ter",
        "hgvsWellDefined": "ENSP00000496779.1:p.Trp162_Ile840delinsThrGluTrpLysIleGluGlyArgLeuProValAlaArgSerAlaHisGlyAlaThrValTyrSerAspLysLeuTrpIlePheAlaGlyTyrAspGlyAsnAlaArgLeuAsnAspMetTrpThrIleGlyLeuGlnAspArgGluLeuThrCysTrpGluGluValAlaGlnSerGlyGluIleProProSerCysCysAsnPheProValAlaValCysArgAspLysMetPheValPheSerGlyGlnSerGlyAlaLysIleThrAsnAsnLeuPheGlnPheGluPheLysAspLysThrTrpThrArgIleProThrGluHisLeuLeuArgGlySerProProProProGlnArgArgTyrGlyHisThrMetValAlaPheAspArgHisLeuTyrValPheGlyGlyAlaAlaAspAsnThrLeuProAsnGluLeuHisCysTyrAspValAspPheGlnThrTrpGluValValGlnProSerSerAspSerGluValGlyGlyAlaGluValProGluArgAlaCysAlaSerGluGluValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.485G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.485G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Trp162Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Trp162Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64,
          "referenceAllele": "G",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646506.1:n.64G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:p.Trp162Ter",
        "hgvsWellDefined": "ENSP00000215739.8:p.Trp162_Ile840delinsThrGluTrpLysIleGluGlyArgLeuProValAlaArgSerAlaHisGlyAlaThrValTyrSerAspLysLeuTrpIlePheAlaGlyTyrAspGlyAsnAlaArgLeuAsnAspMetTrpThrIleGlyLeuGlnAspArgGluLeuThrCysTrpGluGluValAlaGlnSerGlyGluIleProProSerCysCysAsnPheProValAlaValCysArgAspLysMetPheValPheSerGlyGlnSerGlyAlaLysIleThrAsnAsnLeuPheGlnPheGluPheLysAspLysThrTrpThrArgIleProThrGluHisLeuLeuArgGlySerProProProProGlnArgArgTyrGlyHisThrMetValAlaPheAspArgHisLeuTyrValPheGlyGlyAlaAlaAspAsnThrLeuProAsnGluLeuHisCysTyrAspValAspPheGlnThrTrpGluValValGlnProSerSerAspSerGluValGlyGlyAlaGluValProGluArgAlaCysAlaSerGluGluValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000414985.5:c.*51G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397247.1:n.*51G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 539,
          "referenceAllele": "G",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000443265.5:c.*184G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406466.1:n.*184G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.631G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000480895.1:n.181G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195259",
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Trp162Ter",
        "hgvsWellDefined": "NP_006758.2:p.Trp162_Ile840delinsThrGluTrpLysIleGluGlyArgLeuProValAlaArgSerAlaHisGlyAlaThrValTyrSerAspLysLeuTrpIlePheAlaGlyTyrAspGlyAsnAlaArgLeuAsnAspMetTrpThrIleGlyLeuGlnAspArgGluLeuThrCysTrpGluGluValAlaGlnSerGlyGluIleProProSerCysCysAsnPheProValAlaValCysArgAspLysMetPheValPheSerGlyGlnSerGlyAlaLysIleThrAsnAsnLeuPheGlnPheGluPheLysAspLysThrTrpThrArgIleProThrGluHisLeuLeuArgGlySerProProProProGlnArgArgTyrGlyHisThrMetValAlaPheAspArgHisLeuTyrValPheGlyGlyAlaAlaAspAsnThrLeuProAsnGluLeuHisCysTyrAspValAspPheGlnThrTrpGluValValGlnProSerSerAspSerGluValGlyGlyAlaGluValProGluArgAlaCysAlaSerGluGluValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195259",
      "coordinates": [
        {
          "allele": "A",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Trp162Ter",
        "hgvsWellDefined": "NP_006758.2:p.Trp162_Ile840delinsThrGluTrpLysIleGluGlyArgLeuProValAlaArgSerAlaHisGlyAlaThrValTyrSerAspLysLeuTrpIlePheAlaGlyTyrAspGlyAsnAlaArgLeuAsnAspMetTrpThrIleGlyLeuGlnAspArgGluLeuThrCysTrpGluGluValAlaGlnSerGlyGluIleProProSerCysCysAsnPheProValAlaValCysArgAspLysMetPheValPheSerGlyGlnSerGlyAlaLysIleThrAsnAsnLeuPheGlnPheGluPheLysAspLysThrTrpThrArgIleProThrGluHisLeuLeuArgGlySerProProProProGlnArgArgTyrGlyHisThrMetValAlaPheAspArgHisLeuTyrValPheGlyGlyAlaAlaAspAsnThrLeuProAsnGluLeuHisCysTyrAspValAspPheGlnThrTrpGluValValGlnProSerSerAspSerGluValGlyGlyAlaGluValProGluArgAlaCysAlaSerGluGluValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.485G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.485G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Trp162Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Trp162Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}