{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410781836",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.1033G>T (p.Glu345Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1444925[alleleid]",
        "alleleId": 1444925,
        "preferredName": "NM_006767.4(LZTR1):c.1033G>T (p.Glu345Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1454586",
        "RCV": [
          "RCV001941944",
          "RCV003471156"
        ],
        "variationId": 1454586
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21346542G>T?assembly=hg19",
        "id": "chr22:g.21346542G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20992253G>T?assembly=hg38",
        "id": "chr22:g.20992253G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761956867",
        "rs": 761956867
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20992253-G-T?dataset=gnomad_r4",
        "id": "22-20992253-G-T",
        "variant": "22:20992253 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 20992253,
          "referenceAllele": "G",
          "start": 20992252
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20992253G>T",
        "CM000684.2:g.20992253G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 21346542,
          "referenceAllele": "G",
          "start": 21346541
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21346542G>T",
        "CM000684.1:g.21346542G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 19676542,
          "referenceAllele": "G",
          "start": 19676541
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19676542G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14985,
          "referenceAllele": "G",
          "start": 14984
        }
      ],
      "hgvs": [
        "NG_034193.1:g.14985G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1115,
          "referenceAllele": "G",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.1033G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:p.Glu345Ter",
        "hgvsWellDefined": "ENSP00000515073.1:p.Glu346_Ile813delinsValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "G",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000495142.6:n.378G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.864G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1055,
          "referenceAllele": "G",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643578.1:n.1055G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.1033G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:p.Glu345Ter",
        "hgvsWellDefined": "ENSP00000496779.1:p.Glu346_Ile840delinsValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1033G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1033G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Glu345Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Glu345Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646506.1:n.612G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.1033G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:p.Glu345Ter",
        "hgvsWellDefined": "ENSP00000215739.8:p.Glu346_Ile840delinsValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000461510.1:n.134G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "G",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.1179G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 89,
          "referenceAllele": "G",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000492480.1:n.89G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "G",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000497716.5:n.860G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333887"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573253671",
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.1033G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Glu345Ter",
        "hgvsWellDefined": "NP_006758.2:p.Glu346_Ile840delinsValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573253671",
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.1033G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Glu345Ter",
        "hgvsWellDefined": "NP_006758.2:p.Glu346_Ile840delinsValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1033G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1033G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Glu345Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Glu345Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}