{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374410662",
  "communityStandardTitle": [
    "NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=925317[alleleid]",
        "alleleId": 925317,
        "preferredName": "NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/943948",
        "RCV": [
          "RCV001214239",
          "RCV002290642",
          "RCV002504257"
        ],
        "variationId": 943948
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.111640340G>A?assembly=hg19",
        "id": "chr9:g.111640340G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.108878060G>A?assembly=hg38",
        "id": "chr9:g.108878060G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1827767235",
        "rs": 1827767235
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-108878060-G-A?dataset=gnomad_r4",
        "id": "9-108878060-G-A",
        "variant": "9:108878060 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 108878060,
          "referenceAllele": "G",
          "start": 108878059
        }
      ],
      "hgvs": [
        "NC_000009.12:g.108878060G>A",
        "CM000671.2:g.108878060G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 111640340,
          "referenceAllele": "G",
          "start": 111640339
        }
      ],
      "hgvs": [
        "NC_000009.11:g.111640340G>A",
        "CM000671.1:g.111640340G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 110680161,
          "referenceAllele": "G",
          "start": 110680160
        }
      ],
      "hgvs": [
        "NC_000009.10:g.110680161G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61269,
          "referenceAllele": "C",
          "start": 61268
        }
      ],
      "hgvs": [
        "NG_008788.1:g.61269C>T",
        "LRG_251:g.61269C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4106,
          "referenceAllele": "C",
          "start": 4105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.10:c.3790C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Gln1264Ter",
        "hgvsWellDefined": "ENSP00000363779.5:p.Gln1264_Asp1332delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.3790C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.3790C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Gln1264Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Gln1264Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3287,
          "referenceAllele": "C",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000495759.6:c.*2400C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433514.2:n.*2400C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4095,
          "referenceAllele": "C",
          "start": 4094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674535.1:c.3790C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502142.1:p.Gln1264Ter",
        "hgvsWellDefined": "ENSP00000502142.1:p.Gln1264_Ser1302delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProMetLeuSerPheLeuTyrHisGlnArgSerThrGluGluProSerGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6875,
          "referenceAllele": "C",
          "start": 6874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674704.1:n.6875C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674740.1:n.673C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4403,
          "referenceAllele": "C",
          "start": 4402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674836.1:n.4403C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4117,
          "referenceAllele": "C",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674890.1:c.*1025C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501870.1:n.*1025C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3899,
          "referenceAllele": "C",
          "start": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674938.1:c.3448C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502427.1:p.Gln1150Ter",
        "hgvsWellDefined": "ENSP00000502427.1:p.Gln1150_Asp1218delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4165,
          "referenceAllele": "C",
          "start": 4164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674948.1:c.3448C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501602.1:p.Gln1150Ter",
        "hgvsWellDefined": "ENSP00000501602.1:p.Gln1150_Asp1218delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4095,
          "referenceAllele": "C",
          "start": 4094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675052.1:c.3790C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502664.1:p.Gln1264Ter",
        "hgvsWellDefined": "ENSP00000502664.1:p.Gln1264_Glu1343delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAlaArgProThrProProLeuProProLeuLeuGlnProThrGlnArgGlyAspAspLysAspGluAspLeuTyrAspAspProLeuProPheAsnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675062.1:n.836C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4095,
          "referenceAllele": "C",
          "start": 4094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675078.1:c.3790C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501549.1:p.Gln1264Ter",
        "hgvsWellDefined": "ENSP00000501549.1:p.Gln1264_Ser1299delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProThrTrpGlyGluGlyValLeuLeuCysCysProSerTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3909,
          "referenceAllele": "C",
          "start": 3908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675215.1:c.*3014C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502558.1:n.*3014C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5617,
          "referenceAllele": "C",
          "start": 5616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675233.1:n.5617C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3678,
          "referenceAllele": "C",
          "start": 3677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675321.1:c.3678C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502751.1:n.3678C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5747,
          "referenceAllele": "C",
          "start": 5746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675325.1:n.5747C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3821,
          "referenceAllele": "C",
          "start": 3820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675335.1:c.3821C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502182.1:n.3821C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675370.1:n.456C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5642,
          "referenceAllele": "C",
          "start": 5641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675400.1:n.5642C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4093,
          "referenceAllele": "C",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675406.1:c.3790C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501893.1:p.Gln1264Ter",
        "hgvsWellDefined": "ENSP00000501893.1:p.Gln1264_Asp1332delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3883,
          "referenceAllele": "C",
          "start": 3882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675458.1:c.3883C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501754.1:n.3883C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5586,
          "referenceAllele": "C",
          "start": 5585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675507.1:n.5586C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4155,
          "referenceAllele": "C",
          "start": 4154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675535.1:c.*1417C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501667.1:n.*1417C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5648,
          "referenceAllele": "C",
          "start": 5647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675566.1:n.5648C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675580.1:n.943C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6838,
          "referenceAllele": "C",
          "start": 6837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675602.1:n.6838C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4954,
          "referenceAllele": "C",
          "start": 4953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675647.1:n.4954C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3907,
          "referenceAllele": "C",
          "start": 3906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675711.1:c.3907C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502485.1:n.3907C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4095,
          "referenceAllele": "C",
          "start": 4094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675727.1:c.3790C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501722.1:p.Gln1264Ter",
        "hgvsWellDefined": "ENSP00000501722.1:p.Gln1264_Gly1295delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLysTrpThrValIlePheLeuSerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5424,
          "referenceAllele": "C",
          "start": 5423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675748.1:n.5424C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4166,
          "referenceAllele": "C",
          "start": 4165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675765.1:c.*1173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502640.1:n.*1173C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4137,
          "referenceAllele": "C",
          "start": 4136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675825.1:c.3832C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502632.1:p.Gln1278Ter",
        "hgvsWellDefined": "ENSP00000502632.1:p.Gln1278_Asp1346delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5634,
          "referenceAllele": "C",
          "start": 5633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675877.1:n.5634C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5578,
          "referenceAllele": "C",
          "start": 5577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675893.1:c.*4859C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502001.1:n.*4859C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7405,
          "referenceAllele": "C",
          "start": 7404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675943.1:n.7405C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4004,
          "referenceAllele": "C",
          "start": 4003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675979.1:c.*3033C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502208.1:n.*3033C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4194,
          "referenceAllele": "C",
          "start": 4193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676044.1:c.*1450C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502378.1:n.*1450C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5575,
          "referenceAllele": "C",
          "start": 5574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676086.1:n.5575C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5618,
          "referenceAllele": "C",
          "start": 5617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676121.1:n.5618C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676162.1:n.519C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4038,
          "referenceAllele": "C",
          "start": 4037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676237.1:c.3733C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501828.1:p.Gln1245Ter",
        "hgvsWellDefined": "ENSP00000501828.1:p.Gln1245_Asp1313delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3822,
          "referenceAllele": "C",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676416.1:c.3490C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501660.1:p.Gln1164Ter",
        "hgvsWellDefined": "ENSP00000501660.1:p.Gln1164_Asp1232delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5628,
          "referenceAllele": "C",
          "start": 5627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676424.1:n.5628C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8259,
          "referenceAllele": "C",
          "start": 8258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676429.1:n.8259C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4098,
          "referenceAllele": "C",
          "start": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.9:c.3790C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Gln1264Ter",
        "hgvsWellDefined": "ENSP00000363779.5:p.Gln1264_Asp1332delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 930,
          "referenceAllele": "C",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000495759.5:c.930C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3140,
          "referenceAllele": "C",
          "start": 3139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000537196.1:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439367.1:p.Gln915Ter",
        "hgvsWellDefined": "ENSP00000439367.1:p.Gln915_Asp983delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462988",
      "coordinates": [
        {
          "allele": "T",
          "end": 4310,
          "referenceAllele": "C",
          "start": 4309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.3:c.3790C>T",
        "LRG_251t1:c.3790C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Gln1264Ter",
        "hgvsWellDefined": "NP_003631.2:p.Gln1264_Asp1332delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3880,
          "referenceAllele": "C",
          "start": 3879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_005252285.2:c.3448C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252342.1:p.Gln1150Ter",
        "hgvsWellDefined": "XP_005252342.1:p.Gln1150_Asp1218delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4148,
          "referenceAllele": "C",
          "start": 4147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.1:c.3832C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Gln1278Ter",
        "hgvsWellDefined": "XP_011517438.1:p.Gln1278_Asp1346delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3922,
          "referenceAllele": "C",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519137.1:c.3490C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517439.1:p.Gln1164Ter",
        "hgvsWellDefined": "XP_011517439.1:p.Gln1164_Asp1232delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989008",
      "coordinates": [
        {
          "allele": "T",
          "end": 4169,
          "referenceAllele": "C",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.1:c.3448C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Gln1150Ter",
        "hgvsWellDefined": "NP_001305289.1:p.Gln1150_Asp1218delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139726438",
      "coordinates": [
        {
          "allele": "T",
          "end": 4126,
          "referenceAllele": "C",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.1:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Gln915Ter",
        "hgvsWellDefined": "NP_001317678.1:p.Gln915_Asp983delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462988",
      "coordinates": [
        {
          "allele": "T",
          "end": 4314,
          "referenceAllele": "C",
          "start": 4313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.4:c.3790C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Gln1264Ter",
        "hgvsWellDefined": "NP_003631.2:p.Gln1264_Asp1332delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4159,
          "referenceAllele": "C",
          "start": 4158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.2:c.3832C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Gln1278Ter",
        "hgvsWellDefined": "XP_011517438.1:p.Gln1278_Asp1346delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4179,
          "referenceAllele": "C",
          "start": 4178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.3:n.4179C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462988",
      "coordinates": [
        {
          "allele": "T",
          "end": 4106,
          "referenceAllele": "C",
          "start": 4105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.5:c.3790C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Gln1264Ter",
        "hgvsWellDefined": "NP_003631.2:p.Gln1264_Asp1332delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.3790C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.3790C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Gln1264Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Gln1264Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989008",
      "coordinates": [
        {
          "allele": "T",
          "end": 3961,
          "referenceAllele": "C",
          "start": 3960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.2:c.3448C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Gln1150Ter",
        "hgvsWellDefined": "NP_001305289.1:p.Gln1150_Asp1218delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139726438",
      "coordinates": [
        {
          "allele": "T",
          "end": 3918,
          "referenceAllele": "C",
          "start": 3917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.2:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Gln915Ter",
        "hgvsWellDefined": "NP_001317678.1:p.Gln915_Asp983delinsLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687100"
    }
  ],
  "type": "nucleotide"
}