{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA247458",
  "communityStandardTitle": [
    "NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195832[alleleid]",
        "alleleId": 195832,
        "preferredName": "NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198671",
        "RCV": [
          "RCV000180075",
          "RCV000533703",
          "RCV000316351",
          "RCV000710240",
          "RCV000714610",
          "RCV004537501"
        ],
        "variationId": 198671
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-152651557-G-A",
        "id": "6-152651557-G-A",
        "variant": "6:152651557 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.152651557G>A?assembly=hg19",
        "id": "chr6:g.152651557G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.152330422G>A?assembly=hg38",
        "id": "chr6:g.152330422G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41301343",
        "rs": 41301343
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-152651557-G-A?dataset=gnomad_r2_1",
        "id": "6-152651557-G-A",
        "variant": "6:152651557 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-152330422-G-A?dataset=gnomad_r3",
        "id": "6-152330422-G-A",
        "variant": "6:152330422 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-152330422-G-A?dataset=gnomad_r4",
        "id": "6-152330422-G-A",
        "variant": "6:152330422 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 152330422,
          "referenceAllele": "G",
          "start": 152330421
        }
      ],
      "hgvs": [
        "NC_000006.12:g.152330422G>A",
        "CM000668.2:g.152330422G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 152651557,
          "referenceAllele": "G",
          "start": 152651556
        }
      ],
      "hgvs": [
        "NC_000006.11:g.152651557G>A",
        "CM000668.1:g.152651557G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 152693250,
          "referenceAllele": "G",
          "start": 152693249
        }
      ],
      "hgvs": [
        "NC_000006.10:g.152693250G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 311978,
          "referenceAllele": "C",
          "start": 311977
        }
      ],
      "hgvs": [
        "NG_012855.1:g.311978C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 311978,
          "referenceAllele": "C",
          "start": 311977
        }
      ],
      "hgvs": [
        "NG_012855.2:g.311978C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673620"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14828,
          "referenceAllele": "C",
          "start": 14827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367255.10:c.14263C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356224.5:p.Leu4755Phe",
        "hgvsWellDefined": "ENSP00000356224.5:p.Leu4755Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749966",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367255.10:c.14263C>T"
          },
          "RefSeq": {
            "hgvs": "NM_182961.4:c.14263C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356224.5:p.Leu4755Phe"
          },
          "RefSeq": {
            "hgvs": "NP_892006.3:p.Leu4755Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14526,
          "referenceAllele": "C",
          "start": 14525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000423061.6:c.14050C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396024.1:p.Leu4684Phe",
        "hgvsWellDefined": "ENSP00000396024.1:p.Leu4684Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14106,
          "referenceAllele": "C",
          "start": 14105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000341594.9:c.13453C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341887.6:p.Leu4485Phe",
        "hgvsWellDefined": "ENSP00000341887.6:p.Leu4485Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14865,
          "referenceAllele": "C",
          "start": 14864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367255.9:c.14263C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356224.5:p.Leu4755Phe",
        "hgvsWellDefined": "ENSP00000356224.5:p.Leu4755Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14487,
          "referenceAllele": "C",
          "start": 14486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000423061.5:c.14050C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396024.1:p.Leu4684Phe",
        "hgvsWellDefined": "ENSP00000396024.1:p.Leu4684Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000448038.2:c.-1656C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390975.2:n.-1656C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000490135.6:n.1609C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA247459",
      "coordinates": [
        {
          "allele": "T",
          "end": 14487,
          "referenceAllele": "C",
          "start": 14486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.3:c.14050C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.1:p.Leu4684Phe",
        "hgvsWellDefined": "NP_149062.1:p.Leu4684Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA247460",
      "coordinates": [
        {
          "allele": "T",
          "end": 14865,
          "referenceAllele": "C",
          "start": 14864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_182961.3:c.14263C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_892006.3:p.Leu4755Phe",
        "hgvsWellDefined": "NP_892006.3:p.Leu4755Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715407.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715470.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715470.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715408.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715471.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715471.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14742,
          "referenceAllele": "C",
          "start": 14741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715409.1:c.14263C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715472.1:p.Leu4755Phe",
        "hgvsWellDefined": "XP_006715472.1:p.Leu4755Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715410.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715473.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715473.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14712,
          "referenceAllele": "C",
          "start": 14711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715411.1:c.14233C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715474.1:p.Leu4745Phe",
        "hgvsWellDefined": "XP_006715474.1:p.Leu4745Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715412.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715475.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715475.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715413.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715476.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715476.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14691,
          "referenceAllele": "C",
          "start": 14690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715414.1:c.14212C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715477.1:p.Leu4738Phe",
        "hgvsWellDefined": "XP_006715477.1:p.Leu4738Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715415.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715478.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715478.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715416.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715479.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715479.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715417.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715480.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715480.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715420.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715483.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715483.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14607,
          "referenceAllele": "C",
          "start": 14606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715421.1:c.14128C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715484.1:p.Leu4710Phe",
        "hgvsWellDefined": "XP_006715484.1:p.Leu4710Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14604,
          "referenceAllele": "C",
          "start": 14603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715422.1:c.14125C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715485.1:p.Leu4709Phe",
        "hgvsWellDefined": "XP_006715485.1:p.Leu4709Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715423.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715486.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715486.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715424.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715487.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715487.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715425.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715488.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715488.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535641.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533943.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_011533943.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535642.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533944.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_011533944.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14598,
          "referenceAllele": "C",
          "start": 14597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535643.1:c.14119C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533945.1:p.Leu4707Phe",
        "hgvsWellDefined": "XP_011533945.1:p.Leu4707Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12814,
          "referenceAllele": "C",
          "start": 12813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535644.1:c.12559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533946.1:p.Leu4187Phe",
        "hgvsWellDefined": "XP_011533946.1:p.Leu4187Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12143,
          "referenceAllele": "C",
          "start": 12142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535645.1:c.12052C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533947.1:p.Leu4018Phe",
        "hgvsWellDefined": "XP_011533947.1:p.Leu4018Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14763,
          "referenceAllele": "C",
          "start": 14762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535646.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533948.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_011533948.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7519,
          "referenceAllele": "C",
          "start": 7518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535647.1:c.7519C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533949.1:p.Leu2507Phe",
        "hgvsWellDefined": "XP_011533949.1:p.Leu2507Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715408.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715471.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715471.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715410.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715473.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715473.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715412.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715475.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715475.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715413.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715476.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715476.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715415.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715478.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715478.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715416.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715479.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715479.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715417.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715480.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715480.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715420.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715483.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715483.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14611,
          "referenceAllele": "C",
          "start": 14610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715421.2:c.14128C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715484.1:p.Leu4710Phe",
        "hgvsWellDefined": "XP_006715484.1:p.Leu4710Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715423.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715486.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715486.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715424.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715487.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715487.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715425.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715488.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_006715488.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535641.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533943.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_011533943.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535642.2:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533944.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_011533944.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12207,
          "referenceAllele": "C",
          "start": 12206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535645.2:c.12052C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533947.1:p.Leu4018Phe",
        "hgvsWellDefined": "XP_011533947.1:p.Leu4018Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14882,
          "referenceAllele": "C",
          "start": 14881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010608.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866097.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_016866097.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14689,
          "referenceAllele": "C",
          "start": 14688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010609.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866098.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_016866098.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14668,
          "referenceAllele": "C",
          "start": 14667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010610.1:c.14263C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866099.1:p.Leu4755Phe",
        "hgvsWellDefined": "XP_016866099.1:p.Leu4755Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14526,
          "referenceAllele": "C",
          "start": 14525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010611.2:c.14257C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866100.1:p.Leu4753Phe",
        "hgvsWellDefined": "XP_016866100.1:p.Leu4753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14395,
          "referenceAllele": "C",
          "start": 14394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010612.1:c.14206C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866101.1:p.Leu4736Phe",
        "hgvsWellDefined": "XP_016866101.1:p.Leu4736Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010613.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866102.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_016866102.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010614.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866103.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_016866103.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010615.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866104.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_016866104.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010616.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866105.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_016866105.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010617.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866106.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_016866106.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010618.1:c.14284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866107.1:p.Leu4762Phe",
        "hgvsWellDefined": "XP_016866107.1:p.Leu4762Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12846,
          "referenceAllele": "C",
          "start": 12845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010619.1:c.12559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866108.1:p.Leu4187Phe",
        "hgvsWellDefined": "XP_016866108.1:p.Leu4187Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14767,
          "referenceAllele": "C",
          "start": 14766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XR_001743287.1:n.14767C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA247460",
      "coordinates": [
        {
          "allele": "T",
          "end": 14828,
          "referenceAllele": "C",
          "start": 14827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_182961.4:c.14263C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_892006.3:p.Leu4755Phe",
        "hgvsWellDefined": "NP_892006.3:p.Leu4755Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673038",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367255.10:c.14263C>T"
          },
          "RefSeq": {
            "hgvs": "NM_182961.4:c.14263C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356224.5:p.Leu4755Phe"
          },
          "RefSeq": {
            "hgvs": "NP_892006.3:p.Leu4755Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830086051",
      "coordinates": [
        {
          "allele": "T",
          "end": 14526,
          "referenceAllele": "C",
          "start": 14525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.5:c.14050C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.2:p.Leu4684Phe",
        "hgvsWellDefined": "NP_149062.2:p.Leu4684Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728908"
    }
  ],
  "type": "nucleotide"
}