{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4055035",
  "communityStandardTitle": [
    "NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=252175[alleleid]",
        "alleleId": 252175,
        "preferredName": "NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/262173",
        "RCV": [
          "RCV000248584",
          "RCV000725762",
          "RCV001087053"
        ],
        "variationId": 262173
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-152605116-C-G",
        "id": "6-152605116-C-G",
        "variant": "6:152605116 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.152605116C>G?assembly=hg19",
        "id": "chr6:g.152605116C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.152283981C>G?assembly=hg38",
        "id": "chr6:g.152283981C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138039375",
        "rs": 138039375
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-152605116-C-G?dataset=gnomad_r2_1",
        "id": "6-152605116-C-G",
        "variant": "6:152605116 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-152283981-C-G?dataset=gnomad_r3",
        "id": "6-152283981-C-G",
        "variant": "6:152283981 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-152283981-C-G?dataset=gnomad_r4",
        "id": "6-152283981-C-G",
        "variant": "6:152283981 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 152283981,
          "referenceAllele": "C",
          "start": 152283980
        }
      ],
      "hgvs": [
        "NC_000006.12:g.152283981C>G",
        "CM000668.2:g.152283981C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 152605116,
          "referenceAllele": "C",
          "start": 152605115
        }
      ],
      "hgvs": [
        "NC_000006.11:g.152605116C>G",
        "CM000668.1:g.152605116C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 152646809,
          "referenceAllele": "C",
          "start": 152646808
        }
      ],
      "hgvs": [
        "NC_000006.10:g.152646809C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358419,
          "referenceAllele": "G",
          "start": 358418
        }
      ],
      "hgvs": [
        "NG_012855.1:g.358419G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002586"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358419,
          "referenceAllele": "G",
          "start": 358418
        }
      ],
      "hgvs": [
        "NG_012855.2:g.358419G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673620"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18769,
          "referenceAllele": "G",
          "start": 18768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367255.10:c.18204G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356224.5:p.Leu6068Phe",
        "hgvsWellDefined": "ENSP00000356224.5:p.Leu6068Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749966",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367255.10:c.18204G>C"
          },
          "RefSeq": {
            "hgvs": "NM_182961.4:c.18204G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356224.5:p.Leu6068Phe"
          },
          "RefSeq": {
            "hgvs": "NP_892006.3:p.Leu6068Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18467,
          "referenceAllele": "G",
          "start": 18466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000423061.6:c.17991G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396024.1:p.Leu5997Phe",
        "hgvsWellDefined": "ENSP00000396024.1:p.Leu5997Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17642,
          "referenceAllele": "G",
          "start": 17641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000341594.9:c.16989G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341887.6:p.Leu5663Phe",
        "hgvsWellDefined": "ENSP00000341887.6:p.Leu5663Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18806,
          "referenceAllele": "G",
          "start": 18805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367255.9:c.18204G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356224.5:p.Leu6068Phe",
        "hgvsWellDefined": "ENSP00000356224.5:p.Leu6068Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1896,
          "referenceAllele": "G",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367256.9:n.1896G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266293"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1788,
          "referenceAllele": "G",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000409694.6:n.1788G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS281772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18428,
          "referenceAllele": "G",
          "start": 18427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000423061.5:c.17991G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396024.1:p.Leu5997Phe",
        "hgvsWellDefined": "ENSP00000396024.1:p.Leu5997Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000489156.1:n.935G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18428,
          "referenceAllele": "G",
          "start": 18427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.3:c.17991G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.1:p.Leu5997Phe",
        "hgvsWellDefined": "NP_149062.1:p.Leu5997Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645482782",
      "coordinates": [
        {
          "allele": "C",
          "end": 18806,
          "referenceAllele": "G",
          "start": 18805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_182961.3:c.18204G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_892006.3:p.Leu6068Phe",
        "hgvsWellDefined": "NP_892006.3:p.Leu6068Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18716,
          "referenceAllele": "G",
          "start": 18715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715407.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715470.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715470.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18704,
          "referenceAllele": "G",
          "start": 18703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715408.1:c.18225G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715471.1:p.Leu6075Phe",
        "hgvsWellDefined": "XP_006715471.1:p.Leu6075Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18695,
          "referenceAllele": "G",
          "start": 18694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715409.1:c.18216G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715472.1:p.Leu6072Phe",
        "hgvsWellDefined": "XP_006715472.1:p.Leu6072Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18716,
          "referenceAllele": "G",
          "start": 18715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715410.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715473.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715473.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18665,
          "referenceAllele": "G",
          "start": 18664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715411.1:c.18186G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715474.1:p.Leu6062Phe",
        "hgvsWellDefined": "XP_006715474.1:p.Leu6062Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18704,
          "referenceAllele": "G",
          "start": 18703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715412.1:c.18225G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715475.1:p.Leu6075Phe",
        "hgvsWellDefined": "XP_006715475.1:p.Leu6075Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18716,
          "referenceAllele": "G",
          "start": 18715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715413.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715476.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715476.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18644,
          "referenceAllele": "G",
          "start": 18643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715414.1:c.18165G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715477.1:p.Leu6055Phe",
        "hgvsWellDefined": "XP_006715477.1:p.Leu6055Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18716,
          "referenceAllele": "G",
          "start": 18715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715415.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715478.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715478.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18704,
          "referenceAllele": "G",
          "start": 18703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715416.1:c.18225G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715479.1:p.Leu6075Phe",
        "hgvsWellDefined": "XP_006715479.1:p.Leu6075Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18575,
          "referenceAllele": "G",
          "start": 18574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715417.1:c.18096G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715480.1:p.Leu6032Phe",
        "hgvsWellDefined": "XP_006715480.1:p.Leu6032Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18563,
          "referenceAllele": "G",
          "start": 18562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715420.1:c.18084G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715483.1:p.Leu6028Phe",
        "hgvsWellDefined": "XP_006715483.1:p.Leu6028Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18560,
          "referenceAllele": "G",
          "start": 18559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715421.1:c.18081G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715484.1:p.Leu6027Phe",
        "hgvsWellDefined": "XP_006715484.1:p.Leu6027Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18557,
          "referenceAllele": "G",
          "start": 18556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715422.1:c.18078G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715485.1:p.Leu6026Phe",
        "hgvsWellDefined": "XP_006715485.1:p.Leu6026Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18716,
          "referenceAllele": "G",
          "start": 18715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715423.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715486.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715486.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18716,
          "referenceAllele": "G",
          "start": 18715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715424.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715487.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715487.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18716,
          "referenceAllele": "G",
          "start": 18715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715425.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715488.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715488.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18716,
          "referenceAllele": "G",
          "start": 18715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535641.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533943.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_011533943.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18704,
          "referenceAllele": "G",
          "start": 18703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535642.1:c.18225G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533944.1:p.Leu6075Phe",
        "hgvsWellDefined": "XP_011533944.1:p.Leu6075Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18551,
          "referenceAllele": "G",
          "start": 18550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535643.1:c.18072G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533945.1:p.Leu6024Phe",
        "hgvsWellDefined": "XP_011533945.1:p.Leu6024Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16767,
          "referenceAllele": "G",
          "start": 16766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535644.1:c.16512G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533946.1:p.Leu5504Phe",
        "hgvsWellDefined": "XP_011533946.1:p.Leu5504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102647"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16096,
          "referenceAllele": "G",
          "start": 16095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535645.1:c.16005G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533947.1:p.Leu5335Phe",
        "hgvsWellDefined": "XP_011533947.1:p.Leu5335Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18716,
          "referenceAllele": "G",
          "start": 18715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535646.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533948.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_011533948.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11472,
          "referenceAllele": "G",
          "start": 11471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535647.1:c.11472G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533949.1:p.Leu3824Phe",
        "hgvsWellDefined": "XP_011533949.1:p.Leu3824Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18708,
          "referenceAllele": "G",
          "start": 18707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715408.2:c.18225G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715471.1:p.Leu6075Phe",
        "hgvsWellDefined": "XP_006715471.1:p.Leu6075Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18720,
          "referenceAllele": "G",
          "start": 18719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715410.2:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715473.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715473.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538923"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18708,
          "referenceAllele": "G",
          "start": 18707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715412.2:c.18225G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715475.1:p.Leu6075Phe",
        "hgvsWellDefined": "XP_006715475.1:p.Leu6075Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18720,
          "referenceAllele": "G",
          "start": 18719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715413.2:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715476.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715476.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18720,
          "referenceAllele": "G",
          "start": 18719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715415.2:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715478.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715478.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18708,
          "referenceAllele": "G",
          "start": 18707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715416.2:c.18225G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715479.1:p.Leu6075Phe",
        "hgvsWellDefined": "XP_006715479.1:p.Leu6075Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18579,
          "referenceAllele": "G",
          "start": 18578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715417.2:c.18096G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715480.1:p.Leu6032Phe",
        "hgvsWellDefined": "XP_006715480.1:p.Leu6032Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18567,
          "referenceAllele": "G",
          "start": 18566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715420.2:c.18084G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715483.1:p.Leu6028Phe",
        "hgvsWellDefined": "XP_006715483.1:p.Leu6028Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18564,
          "referenceAllele": "G",
          "start": 18563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715421.2:c.18081G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715484.1:p.Leu6027Phe",
        "hgvsWellDefined": "XP_006715484.1:p.Leu6027Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18720,
          "referenceAllele": "G",
          "start": 18719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715423.2:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715486.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715486.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18720,
          "referenceAllele": "G",
          "start": 18719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715424.2:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715487.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715487.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18720,
          "referenceAllele": "G",
          "start": 18719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715425.2:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715488.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_006715488.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18720,
          "referenceAllele": "G",
          "start": 18719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535641.2:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533943.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_011533943.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18708,
          "referenceAllele": "G",
          "start": 18707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535642.2:c.18225G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533944.1:p.Leu6075Phe",
        "hgvsWellDefined": "XP_011533944.1:p.Leu6075Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16160,
          "referenceAllele": "G",
          "start": 16159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535645.2:c.16005G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533947.1:p.Leu5335Phe",
        "hgvsWellDefined": "XP_011533947.1:p.Leu5335Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18835,
          "referenceAllele": "G",
          "start": 18834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010608.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866097.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_016866097.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18642,
          "referenceAllele": "G",
          "start": 18641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010609.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866098.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_016866098.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18621,
          "referenceAllele": "G",
          "start": 18620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010610.1:c.18216G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866099.1:p.Leu6072Phe",
        "hgvsWellDefined": "XP_016866099.1:p.Leu6072Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18479,
          "referenceAllele": "G",
          "start": 18478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010611.2:c.18210G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866100.1:p.Leu6070Phe",
        "hgvsWellDefined": "XP_016866100.1:p.Leu6070Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18348,
          "referenceAllele": "G",
          "start": 18347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010612.1:c.18159G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866101.1:p.Leu6053Phe",
        "hgvsWellDefined": "XP_016866101.1:p.Leu6053Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18720,
          "referenceAllele": "G",
          "start": 18719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010613.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866102.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_016866102.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18567,
          "referenceAllele": "G",
          "start": 18566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010614.1:c.18084G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866103.1:p.Leu6028Phe",
        "hgvsWellDefined": "XP_016866103.1:p.Leu6028Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18567,
          "referenceAllele": "G",
          "start": 18566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010615.1:c.18084G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866104.1:p.Leu6028Phe",
        "hgvsWellDefined": "XP_016866104.1:p.Leu6028Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18720,
          "referenceAllele": "G",
          "start": 18719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010616.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866105.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_016866105.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564637"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18720,
          "referenceAllele": "G",
          "start": 18719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010617.1:c.18237G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866106.1:p.Leu6079Phe",
        "hgvsWellDefined": "XP_016866106.1:p.Leu6079Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18708,
          "referenceAllele": "G",
          "start": 18707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010618.1:c.18225G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866107.1:p.Leu6075Phe",
        "hgvsWellDefined": "XP_016866107.1:p.Leu6075Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16799,
          "referenceAllele": "G",
          "start": 16798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010619.1:c.16512G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866108.1:p.Leu5504Phe",
        "hgvsWellDefined": "XP_016866108.1:p.Leu5504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18720,
          "referenceAllele": "G",
          "start": 18719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XR_001743287.1:n.18720G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645482782",
      "coordinates": [
        {
          "allele": "C",
          "end": 18769,
          "referenceAllele": "G",
          "start": 18768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_182961.4:c.18204G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_892006.3:p.Leu6068Phe",
        "hgvsWellDefined": "NP_892006.3:p.Leu6068Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673038",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367255.10:c.18204G>C"
          },
          "RefSeq": {
            "hgvs": "NM_182961.4:c.18204G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356224.5:p.Leu6068Phe"
          },
          "RefSeq": {
            "hgvs": "NP_892006.3:p.Leu6068Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830087232",
      "coordinates": [
        {
          "allele": "C",
          "end": 18467,
          "referenceAllele": "G",
          "start": 18466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.5:c.17991G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.2:p.Leu5997Phe",
        "hgvsWellDefined": "NP_149062.2:p.Leu5997Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728908"
    }
  ],
  "type": "nucleotide"
}