{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374476013",
  "communityStandardTitle": [
    "NM_005592.4(MUSK):c.1778+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1512333[alleleid]",
        "alleleId": 1512333,
        "preferredName": "NM_005592.4(MUSK):c.1778+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1518061",
        "RCV": [
          "RCV002021473"
        ],
        "variationId": 1518061
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.113547999G>T?assembly=hg19",
        "id": "chr9:g.113547999G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.110785719G>T?assembly=hg38",
        "id": "chr9:g.110785719G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2132026515",
        "rs": 2132026515
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 110785719,
          "referenceAllele": "G",
          "start": 110785718
        }
      ],
      "hgvs": [
        "NC_000009.12:g.110785719G>T",
        "CM000671.2:g.110785719G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 113547999,
          "referenceAllele": "G",
          "start": 113547998
        }
      ],
      "hgvs": [
        "NC_000009.11:g.113547999G>T",
        "CM000671.1:g.113547999G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 112587820,
          "referenceAllele": "G",
          "start": 112587819
        }
      ],
      "hgvs": [
        "NC_000009.10:g.112587820G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121949,
          "referenceAllele": "G",
          "start": 121948
        }
      ],
      "hgvs": [
        "NG_016016.1:g.121949G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121929,
          "referenceAllele": "G",
          "start": 121928
        }
      ],
      "hgvs": [
        "NG_016016.2:g.121929G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1892,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1892,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374448.9:c.1778+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363571.4:n.1778+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751439",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.1778+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.1778+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:n.1778+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:n.1778+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1566,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1566,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000189978.10:c.1520+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000189978.6:n.1520+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 809,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 809,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374438.1:n.809+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1566,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1566,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374440.7:c.1520+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363563.4:n.1520+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1912,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1912,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374448.8:c.1778+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363571.4:n.1778+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1880,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1880,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000416899.7:c.1754+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393608.3:n.1754+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1654,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.1:c.1520+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:n.1520+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1624,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.1:c.1490+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:n.1490+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1912,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1912,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.3:c.1778+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:n.1778+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2168,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2168,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251994.2:c.1808+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252051.1:n.1808+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2143,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2143,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251995.2:c.1784+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:n.1784+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2113,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2113,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.2:c.1754+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:n.1754+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2198,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2198,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518707.1:c.1838+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517009.1:n.1838+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 657,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518708.1:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517010.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2524,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2524,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251994.3:c.1808+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252051.1:n.1808+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2499,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2499,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251995.3:c.1784+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:n.1784+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2468,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2468,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.3:c.1754+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:n.1754+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 657,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518708.2:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517010.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2260,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2260,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_017014734.1:c.1544+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870223.1:n.1544+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4,
          "referenceAllele": "C",
          "start": 3
        }
      ],
      "hgvs": [
        "XR_001746892.1:n.4C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1634,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1634,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.2:c.1520+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:n.1520+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1604,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1604,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.2:c.1490+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:n.1490+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1160,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1160,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001369398.1:c.518+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356327.1:n.518+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1892,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1892,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.4:c.1778+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:n.1778+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.1778+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.1778+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:n.1778+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:n.1778+1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}