{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10628797",
  "communityStandardTitle": [
    "NM_005592.4(MUSK):c.780T>C (p.Ser260=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=310666[alleleid]",
        "alleleId": 310666,
        "preferredName": "NM_005592.4(MUSK):c.780T>C (p.Ser260=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364603",
        "RCV": [
          "RCV000359604",
          "RCV003766096"
        ],
        "variationId": 364603
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.113509947T>C?assembly=hg19",
        "id": "chr9:g.113509947T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.110747667T>C?assembly=hg38",
        "id": "chr9:g.110747667T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886063353",
        "rs": 886063353
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-113509947-T-C?dataset=gnomad_r2_1",
        "id": "9-113509947-T-C",
        "variant": "9:113509947 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-110747667-T-C?dataset=gnomad_r4",
        "id": "9-110747667-T-C",
        "variant": "9:110747667 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 110747667,
          "referenceAllele": "T",
          "start": 110747666
        }
      ],
      "hgvs": [
        "NC_000009.12:g.110747667T>C",
        "CM000671.2:g.110747667T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 113509947,
          "referenceAllele": "T",
          "start": 113509946
        }
      ],
      "hgvs": [
        "NC_000009.11:g.113509947T>C",
        "CM000671.1:g.113509947T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 112549768,
          "referenceAllele": "T",
          "start": 112549767
        }
      ],
      "hgvs": [
        "NC_000009.10:g.112549768T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83897,
          "referenceAllele": "T",
          "start": 83896
        }
      ],
      "hgvs": [
        "NG_016016.1:g.83897T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83877,
          "referenceAllele": "T",
          "start": 83876
        }
      ],
      "hgvs": [
        "NG_016016.2:g.83877T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "referenceAllele": "T",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374448.9:c.780T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363571.4:p.Ser260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751439",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.780T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.780T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:p.Ser260="
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.Ser260="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 856,
          "referenceAllele": "T",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000189978.10:c.810T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000189978.6:p.Ser270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 856,
          "referenceAllele": "T",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374440.7:c.810T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363563.4:p.Ser270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 914,
          "referenceAllele": "T",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374448.8:c.780T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363571.4:p.Ser260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 906,
          "referenceAllele": "T",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000416899.7:c.780T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393608.3:p.Ser260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 202,
          "referenceAllele": "T",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000634612.1:n.202T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407883"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029053",
      "coordinates": [
        {
          "allele": "C",
          "end": 944,
          "referenceAllele": "T",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.1:c.810T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:p.Ser270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029505",
      "coordinates": [
        {
          "allele": "C",
          "end": 914,
          "referenceAllele": "T",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.1:c.780T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:p.Ser260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829607592",
      "coordinates": [
        {
          "allele": "C",
          "end": 914,
          "referenceAllele": "T",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.3:c.780T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.Ser260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1170,
          "referenceAllele": "T",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251994.2:c.810T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252051.1:p.Ser270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1169,
          "referenceAllele": "T",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251995.2:c.810T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:p.Ser270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1139,
          "referenceAllele": "T",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.2:c.780T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:p.Ser260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1200,
          "referenceAllele": "T",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518707.1:c.840T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517009.1:p.Ser280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "T",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251994.3:c.810T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252051.1:p.Ser270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1525,
          "referenceAllele": "T",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251995.3:c.810T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:p.Ser270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1494,
          "referenceAllele": "T",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.3:c.780T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:p.Ser260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533726"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "T",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_017014734.1:c.810T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870223.1:p.Ser270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029053",
      "coordinates": [
        {
          "allele": "C",
          "end": 924,
          "referenceAllele": "T",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.2:c.810T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:p.Ser270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029505",
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "referenceAllele": "T",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.2:c.780T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:p.Ser260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 186,
          "referenceAllele": "T",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001369398.1:c.-457T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356327.1:n.-457T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829607592",
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "referenceAllele": "T",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.4:c.780T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.Ser260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.780T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.780T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:p.Ser260="
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.Ser260="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}