{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA419197359",
  "communityStandardTitle": [
    "NM_001854.4(COL11A1):c.915T>C (p.Asp305=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4020022",
        "active": true,
        "id": "COSM4020022"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4020023",
        "active": true,
        "id": "COSM4020023"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2864330[alleleid]",
        "alleleId": 2864330,
        "preferredName": "NM_001854.4(COL11A1):c.915T>C (p.Asp305=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2695643",
        "RCV": [
          "RCV003542209"
        ],
        "variationId": 2695643
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.103491152A>G?assembly=hg19",
        "id": "chr1:g.103491152A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.103025596A>G?assembly=hg38",
        "id": "chr1:g.103025596A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1259497119",
        "rs": 1259497119
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-103025596-A-G?dataset=gnomad_r3",
        "id": "1-103025596-A-G",
        "variant": "1:103025596 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-103025596-A-G?dataset=gnomad_r4",
        "id": "1-103025596-A-G",
        "variant": "1:103025596 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 103025596,
          "referenceAllele": "A",
          "start": 103025595
        }
      ],
      "hgvs": [
        "NC_000001.11:g.103025596A>G",
        "CM000663.2:g.103025596A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 103491152,
          "referenceAllele": "A",
          "start": 103491151
        }
      ],
      "hgvs": [
        "NC_000001.10:g.103491152A>G",
        "CM000663.1:g.103491152A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 103263740,
          "referenceAllele": "A",
          "start": 103263739
        }
      ],
      "hgvs": [
        "NC_000001.9:g.103263740A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 87901,
          "referenceAllele": "T",
          "start": 87900
        }
      ],
      "hgvs": [
        "NG_008033.1:g.87901T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 87901,
          "referenceAllele": "T",
          "start": 87900
        }
      ],
      "hgvs": [
        "NG_008033.2:g.87901T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673484"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "T",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.9:c.915T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.915T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.915T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:p.Asp305="
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:p.Asp305="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1375,
          "referenceAllele": "T",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000461720.6:c.1068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494909.1:p.Asp356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "T",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000644186.1:c.915T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493821.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1092,
          "referenceAllele": "T",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000645458.1:c.915T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494179.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "T",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000647280.1:c.915T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494583.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769330"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1116,
          "referenceAllele": "T",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000353414.8:c.798T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302551.6:p.Asp266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262967"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000358392.6:c.951T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351163.2:p.Asp317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1228,
          "referenceAllele": "T",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.7:c.915T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "T",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000427239.5:c.951T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408640.1:p.Asp317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1198,
          "endIntronDirection": "+",
          "endIntronOffset": 620,
          "referenceAllele": "T",
          "start": 1198,
          "startIntronDirection": "+",
          "startIntronOffset": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000512756.5:c.897+620T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426533.1:n.897+620T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "referenceAllele": "T",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000635193.1:c.233T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826161284",
      "coordinates": [
        {
          "allele": "C",
          "end": 1116,
          "referenceAllele": "T",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.1:c.798T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:p.Asp266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829346237",
      "coordinates": [
        {
          "allele": "C",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.3:c.915T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830158011",
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.2:c.951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:p.Asp317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "endIntronDirection": "+",
          "endIntronOffset": 620,
          "referenceAllele": "T",
          "start": 1215,
          "startIntronDirection": "+",
          "startIntronOffset": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.3:c.897+620T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:n.897+620T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1312,
          "referenceAllele": "T",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540719.1:c.915T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539021.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "referenceAllele": "T",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540721.1:c.-1514T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539023.1:n.-1514T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1313,
          "referenceAllele": "T",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XR_946545.1:n.1313T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.1:n.1233T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1469,
          "referenceAllele": "T",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000334.1:c.1068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855823.1:p.Asp356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1463,
          "referenceAllele": "T",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000335.1:c.1062T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855824.1:p.Asp354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1470,
          "referenceAllele": "T",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000336.1:c.1068T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855825.1:p.Asp356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556715"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829346237",
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "T",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.4:c.915T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665209",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.915T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.915T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:p.Asp305="
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:p.Asp305="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1241,
          "endIntronDirection": "+",
          "endIntronOffset": 620,
          "referenceAllele": "T",
          "start": 1241,
          "startIntronDirection": "+",
          "startIntronOffset": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.4:c.897+620T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:n.897+620T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "T",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.2:n.1259T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826161284",
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "T",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.2:c.798T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:p.Asp266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830158011",
      "coordinates": [
        {
          "allele": "C",
          "end": 1295,
          "referenceAllele": "T",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.3:c.951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:p.Asp317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729046"
    }
  ],
  "type": "nucleotide"
}