{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341155565",
  "communityStandardTitle": [
    "NM_001854.4(COL11A1):c.945A>T (p.Glu315Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.103491122T>A?assembly=hg19",
        "id": "chr1:g.103491122T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.103025566T>A?assembly=hg38",
        "id": "chr1:g.103025566T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 103025566,
          "referenceAllele": "T",
          "start": 103025565
        }
      ],
      "hgvs": [
        "NC_000001.11:g.103025566T>A",
        "CM000663.2:g.103025566T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 103491122,
          "referenceAllele": "T",
          "start": 103491121
        }
      ],
      "hgvs": [
        "NC_000001.10:g.103491122T>A",
        "CM000663.1:g.103491122T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 103263710,
          "referenceAllele": "T",
          "start": 103263709
        }
      ],
      "hgvs": [
        "NC_000001.9:g.103263710T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87931,
          "referenceAllele": "A",
          "start": 87930
        }
      ],
      "hgvs": [
        "NG_008033.1:g.87931A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87931,
          "referenceAllele": "A",
          "start": 87930
        }
      ],
      "hgvs": [
        "NG_008033.2:g.87931A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673484"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "A",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.9:c.945A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:p.Glu315Asp",
        "hgvsWellDefined": "ENSP00000359114.3:p.Glu315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.945A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.945A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:p.Glu315Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:p.Glu315Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "referenceAllele": "A",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000461720.6:c.1098A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494909.1:p.Glu366Asp",
        "hgvsWellDefined": "ENSP00000494909.1:p.Glu366Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "A",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000644186.1:c.945A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493821.1:p.Glu315Asp",
        "hgvsWellDefined": "ENSP00000493821.1:p.Glu315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "A",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000645458.1:c.945A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494179.1:p.Glu315Asp",
        "hgvsWellDefined": "ENSP00000494179.1:p.Glu315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "A",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000647280.1:c.945A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494583.1:p.Glu315Asp",
        "hgvsWellDefined": "ENSP00000494583.1:p.Glu315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "A",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000353414.8:c.828A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302551.6:p.Glu276Asp",
        "hgvsWellDefined": "ENSP00000302551.6:p.Glu276Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000358392.6:c.981A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351163.2:p.Glu327Asp",
        "hgvsWellDefined": "ENSP00000351163.2:p.Glu327Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1258,
          "referenceAllele": "A",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.7:c.945A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:p.Glu315Asp",
        "hgvsWellDefined": "ENSP00000359114.3:p.Glu315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "referenceAllele": "A",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000427239.5:c.981A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408640.1:p.Glu327Asp",
        "hgvsWellDefined": "ENSP00000408640.1:p.Glu327Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1198,
          "endIntronDirection": "+",
          "endIntronOffset": 650,
          "referenceAllele": "A",
          "start": 1198,
          "startIntronDirection": "+",
          "startIntronOffset": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000512756.5:c.897+650A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426533.1:n.897+650A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "A",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000635193.1:c.263A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "A",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.1:c.828A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:p.Glu276Asp",
        "hgvsWellDefined": "NP_001177638.1:p.Glu276Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3065784117",
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "A",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.3:c.945A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:p.Glu315Asp",
        "hgvsWellDefined": "NP_001845.3:p.Glu315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.2:c.981A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:p.Glu327Asp",
        "hgvsWellDefined": "NP_542196.2:p.Glu327Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1215,
          "endIntronDirection": "+",
          "endIntronOffset": 650,
          "referenceAllele": "A",
          "start": 1215,
          "startIntronDirection": "+",
          "startIntronOffset": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.3:c.897+650A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:n.897+650A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "A",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540719.1:c.945A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539021.1:p.Glu315Asp",
        "hgvsWellDefined": "XP_011539021.1:p.Glu315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "A",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540721.1:c.-1484A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539023.1:n.-1484A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1343,
          "referenceAllele": "A",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XR_946545.1:n.1343A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "A",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.1:n.1263A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1499,
          "referenceAllele": "A",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000334.1:c.1098A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855823.1:p.Glu366Asp",
        "hgvsWellDefined": "XP_016855823.1:p.Glu366Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "referenceAllele": "A",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000335.1:c.1092A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855824.1:p.Glu364Asp",
        "hgvsWellDefined": "XP_016855824.1:p.Glu364Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "A",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000336.1:c.1098A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855825.1:p.Glu366Asp",
        "hgvsWellDefined": "XP_016855825.1:p.Glu366Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556715"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3065784117",
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "A",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.4:c.945A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:p.Glu315Asp",
        "hgvsWellDefined": "NP_001845.3:p.Glu315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665209",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.945A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.945A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:p.Glu315Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:p.Glu315Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "endIntronDirection": "+",
          "endIntronOffset": 650,
          "referenceAllele": "A",
          "start": 1241,
          "startIntronDirection": "+",
          "startIntronOffset": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.4:c.897+650A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:n.897+650A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "A",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.2:n.1289A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1172,
          "referenceAllele": "A",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.2:c.828A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:p.Glu276Asp",
        "hgvsWellDefined": "NP_001177638.1:p.Glu276Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1325,
          "referenceAllele": "A",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.3:c.981A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:p.Glu327Asp",
        "hgvsWellDefined": "NP_542196.2:p.Glu327Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729046"
    }
  ],
  "type": "nucleotide"
}