{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341155626",
  "communityStandardTitle": [
    "NM_001854.4(COL11A1):c.925T>G (p.Tyr309Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.103491142A>C?assembly=hg19",
        "id": "chr1:g.103491142A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.103025586A>C?assembly=hg38",
        "id": "chr1:g.103025586A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 103025586,
          "referenceAllele": "A",
          "start": 103025585
        }
      ],
      "hgvs": [
        "NC_000001.11:g.103025586A>C",
        "CM000663.2:g.103025586A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 103491142,
          "referenceAllele": "A",
          "start": 103491141
        }
      ],
      "hgvs": [
        "NC_000001.10:g.103491142A>C",
        "CM000663.1:g.103491142A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 103263730,
          "referenceAllele": "A",
          "start": 103263729
        }
      ],
      "hgvs": [
        "NC_000001.9:g.103263730A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87911,
          "referenceAllele": "T",
          "start": 87910
        }
      ],
      "hgvs": [
        "NG_008033.1:g.87911T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87911,
          "referenceAllele": "T",
          "start": 87910
        }
      ],
      "hgvs": [
        "NG_008033.2:g.87911T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673484"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.9:c.925T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:p.Tyr309Asp",
        "hgvsWellDefined": "ENSP00000359114.3:p.Tyr309Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.925T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.925T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:p.Tyr309Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:p.Tyr309Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1385,
          "referenceAllele": "T",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000461720.6:c.1078T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494909.1:p.Tyr360Asp",
        "hgvsWellDefined": "ENSP00000494909.1:p.Tyr360Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000644186.1:c.925T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493821.1:p.Tyr309Asp",
        "hgvsWellDefined": "ENSP00000493821.1:p.Tyr309Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1102,
          "referenceAllele": "T",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000645458.1:c.925T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494179.1:p.Tyr309Asp",
        "hgvsWellDefined": "ENSP00000494179.1:p.Tyr309Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000647280.1:c.925T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494583.1:p.Tyr309Asp",
        "hgvsWellDefined": "ENSP00000494583.1:p.Tyr309Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1126,
          "referenceAllele": "T",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000353414.8:c.808T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302551.6:p.Tyr270Asp",
        "hgvsWellDefined": "ENSP00000302551.6:p.Tyr270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1279,
          "referenceAllele": "T",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000358392.6:c.961T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351163.2:p.Tyr321Asp",
        "hgvsWellDefined": "ENSP00000351163.2:p.Tyr321Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1238,
          "referenceAllele": "T",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.7:c.925T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:p.Tyr309Asp",
        "hgvsWellDefined": "ENSP00000359114.3:p.Tyr309Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 961,
          "referenceAllele": "T",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000427239.5:c.961T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408640.1:p.Tyr321Asp",
        "hgvsWellDefined": "ENSP00000408640.1:p.Tyr321Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1198,
          "endIntronDirection": "+",
          "endIntronOffset": 630,
          "referenceAllele": "T",
          "start": 1198,
          "startIntronDirection": "+",
          "startIntronOffset": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000512756.5:c.897+630T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426533.1:n.897+630T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 243,
          "referenceAllele": "T",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000635193.1:c.243T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408062"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1126,
          "referenceAllele": "T",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.1:c.808T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:p.Tyr270Asp",
        "hgvsWellDefined": "NP_001177638.1:p.Tyr270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1243,
          "referenceAllele": "T",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.3:c.925T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:p.Tyr309Asp",
        "hgvsWellDefined": "NP_001845.3:p.Tyr309Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1279,
          "referenceAllele": "T",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.2:c.961T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:p.Tyr321Asp",
        "hgvsWellDefined": "NP_542196.2:p.Tyr321Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1215,
          "endIntronDirection": "+",
          "endIntronOffset": 630,
          "referenceAllele": "T",
          "start": 1215,
          "startIntronDirection": "+",
          "startIntronOffset": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.3:c.897+630T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:n.897+630T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1322,
          "referenceAllele": "T",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540719.1:c.925T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539021.1:p.Tyr309Asp",
        "hgvsWellDefined": "XP_011539021.1:p.Tyr309Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 243,
          "referenceAllele": "T",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540721.1:c.-1504T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539023.1:n.-1504T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1323,
          "referenceAllele": "T",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XR_946545.1:n.1323T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1243,
          "referenceAllele": "T",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.1:n.1243T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1479,
          "referenceAllele": "T",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000334.1:c.1078T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855823.1:p.Tyr360Asp",
        "hgvsWellDefined": "XP_016855823.1:p.Tyr360Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1473,
          "referenceAllele": "T",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000335.1:c.1072T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855824.1:p.Tyr358Asp",
        "hgvsWellDefined": "XP_016855824.1:p.Tyr358Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1480,
          "referenceAllele": "T",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000336.1:c.1078T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855825.1:p.Tyr360Asp",
        "hgvsWellDefined": "XP_016855825.1:p.Tyr360Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556715"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.4:c.925T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:p.Tyr309Asp",
        "hgvsWellDefined": "NP_001845.3:p.Tyr309Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665209",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.925T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.925T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:p.Tyr309Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:p.Tyr309Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1241,
          "endIntronDirection": "+",
          "endIntronOffset": 630,
          "referenceAllele": "T",
          "start": 1241,
          "startIntronDirection": "+",
          "startIntronOffset": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.4:c.897+630T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:n.897+630T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.2:n.1269T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1152,
          "referenceAllele": "T",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.2:c.808T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:p.Tyr270Asp",
        "hgvsWellDefined": "NP_001177638.1:p.Tyr270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "referenceAllele": "T",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.3:c.961T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:p.Tyr321Asp",
        "hgvsWellDefined": "NP_542196.2:p.Tyr321Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729046"
    }
  ],
  "type": "nucleotide"
}