{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA212992",
  "communityStandardTitle": [
    "NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5438332"
      },
      {
        "active": false,
        "id": "COSM5438333"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32176[alleleid]",
        "alleleId": 32176,
        "preferredName": "NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17137",
        "RCV": [
          "RCV000018675",
          "RCV000292881",
          "RCV000332848",
          "RCV001705594",
          "RCV001582487",
          "RCV002276556",
          "RCV000252849",
          "RCV001510951"
        ],
        "variationId": 17137
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-103354138-A-G",
        "id": "1-103354138-A-G",
        "variant": "1:103354138 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.103354138A>G?assembly=hg19",
        "id": "chr1:g.103354138A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.102888582A>G?assembly=hg38",
        "id": "chr1:g.102888582A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1676486",
        "rs": 1676486
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-103354138-A-G?dataset=gnomad_r2_1",
        "id": "1-103354138-A-G",
        "variant": "1:103354138 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-102888582-A-G?dataset=gnomad_r3",
        "id": "1-102888582-A-G",
        "variant": "1:102888582 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-102888582-A-G?dataset=gnomad_r4",
        "id": "1-102888582-A-G",
        "variant": "1:102888582 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 102888582,
          "referenceAllele": "A",
          "start": 102888581
        }
      ],
      "hgvs": [
        "NC_000001.11:g.102888582A>G",
        "CM000663.2:g.102888582A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 103354138,
          "referenceAllele": "A",
          "start": 103354137
        }
      ],
      "hgvs": [
        "NC_000001.10:g.103354138A>G",
        "CM000663.1:g.103354138A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 103126726,
          "referenceAllele": "A",
          "start": 103126725
        }
      ],
      "hgvs": [
        "NC_000001.9:g.103126726A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224915,
          "referenceAllele": "T",
          "start": 224914
        }
      ],
      "hgvs": [
        "NG_008033.1:g.224915T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224915,
          "referenceAllele": "T",
          "start": 224914
        }
      ],
      "hgvs": [
        "NG_008033.2:g.224915T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673484"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4947,
          "referenceAllele": "T",
          "start": 4946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.9:c.4603T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:p.Ser1535Pro",
        "hgvsWellDefined": "ENSP00000359114.3:p.Ser1535Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.4603T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.4603T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:p.Ser1535Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:p.Ser1535Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4804,
          "referenceAllele": "T",
          "start": 4803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000353414.8:c.4486T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302551.6:p.Ser1496Pro",
        "hgvsWellDefined": "ENSP00000302551.6:p.Ser1496Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262967"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4957,
          "referenceAllele": "T",
          "start": 4956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000358392.6:c.4639T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351163.2:p.Ser1547Pro",
        "hgvsWellDefined": "ENSP00000351163.2:p.Ser1547Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4916,
          "referenceAllele": "T",
          "start": 4915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.7:c.4603T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:p.Ser1535Pro",
        "hgvsWellDefined": "ENSP00000359114.3:p.Ser1535Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4556,
          "referenceAllele": "T",
          "start": 4555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000512756.5:c.4255T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426533.1:p.Ser1419Pro",
        "hgvsWellDefined": "ENSP00000426533.1:p.Ser1419Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3937,
          "referenceAllele": "T",
          "start": 3936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000635193.1:c.3937T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826162255",
      "coordinates": [
        {
          "allele": "C",
          "end": 4804,
          "referenceAllele": "T",
          "start": 4803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.1:c.4486T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:p.Ser1496Pro",
        "hgvsWellDefined": "NP_001177638.1:p.Ser1496Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA212993",
      "coordinates": [
        {
          "allele": "C",
          "end": 4921,
          "referenceAllele": "T",
          "start": 4920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.3:c.4603T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:p.Ser1535Pro",
        "hgvsWellDefined": "NP_001845.3:p.Ser1535Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA212994",
      "coordinates": [
        {
          "allele": "C",
          "end": 4957,
          "referenceAllele": "T",
          "start": 4956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.2:c.4639T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:p.Ser1547Pro",
        "hgvsWellDefined": "NP_542196.2:p.Ser1547Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830122786",
      "coordinates": [
        {
          "allele": "C",
          "end": 4573,
          "referenceAllele": "T",
          "start": 4572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.3:c.4255T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:p.Ser1419Pro",
        "hgvsWellDefined": "NP_542197.3:p.Ser1419Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3004,
          "referenceAllele": "T",
          "start": 3003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540720.1:c.2836T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539022.1:p.Ser946Pro",
        "hgvsWellDefined": "XP_011539022.1:p.Ser946Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3937,
          "referenceAllele": "T",
          "start": 3936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540721.1:c.2191T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539023.1:p.Ser731Pro",
        "hgvsWellDefined": "XP_011539023.1:p.Ser731Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4937,
          "referenceAllele": "T",
          "start": 4936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.1:n.4937T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5157,
          "referenceAllele": "T",
          "start": 5156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000334.1:c.4756T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855823.1:p.Ser1586Pro",
        "hgvsWellDefined": "XP_016855823.1:p.Ser1586Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5151,
          "referenceAllele": "T",
          "start": 5150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000335.1:c.4750T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855824.1:p.Ser1584Pro",
        "hgvsWellDefined": "XP_016855824.1:p.Ser1584Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3635,
          "referenceAllele": "T",
          "start": 3634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000337.1:c.3154T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855826.1:p.Ser1052Pro",
        "hgvsWellDefined": "XP_016855826.1:p.Ser1052Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556716"
    },
    {
      "@id": "http://reg.genome.network/allele/PA212993",
      "coordinates": [
        {
          "allele": "C",
          "end": 4947,
          "referenceAllele": "T",
          "start": 4946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.4:c.4603T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:p.Ser1535Pro",
        "hgvsWellDefined": "NP_001845.3:p.Ser1535Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665209",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.4603T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.4603T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:p.Ser1535Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:p.Ser1535Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830122786",
      "coordinates": [
        {
          "allele": "C",
          "end": 4599,
          "referenceAllele": "T",
          "start": 4598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.4:c.4255T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:p.Ser1419Pro",
        "hgvsWellDefined": "NP_542197.3:p.Ser1419Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4963,
          "referenceAllele": "T",
          "start": 4962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.2:n.4963T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826162255",
      "coordinates": [
        {
          "allele": "C",
          "end": 4830,
          "referenceAllele": "T",
          "start": 4829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.2:c.4486T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:p.Ser1496Pro",
        "hgvsWellDefined": "NP_001177638.1:p.Ser1496Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA212994",
      "coordinates": [
        {
          "allele": "C",
          "end": 4983,
          "referenceAllele": "T",
          "start": 4982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.3:c.4639T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:p.Ser1547Pro",
        "hgvsWellDefined": "NP_542196.2:p.Ser1547Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729046"
    }
  ],
  "type": "nucleotide"
}