{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA261131",
  "communityStandardTitle": [
    "NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48064[alleleid]",
        "alleleId": 48064,
        "preferredName": "NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39465",
        "RCV": [
          "RCV000032661",
          "RCV000437344"
        ],
        "variationId": 39465
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.121436451T>C?assembly=hg19",
        "id": "chr10:g.121436451T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.119676939T>C?assembly=hg38",
        "id": "chr10:g.119676939T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514507",
        "rs": 397514507
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 119676939,
          "referenceAllele": "T",
          "start": 119676938
        }
      ],
      "hgvs": [
        "NC_000010.11:g.119676939T>C",
        "CM000672.2:g.119676939T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 121436451,
          "referenceAllele": "T",
          "start": 121436450
        }
      ],
      "hgvs": [
        "NC_000010.10:g.121436451T>C",
        "CM000672.1:g.121436451T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 121426441,
          "referenceAllele": "T",
          "start": 121426440
        }
      ],
      "hgvs": [
        "NC_000010.9:g.121426441T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30570,
          "referenceAllele": "T",
          "start": 30569
        }
      ],
      "hgvs": [
        "NG_016125.1:g.30570T>C",
        "LRG_742:g.30570T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002965"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1681,
          "referenceAllele": "T",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "ENST00000369085.8:c.1385T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358081.4:p.Leu462Pro",
        "hgvsWellDefined": "ENSP00000358081.4:p.Leu462Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369085.8:c.1385T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004281.4:c.1385T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358081.4:p.Leu462Pro"
          },
          "RefSeq": {
            "hgvs": "NP_004272.2:p.Leu462Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "referenceAllele": "T",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "ENST00000369085.7:c.1385T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358081.3:p.Leu462Pro",
        "hgvsWellDefined": "ENSP00000358081.3:p.Leu462Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093348",
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "referenceAllele": "T",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "NM_004281.3:c.1385T>C",
        "LRG_742t1:c.1385T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004272.2:p.Leu462Pro",
        "hgvsWellDefined": "NP_004272.2:p.Leu462Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1711,
          "referenceAllele": "T",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "XM_005270287.1:c.1382T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270344.1:p.Leu461Pro",
        "hgvsWellDefined": "XP_005270344.1:p.Leu461Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "XM_005270287.2:c.1382T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270344.1:p.Leu461Pro",
        "hgvsWellDefined": "XP_005270344.1:p.Leu461Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093348",
      "coordinates": [
        {
          "allele": "C",
          "end": 1681,
          "referenceAllele": "T",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "NM_004281.4:c.1385T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004272.2:p.Leu462Pro",
        "hgvsWellDefined": "NP_004272.2:p.Leu462Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369085.8:c.1385T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004281.4:c.1385T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358081.4:p.Leu462Pro"
          },
          "RefSeq": {
            "hgvs": "NP_004272.2:p.Leu462Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}