{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257736",
  "communityStandardTitle": [
    "NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4392266",
        "active": true,
        "id": "COSM4392266"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32211[alleleid]",
        "alleleId": 32211,
        "preferredName": "NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17172",
        "RCV": [
          "RCV000018712",
          "RCV002274883"
        ],
        "variationId": 17172
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.47410706G>A?assembly=hg19",
        "id": "chr21:g.47410706G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.45990792G>A?assembly=hg38",
        "id": "chr21:g.45990792G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912935",
        "rs": 121912935
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 45990792,
          "referenceAllele": "G",
          "start": 45990791
        }
      ],
      "hgvs": [
        "NC_000021.9:g.45990792G>A",
        "CM000683.2:g.45990792G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 47410706,
          "referenceAllele": "G",
          "start": 47410705
        }
      ],
      "hgvs": [
        "NC_000021.8:g.47410706G>A",
        "CM000683.1:g.47410706G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 46235134,
          "referenceAllele": "G",
          "start": 46235133
        }
      ],
      "hgvs": [
        "NC_000021.7:g.46235134G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14044,
          "referenceAllele": "G",
          "start": 14043
        }
      ],
      "hgvs": [
        "NG_008674.1:g.14044G>A",
        "LRG_475:g.14044G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001159"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1103,
          "referenceAllele": "G",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000361866.8:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355180.3:p.Gly341Asp",
        "hgvsWellDefined": "ENSP00000355180.3:p.Gly341Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361866.8:c.1022G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001848.3:c.1022G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355180.3:p.Gly341Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001839.2:p.Gly341Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000361866.7:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355180.3:p.Gly341Asp",
        "hgvsWellDefined": "ENSP00000355180.3:p.Gly341Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000612273.1:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483630.1:p.Gly341Asp",
        "hgvsWellDefined": "ENSP00000483630.1:p.Gly341Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098416",
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "G",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "NM_001848.2:c.1022G>A",
        "LRG_475t1:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001839.2:p.Gly341Asp",
        "hgvsWellDefined": "NP_001839.2:p.Gly341Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098416",
      "coordinates": [
        {
          "allele": "A",
          "end": 1103,
          "referenceAllele": "G",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "NM_001848.3:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001839.2:p.Gly341Asp",
        "hgvsWellDefined": "NP_001839.2:p.Gly341Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695385",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361866.8:c.1022G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001848.3:c.1022G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355180.3:p.Gly341Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001839.2:p.Gly341Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}