{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA221786",
  "communityStandardTitle": [
    "NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32212[alleleid]",
        "alleleId": 32212,
        "preferredName": "NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17173",
        "RCV": [
          "RCV000018713",
          "RCV000177135"
        ],
        "variationId": 17173
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.47404317A>G?assembly=hg19",
        "id": "chr21:g.47404317A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.45984403A>G?assembly=hg38",
        "id": "chr21:g.45984403A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912936",
        "rs": 121912936
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-45984403-A-G?dataset=gnomad_r4",
        "id": "21-45984403-A-G",
        "variant": "21:45984403 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 45984403,
          "referenceAllele": "A",
          "start": 45984402
        }
      ],
      "hgvs": [
        "NC_000021.9:g.45984403A>G",
        "CM000683.2:g.45984403A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 47404317,
          "referenceAllele": "A",
          "start": 47404316
        }
      ],
      "hgvs": [
        "NC_000021.8:g.47404317A>G",
        "CM000683.1:g.47404317A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 46228745,
          "referenceAllele": "A",
          "start": 46228744
        }
      ],
      "hgvs": [
        "NC_000021.7:g.46228745A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7655,
          "referenceAllele": "A",
          "start": 7654
        }
      ],
      "hgvs": [
        "NG_008674.1:g.7655A>G",
        "LRG_475:g.7655A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001159"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 443,
          "referenceAllele": "A",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000361866.8:c.362A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355180.3:p.Lys121Arg",
        "hgvsWellDefined": "ENSP00000355180.3:p.Lys121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361866.8:c.362A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001848.3:c.362A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355180.3:p.Lys121Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001839.2:p.Lys121Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 476,
          "referenceAllele": "A",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000361866.7:c.362A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355180.3:p.Lys121Arg",
        "hgvsWellDefined": "ENSP00000355180.3:p.Lys121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000612273.1:c.362A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483630.1:p.Lys121Arg",
        "hgvsWellDefined": "ENSP00000483630.1:p.Lys121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098440",
      "coordinates": [
        {
          "allele": "G",
          "end": 464,
          "referenceAllele": "A",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "NM_001848.2:c.362A>G",
        "LRG_475t1:c.362A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001839.2:p.Lys121Arg",
        "hgvsWellDefined": "NP_001839.2:p.Lys121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098440",
      "coordinates": [
        {
          "allele": "G",
          "end": 443,
          "referenceAllele": "A",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "NM_001848.3:c.362A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001839.2:p.Lys121Arg",
        "hgvsWellDefined": "NP_001839.2:p.Lys121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695385",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361866.8:c.362A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001848.3:c.362A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355180.3:p.Lys121Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001839.2:p.Lys121Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}