{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141581148",
  "communityStandardTitle": [
    "NM_000530.8(MPZ):c.499G= (p.Gly167=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913586",
        "rs": 121913586
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 161306414,
          "referenceAllele": "C",
          "start": 161306413
        }
      ],
      "hgvs": [
        "NC_000001.11:g.161306414C=",
        "CM000663.2:g.161306414C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 161276204,
          "referenceAllele": "C",
          "start": 161276203
        }
      ],
      "hgvs": [
        "NC_000001.10:g.161276204C=",
        "CM000663.1:g.161276204C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 159542828,
          "referenceAllele": "C",
          "start": 159542827
        }
      ],
      "hgvs": [
        "NC_000001.9:g.159542828C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8559,
          "referenceAllele": "G",
          "start": 8558
        }
      ],
      "hgvs": [
        "NG_008055.1:g.8559G=",
        "LRG_256:g.8559G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000810"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000526189.3:c.418G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488104.2:p.Gly140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000533357.5:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432943.1:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533357.5:c.499G="
          },
          "RefSeq": {
            "hgvs": "NM_000530.8:c.499G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432943.1:p.Gly167="
          },
          "RefSeq": {
            "hgvs": "NP_000521.2:p.Gly167="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000672287.2:c.-90G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499818.2:n.-90G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000672602.2:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500814.2:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773429"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000674861.1:n.562G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000463290.5:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431538.1:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000491222.5:c.-90G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431441.1:n.-90G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328872"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 162,
          "referenceAllele": "G",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000526189.2:c.162G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000533357.4:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432943.1:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916392",
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_000530.6:c.499G=",
        "LRG_256t1:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000521.2:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916392",
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_000530.7:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000521.2:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006588"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_001315491.1:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001302420.1:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "XM_017001321.2:c.529G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856810.1:p.Gly177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916392",
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_000530.8:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000521.2:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533357.5:c.499G="
          },
          "RefSeq": {
            "hgvs": "NM_000530.8:c.499G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432943.1:p.Gly167="
          },
          "RefSeq": {
            "hgvs": "NP_000521.2:p.Gly167="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_001315491.2:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001302420.1:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684142"
    }
  ],
  "type": "nucleotide"
}