{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043363",
  "communityStandardTitle": [
    "NM_000530.8(MPZ):c.699T>G (p.Ser233Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360806[alleleid]",
        "alleleId": 360806,
        "preferredName": "NM_000530.8(MPZ):c.699T>G (p.Ser233Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374017",
        "RCV": [
          "RCV000414872",
          "RCV000415393",
          "RCV001196260"
        ],
        "variationId": 374017
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.161275714A>C?assembly=hg19",
        "id": "chr1:g.161275714A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.161305924A>C?assembly=hg38",
        "id": "chr1:g.161305924A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518839",
        "rs": 1057518839
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 161305924,
          "referenceAllele": "A",
          "start": 161305923
        }
      ],
      "hgvs": [
        "NC_000001.11:g.161305924A>C",
        "CM000663.2:g.161305924A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 161275714,
          "referenceAllele": "A",
          "start": 161275713
        }
      ],
      "hgvs": [
        "NC_000001.10:g.161275714A>C",
        "CM000663.1:g.161275714A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 159542338,
          "referenceAllele": "A",
          "start": 159542337
        }
      ],
      "hgvs": [
        "NC_000001.9:g.159542338A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9049,
          "referenceAllele": "T",
          "start": 9048
        }
      ],
      "hgvs": [
        "NG_008055.1:g.9049T>G",
        "LRG_256:g.9049T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000810"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "referenceAllele": "T",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000526189.3:c.618T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488104.2:p.Ser206Arg",
        "hgvsWellDefined": "ENSP00000488104.2:p.Ser206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "T",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000533357.5:c.699T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432943.1:p.Ser233Arg",
        "hgvsWellDefined": "ENSP00000432943.1:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533357.5:c.699T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000530.8:c.699T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432943.1:p.Ser233Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000521.2:p.Ser233Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 679,
          "referenceAllele": "T",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000672287.2:c.111T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499818.2:p.Ser37Arg",
        "hgvsWellDefined": "ENSP00000499818.2:p.Ser37Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "T",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000672602.2:c.699T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500814.2:p.Ser233Arg",
        "hgvsWellDefined": "ENSP00000500814.2:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773429"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "T",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000674861.1:n.762T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 748,
          "referenceAllele": "T",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000463290.5:c.699T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431538.1:p.Ser233Arg",
        "hgvsWellDefined": "ENSP00000431538.1:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 289,
          "referenceAllele": "T",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000476410.1:n.289T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "referenceAllele": "T",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000488271.1:n.137T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326616"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 679,
          "referenceAllele": "T",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000491222.5:c.111T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431441.1:p.Ser37Arg",
        "hgvsWellDefined": "ENSP00000431441.1:p.Ser37Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328872"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000526189.2:c.362T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 766,
          "referenceAllele": "T",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000533357.4:c.699T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432943.1:p.Ser233Arg",
        "hgvsWellDefined": "ENSP00000432943.1:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407182",
      "coordinates": [
        {
          "allele": "G",
          "end": 766,
          "referenceAllele": "T",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_000530.6:c.699T>G",
        "LRG_256t1:c.699T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000521.2:p.Ser233Arg",
        "hgvsWellDefined": "NP_000521.2:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407182",
      "coordinates": [
        {
          "allele": "G",
          "end": 766,
          "referenceAllele": "T",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_000530.7:c.699T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000521.2:p.Ser233Arg",
        "hgvsWellDefined": "NP_000521.2:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916021536",
      "coordinates": [
        {
          "allele": "G",
          "end": 766,
          "referenceAllele": "T",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_001315491.1:c.699T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001302420.1:p.Ser233Arg",
        "hgvsWellDefined": "NP_001302420.1:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 709,
          "endIntronDirection": "+",
          "endIntronOffset": 184,
          "referenceAllele": "T",
          "start": 709,
          "startIntronDirection": "+",
          "startIntronOffset": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "XM_017001321.2:c.675+184T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856810.1:n.675+184T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407182",
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "T",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_000530.8:c.699T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000521.2:p.Ser233Arg",
        "hgvsWellDefined": "NP_000521.2:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533357.5:c.699T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000530.8:c.699T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432943.1:p.Ser233Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000521.2:p.Ser233Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916021536",
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "T",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_001315491.2:c.699T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001302420.1:p.Ser233Arg",
        "hgvsWellDefined": "NP_001302420.1:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684142"
    }
  ],
  "type": "nucleotide"
}