{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343905",
  "communityStandardTitle": [
    "NM_000530.8(MPZ):c.337G>T (p.Val113Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49442[alleleid]",
        "alleleId": 49442,
        "preferredName": "NM_000530.8(MPZ):c.337G>T (p.Val113Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41020",
        "RCV": [
          "RCV000033917",
          "RCV000657923",
          "RCV000789425",
          "RCV001208935"
        ],
        "variationId": 41020
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.161276609C>A?assembly=hg19",
        "id": "chr1:g.161276609C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.161306819C>A?assembly=hg38",
        "id": "chr1:g.161306819C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281865126",
        "rs": 281865126
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-161306819-C-A?dataset=gnomad_r4",
        "id": "1-161306819-C-A",
        "variant": "1:161306819 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 161306819,
          "referenceAllele": "C",
          "start": 161306818
        }
      ],
      "hgvs": [
        "NC_000001.11:g.161306819C>A",
        "CM000663.2:g.161306819C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 161276609,
          "referenceAllele": "C",
          "start": 161276608
        }
      ],
      "hgvs": [
        "NC_000001.10:g.161276609C>A",
        "CM000663.1:g.161276609C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 159543233,
          "referenceAllele": "C",
          "start": 159543232
        }
      ],
      "hgvs": [
        "NC_000001.9:g.159543233C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8154,
          "referenceAllele": "G",
          "start": 8153
        }
      ],
      "hgvs": [
        "NG_008055.1:g.8154G>T",
        "LRG_256:g.8154G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000810"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000526189.3:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488104.2:p.Val113Phe",
        "hgvsWellDefined": "ENSP00000488104.2:p.Val113Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000533357.5:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432943.1:p.Val113Phe",
        "hgvsWellDefined": "ENSP00000432943.1:p.Val113Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533357.5:c.337G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000530.8:c.337G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432943.1:p.Val113Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000521.2:p.Val113Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000672287.2:c.-252G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499818.2:n.-252G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000672602.2:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500814.2:p.Val113Phe",
        "hgvsWellDefined": "ENSP00000500814.2:p.Val113Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000674861.1:n.400G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000463290.5:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431538.1:p.Val113Phe",
        "hgvsWellDefined": "ENSP00000431538.1:p.Val113Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000491222.5:c.-252G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431441.1:n.-252G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000526189.2:c.81G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "ENST00000533357.4:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432943.1:p.Val113Phe",
        "hgvsWellDefined": "ENSP00000432943.1:p.Val113Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343907",
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_000530.6:c.337G>T",
        "LRG_256t1:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000521.2:p.Val113Phe",
        "hgvsWellDefined": "NP_000521.2:p.Val113Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343907",
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_000530.7:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000521.2:p.Val113Phe",
        "hgvsWellDefined": "NP_000521.2:p.Val113Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916021437",
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_001315491.1:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001302420.1:p.Val113Phe",
        "hgvsWellDefined": "NP_001302420.1:p.Val113Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "XM_017001321.2:c.367G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856810.1:p.Val123Phe",
        "hgvsWellDefined": "XP_016856810.1:p.Val123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343907",
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_000530.8:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000521.2:p.Val113Phe",
        "hgvsWellDefined": "NP_000521.2:p.Val113Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533357.5:c.337G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000530.8:c.337G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432943.1:p.Val113Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000521.2:p.Val113Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916021437",
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NM_001315491.2:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001302420.1:p.Val113Phe",
        "hgvsWellDefined": "NP_001302420.1:p.Val113Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684142"
    }
  ],
  "type": "nucleotide"
}