{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346207535",
  "communityStandardTitle": [
    "NM_002437.5(MPV17):c.388G>C (p.Ala130Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1330234[alleleid]",
        "alleleId": 1330234,
        "preferredName": "NM_002437.5(MPV17):c.388G>C (p.Ala130Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1339192",
        "RCV": [
          "RCV001823646"
        ],
        "variationId": 1339192
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27535102C>G?assembly=hg19",
        "id": "chr2:g.27535102C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27312234C>G?assembly=hg38",
        "id": "chr2:g.27312234C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1382428056",
        "rs": 1382428056
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27535102-C-G?dataset=gnomad_r2_1",
        "id": "2-27535102-C-G",
        "variant": "2:27535102 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27312234-C-G?dataset=gnomad_r4",
        "id": "2-27312234-C-G",
        "variant": "2:27312234 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 27312234,
          "referenceAllele": "C",
          "start": 27312233
        }
      ],
      "hgvs": [
        "NC_000002.12:g.27312234C>G",
        "CM000664.2:g.27312234C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 27535102,
          "referenceAllele": "C",
          "start": 27535101
        }
      ],
      "hgvs": [
        "NC_000002.11:g.27535102C>G",
        "CM000664.1:g.27535102C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 27388606,
          "referenceAllele": "C",
          "start": 27388605
        }
      ],
      "hgvs": [
        "NC_000002.10:g.27388606C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15330,
          "referenceAllele": "G",
          "start": 15329
        }
      ],
      "hgvs": [
        "NG_008075.1:g.15330G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "hgvs": [
        "NG_033055.1:g.1029G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005387"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000380044.6:c.388G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369383.1:p.Ala130Pro",
        "hgvsWellDefined": "ENSP00000369383.1:p.Ala130Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380044.6:c.388G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002437.5:c.388G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369383.1:p.Ala130Pro"
          },
          "RefSeq": {
            "hgvs": "NP_002428.1:p.Ala130Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000233545.6:c.388G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233545.2:p.Ala130Pro",
        "hgvsWellDefined": "ENSP00000233545.2:p.Ala130Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1450,
          "referenceAllele": "G",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000357186.10:c.220G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349713.6:p.Ala74Pro",
        "hgvsWellDefined": "ENSP00000349713.6:p.Ala74Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "G",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000380044.5:c.388G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369383.1:p.Ala130Pro",
        "hgvsWellDefined": "ENSP00000369383.1:p.Ala130Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "referenceAllele": "G",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000402310.5:c.388G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383955.1:p.Ala130Pro",
        "hgvsWellDefined": "ENSP00000383955.1:p.Ala130Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "endIntronDirection": "+",
          "endIntronOffset": 260,
          "referenceAllele": "G",
          "start": 375,
          "startIntronDirection": "+",
          "startIntronOffset": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000402722.5:c.*40+260G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386000.1:n.*40+260G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000403262.6:c.388G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385671.1:p.Ala130Pro",
        "hgvsWellDefined": "ENSP00000385671.1:p.Ala130Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000405076.5:c.199G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385175.1:p.Ala67Pro",
        "hgvsWellDefined": "ENSP00000385175.1:p.Ala67Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000405983.5:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384586.1:p.Ala145Pro",
        "hgvsWellDefined": "ENSP00000384586.1:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280500"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000415514.5:c.*189G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388043.1:n.*189G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000426513.6:c.*53G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403824.2:n.*53G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 538,
          "referenceAllele": "G",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000428910.5:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405235.1:p.Ala104Pro",
        "hgvsWellDefined": "ENSP00000405235.1:p.Ala104Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 222,
          "referenceAllele": "G",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000430991.5:c.222G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 416,
          "referenceAllele": "G",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000475085.1:n.416G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1154,
          "referenceAllele": "G",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000616707.1:n.1154G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 661,
          "referenceAllele": "G",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000617583.4:n.661G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 61,
          "referenceAllele": "G",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000620797.4:n.61G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 691,
          "referenceAllele": "G",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000621183.4:n.691G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000621470.4:n.651G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573081825",
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "G",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NM_002437.4:c.388G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002428.1:p.Ala130Pro",
        "hgvsWellDefined": "NP_002428.1:p.Ala130Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_005264326.2:c.388G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264383.1:p.Ala130Pro",
        "hgvsWellDefined": "XP_005264383.1:p.Ala130Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2987,
          "referenceAllele": "G",
          "start": 2986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_005264327.2:c.229G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264384.1:p.Ala77Pro",
        "hgvsWellDefined": "XP_005264384.1:p.Ala77Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 596,
          "referenceAllele": "G",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_006712021.2:c.340G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712084.1:p.Ala114Pro",
        "hgvsWellDefined": "XP_006712084.1:p.Ala114Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_005264326.4:c.388G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264383.1:p.Ala130Pro",
        "hgvsWellDefined": "XP_005264383.1:p.Ala130Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 596,
          "referenceAllele": "G",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_006712021.3:c.340G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712084.1:p.Ala114Pro",
        "hgvsWellDefined": "XP_006712084.1:p.Ala114Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3673,
          "referenceAllele": "G",
          "start": 3672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004150.1:c.370G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859639.1:p.Ala124Pro",
        "hgvsWellDefined": "XP_016859639.1:p.Ala124Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004151.1:c.340G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859640.1:p.Ala114Pro",
        "hgvsWellDefined": "XP_016859640.1:p.Ala114Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004152.1:c.229G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859641.1:p.Ala77Pro",
        "hgvsWellDefined": "XP_016859641.1:p.Ala77Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 621,
          "referenceAllele": "G",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_024452913.1:c.340G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308681.1:p.Ala114Pro",
        "hgvsWellDefined": "XP_024308681.1:p.Ala114Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573081825",
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NM_002437.5:c.388G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002428.1:p.Ala130Pro",
        "hgvsWellDefined": "NP_002428.1:p.Ala130Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380044.6:c.388G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002437.5:c.388G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369383.1:p.Ala130Pro"
          },
          "RefSeq": {
            "hgvs": "NP_002428.1:p.Ala130Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}