{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350649755",
  "communityStandardTitle": [
    "NM_015680.6(CNPPD1):c.1124C>A (p.Pro375His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2462569[alleleid]",
        "alleleId": 2462569,
        "preferredName": "NM_015680.6(CNPPD1):c.1124C>A (p.Pro375His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2483427",
        "RCV": [
          "RCV004278519"
        ],
        "variationId": 2483427
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220037417G>T?assembly=hg19",
        "id": "chr2:g.220037417G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219172695G>T?assembly=hg38",
        "id": "chr2:g.219172695G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760364743",
        "rs": 760364743
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219172695,
          "referenceAllele": "G",
          "start": 219172694
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219172695G>T",
        "CM000664.2:g.219172695G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 220037417,
          "referenceAllele": "G",
          "start": 220037416
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220037417G>T",
        "CM000664.1:g.220037417G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219745661,
          "referenceAllele": "G",
          "start": 219745660
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219745661G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1221,
          "referenceAllele": "C",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "ENST00000360507.10:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353698.5:p.Pro375His",
        "hgvsWellDefined": "ENSP00000353698.5:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360507.10:c.1124C>A"
          },
          "RefSeq": {
            "hgvs": "NM_015680.6:c.1124C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353698.5:p.Pro375His"
          },
          "RefSeq": {
            "hgvs": "NP_056495.4:p.Pro375His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "ENST00000360507.9:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353698.5:p.Pro375His",
        "hgvsWellDefined": "ENSP00000353698.5:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "ENST00000409789.5:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386277.1:p.Pro375His",
        "hgvsWellDefined": "ENSP00000386277.1:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1276,
          "referenceAllele": "C",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NM_015680.4:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056495.3:p.Pro375His",
        "hgvsWellDefined": "NP_056495.3:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "C",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "XM_005246462.2:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246519.1:p.Pro375His",
        "hgvsWellDefined": "XP_005246519.1:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1544,
          "referenceAllele": "C",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "XM_005246463.3:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246520.1:p.Pro375His",
        "hgvsWellDefined": "XP_005246520.1:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1668,
          "referenceAllele": "C",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "XM_006712419.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712482.1:p.Pro375His",
        "hgvsWellDefined": "XP_006712482.1:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NM_001321389.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308318.1:p.Pro375His",
        "hgvsWellDefined": "NP_001308318.1:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NM_001321390.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308319.1:p.Pro375His",
        "hgvsWellDefined": "NP_001308319.1:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NM_001321391.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308320.1:p.Pro375His",
        "hgvsWellDefined": "NP_001308320.1:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NM_015680.5:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056495.3:p.Pro375His",
        "hgvsWellDefined": "NP_056495.3:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NR_135628.1:n.1169C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NR_135629.1:n.1227C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "XM_024452790.1:c.1154C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308558.1:p.Pro385His",
        "hgvsWellDefined": "XP_024308558.1:p.Pro385His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580379211",
      "coordinates": [
        {
          "allele": "A",
          "end": 1221,
          "referenceAllele": "C",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NM_015680.6:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056495.4:p.Pro375His",
        "hgvsWellDefined": "NP_056495.4:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360507.10:c.1124C>A"
          },
          "RefSeq": {
            "hgvs": "NM_015680.6:c.1124C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353698.5:p.Pro375His"
          },
          "RefSeq": {
            "hgvs": "NP_056495.4:p.Pro375His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827107836",
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NM_001321390.2:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308319.2:p.Pro375His",
        "hgvsWellDefined": "NP_001308319.2:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827107877",
      "coordinates": [
        {
          "allele": "A",
          "end": 1214,
          "referenceAllele": "C",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NM_001321391.2:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308320.2:p.Pro375His",
        "hgvsWellDefined": "NP_001308320.2:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NR_135628.2:n.1152C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NR_135629.2:n.1159C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827107786",
      "coordinates": [
        {
          "allele": "A",
          "end": 1267,
          "referenceAllele": "C",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025220",
      "geneNCBI_id": 27013,
      "geneSymbol": "CNPPD1",
      "hgvs": [
        "NM_001321389.2:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308318.2:p.Pro375His",
        "hgvsWellDefined": "NP_001308318.2:p.Pro375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781864"
    }
  ],
  "type": "nucleotide"
}