{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1597511",
  "communityStandardTitle": [
    "NM_001145122.2(CAPN14):c.1249C>T (p.Leu417Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=719843[alleleid]",
        "alleleId": 719843,
        "preferredName": "NM_001145122.2(CAPN14):c.1249C>T (p.Leu417Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/717612",
        "RCV": [
          "RCV000890433",
          "RCV001260194"
        ],
        "variationId": 717612
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-31414830-G-A",
        "id": "2-31414830-G-A",
        "variant": "2:31414830 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.31414830G>A?assembly=hg19",
        "id": "chr2:g.31414830G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.31191964G>A?assembly=hg38",
        "id": "chr2:g.31191964G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/181906086",
        "rs": 181906086
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-31414830-G-A?dataset=gnomad_r2_1",
        "id": "2-31414830-G-A",
        "variant": "2:31414830 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-31191964-G-A?dataset=gnomad_r3",
        "id": "2-31191964-G-A",
        "variant": "2:31191964 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-31191964-G-A?dataset=gnomad_r4",
        "id": "2-31191964-G-A",
        "variant": "2:31191964 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 31191964,
          "referenceAllele": "G",
          "start": 31191963
        }
      ],
      "hgvs": [
        "NC_000002.12:g.31191964G>A",
        "CM000664.2:g.31191964G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 31414830,
          "referenceAllele": "G",
          "start": 31414829
        }
      ],
      "hgvs": [
        "NC_000002.11:g.31414830G>A",
        "CM000664.1:g.31414830G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 31268334,
          "referenceAllele": "G",
          "start": 31268333
        }
      ],
      "hgvs": [
        "NC_000002.10:g.31268334G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1361,
          "referenceAllele": "C",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "ENST00000403897.4:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385247.3:p.Leu417Phe",
        "hgvsWellDefined": "ENSP00000385247.3:p.Leu417Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754069",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403897.4:c.1249C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001145122.2:c.1249C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385247.3:p.Leu417Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001138594.1:p.Leu417Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1356,
          "referenceAllele": "C",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "ENST00000398824.6:c.*680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381805.2:n.*680C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "ENST00000403897.3:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385247.3:p.Leu417Phe",
        "hgvsWellDefined": "ENSP00000385247.3:p.Leu417Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915982460",
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "NM_001145122.1:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138594.1:p.Leu417Phe",
        "hgvsWellDefined": "NP_001138594.1:p.Leu417Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "referenceAllele": "C",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "XM_006712022.2:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712085.1:p.Leu241Phe",
        "hgvsWellDefined": "XP_006712085.1:p.Leu241Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "XM_011532863.1:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531165.1:p.Leu417Phe",
        "hgvsWellDefined": "XP_011531165.1:p.Leu417Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "XM_011532864.1:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531166.1:p.Leu417Phe",
        "hgvsWellDefined": "XP_011531166.1:p.Leu417Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "XM_011532865.1:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531167.1:p.Leu417Phe",
        "hgvsWellDefined": "XP_011531167.1:p.Leu417Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1254,
          "referenceAllele": "C",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "XM_011532866.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531168.1:p.Leu241Phe",
        "hgvsWellDefined": "XP_011531168.1:p.Leu241Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "XR_939683.1:n.1391C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "XR_939684.1:n.1391C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134380"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827092007",
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "NM_001321270.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308199.1:p.Leu241Phe",
        "hgvsWellDefined": "NP_001308199.1:p.Leu241Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "XM_011532863.2:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531165.1:p.Leu417Phe",
        "hgvsWellDefined": "XP_011531165.1:p.Leu417Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "XM_011532864.3:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531166.1:p.Leu417Phe",
        "hgvsWellDefined": "XP_011531166.1:p.Leu417Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "XM_011532866.2:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531168.1:p.Leu241Phe",
        "hgvsWellDefined": "XP_011531168.1:p.Leu241Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "XR_939683.2:n.1397C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "XR_939684.2:n.1397C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915982460",
      "coordinates": [
        {
          "allele": "T",
          "end": 1361,
          "referenceAllele": "C",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "NM_001145122.2:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138594.1:p.Leu417Phe",
        "hgvsWellDefined": "NP_001138594.1:p.Leu417Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403897.4:c.1249C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001145122.2:c.1249C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385247.3:p.Leu417Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001138594.1:p.Leu417Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827092007",
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016664",
      "geneNCBI_id": 440854,
      "geneSymbol": "CAPN14",
      "hgvs": [
        "NM_001321270.2:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308199.1:p.Leu241Phe",
        "hgvsWellDefined": "NP_001308199.1:p.Leu241Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717931"
    }
  ],
  "type": "nucleotide"
}