{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406495405",
  "communityStandardTitle": [
    "NM_024301.5(FKRP):c.478G>T (p.Val160Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=958664[alleleid]",
        "alleleId": 958664,
        "preferredName": "NM_024301.5(FKRP):c.478G>T (p.Val160Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/971369",
        "RCV": [
          "RCV001247136"
        ],
        "variationId": 971369
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.47259185G>T?assembly=hg19",
        "id": "chr19:g.47259185G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.46755928G>T?assembly=hg38",
        "id": "chr19:g.46755928G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1314476567",
        "rs": 1314476567
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-46755928-G-T?dataset=gnomad_r4",
        "id": "19-46755928-G-T",
        "variant": "19:46755928 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 46755928,
          "referenceAllele": "G",
          "start": 46755927
        }
      ],
      "hgvs": [
        "NC_000019.10:g.46755928G>T",
        "CM000681.2:g.46755928G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 47259185,
          "referenceAllele": "G",
          "start": 47259184
        }
      ],
      "hgvs": [
        "NC_000019.9:g.47259185G>T",
        "CM000681.1:g.47259185G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 51951025,
          "referenceAllele": "G",
          "start": 51951024
        }
      ],
      "hgvs": [
        "NC_000019.8:g.51951025G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14883,
          "referenceAllele": "G",
          "start": 14882
        }
      ],
      "hgvs": [
        "NG_008898.2:g.14883G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001290"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000318584.10:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326570.4:p.Val160Phe",
        "hgvsWellDefined": "ENSP00000326570.4:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746230",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.478G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.478G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Val160Phe"
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Val160Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000318584.9:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326570.4:p.Val160Phe",
        "hgvsWellDefined": "ENSP00000326570.4:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000391909.7:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375776.2:p.Val160Phe",
        "hgvsWellDefined": "ENSP00000375776.2:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000594467.5:c.49G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471971.1:p.Val17Phe",
        "hgvsWellDefined": "ENSP00000471971.1:p.Val17Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "endIntronDirection": "-",
          "endIntronOffset": 5904,
          "referenceAllele": "G",
          "start": 246,
          "startIntronDirection": "-",
          "startIntronOffset": 5905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000597339.5:n.247-5905G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 7263,
          "referenceAllele": "G",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 7262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000600646.5:n.247+7263G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000601299.5:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470103.1:p.Val160Phe",
        "hgvsWellDefined": "ENSP00000470103.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397665"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094169",
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "G",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.2:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Val160Phe",
        "hgvsWellDefined": "NP_001034974.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139763761",
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.4:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Val160Phe",
        "hgvsWellDefined": "NP_077277.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259247.1:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Val160Phe",
        "hgvsWellDefined": "XP_005259304.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259248.1:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259305.1:p.Val160Phe",
        "hgvsWellDefined": "XP_005259305.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "G",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259249.3:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259306.1:p.Val160Phe",
        "hgvsWellDefined": "XP_005259306.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 873,
          "referenceAllele": "G",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259250.3:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259307.1:p.Val160Phe",
        "hgvsWellDefined": "XP_005259307.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527301.1:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525603.1:p.Val160Phe",
        "hgvsWellDefined": "XP_011525603.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1158,
          "referenceAllele": "G",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527302.1:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525604.1:p.Val160Phe",
        "hgvsWellDefined": "XP_011525604.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527303.1:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525605.1:p.Val160Phe",
        "hgvsWellDefined": "XP_011525605.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 909,
          "referenceAllele": "G",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527304.1:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525606.1:p.Val160Phe",
        "hgvsWellDefined": "XP_011525606.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 755,
          "referenceAllele": "G",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527305.1:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525607.1:p.Val160Phe",
        "hgvsWellDefined": "XP_011525607.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527306.1:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Val160Phe",
        "hgvsWellDefined": "XP_011525608.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527307.1:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525609.1:p.Val160Phe",
        "hgvsWellDefined": "XP_011525609.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "G",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259247.2:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Val160Phe",
        "hgvsWellDefined": "XP_005259304.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259248.2:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259305.1:p.Val160Phe",
        "hgvsWellDefined": "XP_005259305.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259249.4:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259306.1:p.Val160Phe",
        "hgvsWellDefined": "XP_005259306.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527306.2:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Val160Phe",
        "hgvsWellDefined": "XP_011525608.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 983,
          "referenceAllele": "G",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_017027297.2:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882786.1:p.Val160Phe",
        "hgvsWellDefined": "XP_016882786.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_024451707.1:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307475.1:p.Val160Phe",
        "hgvsWellDefined": "XP_024307475.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094169",
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.3:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Val160Phe",
        "hgvsWellDefined": "NP_001034974.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139763761",
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.5:c.478G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Val160Phe",
        "hgvsWellDefined": "NP_077277.1:p.Val160Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698678",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.478G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.478G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Val160Phe"
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Val160Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}