{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341764053",
  "communityStandardTitle": [
    "NM_138959.3(VANGL1):c.821G>T (p.Arg274Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.116224993G>T?assembly=hg19",
        "id": "chr1:g.116224993G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.115682372G>T?assembly=hg38",
        "id": "chr1:g.115682372G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918219",
        "rs": 121918219
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115682372-G-T?dataset=gnomad_r4",
        "id": "1-115682372-G-T",
        "variant": "1:115682372 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 115682372,
          "referenceAllele": "G",
          "start": 115682371
        }
      ],
      "hgvs": [
        "NC_000001.11:g.115682372G>T",
        "CM000663.2:g.115682372G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 116224993,
          "referenceAllele": "G",
          "start": 116224992
        }
      ],
      "hgvs": [
        "NC_000001.10:g.116224993G>T",
        "CM000663.1:g.116224993G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 116026516,
          "referenceAllele": "G",
          "start": 116026515
        }
      ],
      "hgvs": [
        "NC_000001.9:g.116026516G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45420,
          "referenceAllele": "G",
          "start": 45419
        }
      ],
      "hgvs": [
        "NG_016548.1:g.45420G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003212"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "ENST00000355485.7:c.821G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347672.2:p.Arg274Leu",
        "hgvsWellDefined": "ENSP00000347672.2:p.Arg274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748675",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355485.7:c.821G>T"
          },
          "RefSeq": {
            "hgvs": "NM_138959.3:c.821G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347672.2:p.Arg274Leu"
          },
          "RefSeq": {
            "hgvs": "NP_620409.1:p.Arg274Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "ENST00000310260.7:c.821G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310800.3:p.Arg274Leu",
        "hgvsWellDefined": "ENSP00000310800.3:p.Arg274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "ENST00000355485.6:c.821G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347672.2:p.Arg274Leu",
        "hgvsWellDefined": "ENSP00000347672.2:p.Arg274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 833,
          "referenceAllele": "G",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "ENST00000369509.1:c.821G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358522.1:p.Arg274Leu",
        "hgvsWellDefined": "ENSP00000358522.1:p.Arg274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "ENST00000369510.8:c.815G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358523.3:p.Arg272Leu",
        "hgvsWellDefined": "ENSP00000358523.3:p.Arg272Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 203,
          "referenceAllele": "G",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "ENST00000474344.1:n.203G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105,
          "referenceAllele": "G",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "ENST00000478369.5:n.105G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "NM_001172411.1:c.815G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165882.1:p.Arg272Leu",
        "hgvsWellDefined": "NP_001165882.1:p.Arg272Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "NM_001172412.1:c.821G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165883.1:p.Arg274Leu",
        "hgvsWellDefined": "NP_001165883.1:p.Arg274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916783",
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "NM_138959.2:c.821G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_620409.1:p.Arg274Leu",
        "hgvsWellDefined": "NP_620409.1:p.Arg274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916783",
      "coordinates": [
        {
          "allele": "T",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "NM_138959.3:c.821G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_620409.1:p.Arg274Leu",
        "hgvsWellDefined": "NP_620409.1:p.Arg274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671971",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355485.7:c.821G>T"
          },
          "RefSeq": {
            "hgvs": "NM_138959.3:c.821G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347672.2:p.Arg274Leu"
          },
          "RefSeq": {
            "hgvs": "NP_620409.1:p.Arg274Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1069,
          "referenceAllele": "G",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "NM_001172411.2:c.815G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165882.1:p.Arg272Leu",
        "hgvsWellDefined": "NP_001165882.1:p.Arg272Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015512",
      "geneNCBI_id": 81839,
      "geneSymbol": "VANGL1",
      "hgvs": [
        "NM_001172412.2:c.821G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165883.1:p.Arg274Leu",
        "hgvsWellDefined": "NP_001165883.1:p.Arg274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713421"
    }
  ],
  "type": "nucleotide"
}