{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA259775",
  "communityStandardTitle": [
    "NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39218[alleleid]",
        "alleleId": 39218,
        "preferredName": "NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30262",
        "RCV": [
          "RCV000023189",
          "RCV001857359"
        ],
        "variationId": 30262
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-35473528-C-A",
        "id": "6-35473528-C-A",
        "variant": "6:35473528 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.35473528C>A?assembly=hg19",
        "id": "chr6:g.35473528C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.35505751C>A?assembly=hg38",
        "id": "chr6:g.35505751C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906837",
        "rs": 387906837
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-35473528-C-A?dataset=gnomad_r2_1",
        "id": "6-35473528-C-A",
        "variant": "6:35473528 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-35505751-C-A?dataset=gnomad_r4",
        "id": "6-35505751-C-A",
        "variant": "6:35505751 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 35505751,
          "referenceAllele": "C",
          "start": 35505750
        }
      ],
      "hgvs": [
        "NC_000006.12:g.35505751C>A",
        "CM000668.2:g.35505751C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 35473528,
          "referenceAllele": "C",
          "start": 35473527
        }
      ],
      "hgvs": [
        "NC_000006.11:g.35473528C>A",
        "CM000668.1:g.35473528C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 35581506,
          "referenceAllele": "C",
          "start": 35581505
        }
      ],
      "hgvs": [
        "NC_000006.10:g.35581506C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12120,
          "referenceAllele": "G",
          "start": 12119
        }
      ],
      "hgvs": [
        "NG_009077.1:g.12120G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001413"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "ENST00000229771.11:c.1102G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229771.6:p.Gly368Trp",
        "hgvsWellDefined": "ENSP00000229771.6:p.Gly368Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229771.11:c.1102G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003322.6:c.1102G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229771.6:p.Gly368Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003313.3:p.Gly368Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1182,
          "referenceAllele": "G",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "ENST00000229771.10:c.1102G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229771.6:p.Gly368Trp",
        "hgvsWellDefined": "ENSP00000229771.6:p.Gly368Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "referenceAllele": "G",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "ENST00000322263.8:c.943G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000319414.4:p.Gly315Trp",
        "hgvsWellDefined": "ENSP00000319414.4:p.Gly315Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "ENST00000373892.4:n.704G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "ENST00000496434.5:n.119G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "referenceAllele": "G",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "ENST00000614066.4:c.1096G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477534.1:p.Gly366Trp",
        "hgvsWellDefined": "ENSP00000477534.1:p.Gly366Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826764692",
      "coordinates": [
        {
          "allele": "T",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "NM_001289395.1:c.943G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276324.1:p.Gly315Trp",
        "hgvsWellDefined": "NP_001276324.1:p.Gly315Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110292",
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "NM_003322.4:c.1102G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003313.3:p.Gly368Trp",
        "hgvsWellDefined": "NP_003313.3:p.Gly368Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110292",
      "coordinates": [
        {
          "allele": "T",
          "end": 1182,
          "referenceAllele": "G",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "NM_003322.5:c.1102G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003313.3:p.Gly368Trp",
        "hgvsWellDefined": "NP_003313.3:p.Gly368Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110292",
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "NM_003322.6:c.1102G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003313.3:p.Gly368Trp",
        "hgvsWellDefined": "NP_003313.3:p.Gly368Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229771.11:c.1102G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003322.6:c.1102G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229771.6:p.Gly368Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003313.3:p.Gly368Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826764692",
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "NM_001289395.2:c.943G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276324.1:p.Gly315Trp",
        "hgvsWellDefined": "NP_001276324.1:p.Gly315Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682649"
    }
  ],
  "type": "nucleotide"
}