{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347150590",
  "communityStandardTitle": [
    "NM_152792.4(ASPRV1):c.688C>A (p.Pro230Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=965407[alleleid]",
        "alleleId": 965407,
        "preferredName": "NM_152792.4(ASPRV1):c.688C>A (p.Pro230Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/977278",
        "RCV": [
          "RCV001254869"
        ],
        "variationId": 977278
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.70187881G>T?assembly=hg19",
        "id": "chr2:g.70187881G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.69960749G>T?assembly=hg38",
        "id": "chr2:g.69960749G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756352033",
        "rs": 756352033
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-69960749-G-T?dataset=gnomad_r4",
        "id": "2-69960749-G-T",
        "variant": "2:69960749 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 69960749,
          "referenceAllele": "G",
          "start": 69960748
        }
      ],
      "hgvs": [
        "NC_000002.12:g.69960749G>T",
        "CM000664.2:g.69960749G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 70187881,
          "referenceAllele": "G",
          "start": 70187880
        }
      ],
      "hgvs": [
        "NC_000002.11:g.70187881G>T",
        "CM000664.1:g.70187881G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 70041385,
          "referenceAllele": "G",
          "start": 70041384
        }
      ],
      "hgvs": [
        "NC_000002.10:g.70041385G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6517,
          "referenceAllele": "C",
          "start": 6516
        }
      ],
      "hgvs": [
        "NG_054918.1:g.6517C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617555"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "ENST00000320256.6:c.688C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315383.5:p.Pro230Thr",
        "hgvsWellDefined": "ENSP00000315383.5:p.Pro230Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320256.6:c.688C>A"
          },
          "RefSeq": {
            "hgvs": "NM_152792.4:c.688C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315383.5:p.Pro230Thr"
          },
          "RefSeq": {
            "hgvs": "NP_690005.3:p.Pro230Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "ENST00000320256.5:c.940C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315383.4:p.Pro314Thr",
        "hgvsWellDefined": "ENSP00000315383.4:p.Pro314Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257780"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139764603",
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "NM_152792.2:c.940C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_690005.2:p.Pro314Thr",
        "hgvsWellDefined": "NP_690005.2:p.Pro314Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830295825",
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "NM_152792.4:c.688C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_690005.3:p.Pro230Thr",
        "hgvsWellDefined": "NP_690005.3:p.Pro230Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729431",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320256.6:c.688C>A"
          },
          "RefSeq": {
            "hgvs": "NM_152792.4:c.688C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315383.5:p.Pro230Thr"
          },
          "RefSeq": {
            "hgvs": "NP_690005.3:p.Pro230Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1100,
          "endIntronDirection": "+",
          "endIntronOffset": 14806,
          "referenceAllele": "C",
          "start": 1100,
          "startIntronDirection": "+",
          "startIntronOffset": 14805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "NR_170375.1:n.1100+14806C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 700,
          "endIntronDirection": "-",
          "endIntronOffset": 16830,
          "referenceAllele": "C",
          "start": 700,
          "startIntronDirection": "-",
          "startIntronOffset": 16831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "NR_170376.1:n.701-16831C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3231,
          "referenceAllele": "C",
          "start": 3230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "NR_170631.1:n.3231C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3381,
          "referenceAllele": "C",
          "start": 3380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "NR_170632.1:n.3381C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3293,
          "referenceAllele": "C",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "NR_170634.1:n.3293C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3546,
          "referenceAllele": "C",
          "start": 3545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "NR_170635.1:n.3546C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4158,
          "referenceAllele": "C",
          "start": 4157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "NR_170636.1:n.4158C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3493,
          "referenceAllele": "C",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "NR_170637.1:n.3493C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3636,
          "referenceAllele": "C",
          "start": 3635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "NR_170638.1:n.3636C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3506,
          "referenceAllele": "C",
          "start": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026321",
      "geneNCBI_id": 151516,
      "geneSymbol": "ASPRV1",
      "hgvs": [
        "NR_170639.1:n.3506C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732732"
    }
  ],
  "type": "nucleotide"
}