{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA291542806",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=610087[alleleid]",
        "alleleId": 610087,
        "preferredName": "NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/618573",
        "RCV": [
          "RCV000757101",
          "RCV002536564"
        ],
        "variationId": 618573
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48263329G>T?assembly=hg19",
        "id": "chr17:g.48263329G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50185968G>T?assembly=hg38",
        "id": "chr17:g.50185968G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/982770651",
        "rs": 982770651
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48263329-G-T?dataset=gnomad_r2_1",
        "id": "17-48263329-G-T",
        "variant": "17:48263329 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50185968-G-T?dataset=gnomad_r4",
        "id": "17-50185968-G-T",
        "variant": "17:50185968 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 50185968,
          "referenceAllele": "G",
          "start": 50185967
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50185968G>T",
        "CM000679.2:g.50185968G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 48263329,
          "referenceAllele": "G",
          "start": 48263328
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48263329G>T",
        "CM000679.1:g.48263329G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 45618328,
          "referenceAllele": "G",
          "start": 45618327
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45618328G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20672,
          "referenceAllele": "C",
          "start": 20671
        }
      ],
      "hgvs": [
        "NG_007400.1:g.20672C>A",
        "LRG_1:g.20672C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4176,
          "referenceAllele": "C",
          "start": 4175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.4058C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:p.Thr1353Asn",
        "hgvsWellDefined": "ENSP00000225964.6:p.Thr1353Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.4058C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.4058C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Thr1353Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Thr1353Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4177,
          "referenceAllele": "C",
          "start": 4176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.4058C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:p.Thr1353Asn",
        "hgvsWellDefined": "ENSP00000225964.5:p.Thr1353Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000510710.3:n.1023C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191428",
      "coordinates": [
        {
          "allele": "A",
          "end": 4184,
          "referenceAllele": "C",
          "start": 4183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.4058C>A",
        "LRG_1t1:c.4058C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Thr1353Asn",
        "hgvsWellDefined": "NP_000079.2:p.Thr1353Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3923,
          "referenceAllele": "C",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.3788C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Thr1263Asn",
        "hgvsWellDefined": "XP_005257115.2:p.Thr1263Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3274,
          "referenceAllele": "C",
          "start": 3273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.3140C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Thr1047Asn",
        "hgvsWellDefined": "XP_005257116.2:p.Thr1047Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3995,
          "referenceAllele": "C",
          "start": 3994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.3860C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:p.Thr1287Asn",
        "hgvsWellDefined": "XP_011522643.1:p.Thr1287Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3924,
          "referenceAllele": "C",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.3788C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Thr1263Asn",
        "hgvsWellDefined": "XP_005257115.2:p.Thr1263Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3275,
          "referenceAllele": "C",
          "start": 3274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.3140C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Thr1047Asn",
        "hgvsWellDefined": "XP_005257116.2:p.Thr1047Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191428",
      "coordinates": [
        {
          "allele": "A",
          "end": 4176,
          "referenceAllele": "C",
          "start": 4175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.4058C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Thr1353Asn",
        "hgvsWellDefined": "NP_000079.2:p.Thr1353Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.4058C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.4058C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Thr1353Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Thr1353Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}