{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA385555691",
  "communityStandardTitle": [
    "NM_006576.4(AVIL):c.431A>T (p.Asn144Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1683780[alleleid]",
        "alleleId": 1683780,
        "preferredName": "NM_006576.4(AVIL):c.431A>T (p.Asn144Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1691301",
        "RCV": [
          "RCV002254399"
        ],
        "variationId": 1691301
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.58204818T>A?assembly=hg19",
        "id": "chr12:g.58204818T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57811035T>A?assembly=hg38",
        "id": "chr12:g.57811035T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2140456079",
        "rs": 2140456079
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 57811035,
          "referenceAllele": "T",
          "start": 57811034
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57811035T>A",
        "CM000674.2:g.57811035T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 58204818,
          "referenceAllele": "T",
          "start": 58204817
        }
      ],
      "hgvs": [
        "NC_000012.11:g.58204818T>A",
        "CM000674.1:g.58204818T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 56491085,
          "referenceAllele": "T",
          "start": 56491084
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56491085T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "A",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "ENST00000549994.2:c.431A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449239.2:p.Asn144Ile",
        "hgvsWellDefined": "ENSP00000449239.2:p.Asn144Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825969",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549994.2:c.431A>T"
          },
          "RefSeq": {
            "hgvs": "NM_006576.4:c.431A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449239.2:p.Asn144Ile"
          },
          "RefSeq": {
            "hgvs": "NP_006567.3:p.Asn144Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "ENST00000257861.7:c.431A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257861.3:p.Asn144Ile",
        "hgvsWellDefined": "ENSP00000257861.3:p.Asn144Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "ENST00000548843.1:n.365A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "A",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "ENST00000549851.5:c.*315A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450188.1:n.*315A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "A",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "ENST00000549994.1:c.431A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449239.1:p.Asn144Ile",
        "hgvsWellDefined": "ENSP00000449239.1:p.Asn144Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573253072",
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "referenceAllele": "A",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "NM_006576.3:c.431A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006567.3:p.Asn144Ile",
        "hgvsWellDefined": "NP_006567.3:p.Asn144Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "A",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_011537766.1:c.515A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536068.1:p.Asn172Ile",
        "hgvsWellDefined": "XP_011536068.1:p.Asn172Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "A",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_011537767.1:c.431A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536069.1:p.Asn144Ile",
        "hgvsWellDefined": "XP_011536069.1:p.Asn144Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "A",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_011537768.1:c.515A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536070.1:p.Asn172Ile",
        "hgvsWellDefined": "XP_011536070.1:p.Asn172Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3215,
          "referenceAllele": "A",
          "start": 3214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_011537769.1:c.362A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536071.1:p.Asn121Ile",
        "hgvsWellDefined": "XP_011536071.1:p.Asn121Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2875,
          "referenceAllele": "A",
          "start": 2874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_011537770.1:c.362A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536072.1:p.Asn121Ile",
        "hgvsWellDefined": "XP_011536072.1:p.Asn121Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "A",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_017018710.2:c.431A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874199.1:p.Asn144Ile",
        "hgvsWellDefined": "XP_016874199.1:p.Asn144Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "A",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_017018711.2:c.362A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874200.1:p.Asn121Ile",
        "hgvsWellDefined": "XP_016874200.1:p.Asn121Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "referenceAllele": "A",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_017018712.2:c.362A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874201.1:p.Asn121Ile",
        "hgvsWellDefined": "XP_016874201.1:p.Asn121Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "A",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_017018713.2:c.362A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874202.1:p.Asn121Ile",
        "hgvsWellDefined": "XP_016874202.1:p.Asn121Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1664,
          "referenceAllele": "A",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_024448800.1:c.362A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304568.1:p.Asn121Ile",
        "hgvsWellDefined": "XP_024304568.1:p.Asn121Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573253072",
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "A",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "NM_006576.4:c.431A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006567.3:p.Asn144Ile",
        "hgvsWellDefined": "NP_006567.3:p.Asn144Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549994.2:c.431A>T"
          },
          "RefSeq": {
            "hgvs": "NM_006576.4:c.431A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449239.2:p.Asn144Ile"
          },
          "RefSeq": {
            "hgvs": "NP_006567.3:p.Asn144Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}