{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA385534617",
  "communityStandardTitle": [
    "NM_006576.4(AVIL):c.2250T>A (p.Asn750Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2409424[alleleid]",
        "alleleId": 2409424,
        "preferredName": "NM_006576.4(AVIL):c.2250T>A (p.Asn750Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2439445",
        "RCV": [
          "RCV003143714"
        ],
        "variationId": 2439445
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.58193674A>T?assembly=hg19",
        "id": "chr12:g.58193674A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57799891A>T?assembly=hg38",
        "id": "chr12:g.57799891A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2540974411",
        "rs": 2540974411
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 57799891,
          "referenceAllele": "A",
          "start": 57799890
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57799891A>T",
        "CM000674.2:g.57799891A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 58193674,
          "referenceAllele": "A",
          "start": 58193673
        }
      ],
      "hgvs": [
        "NC_000012.11:g.58193674A>T",
        "CM000674.1:g.58193674A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 56479941,
          "referenceAllele": "A",
          "start": 56479940
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56479941A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22147,
          "referenceAllele": "A",
          "start": 22146
        }
      ],
      "hgvs": [
        "NG_016971.1:g.22147A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003340"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2375,
          "referenceAllele": "T",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "ENST00000549994.2:c.2250T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449239.2:p.Asn750Lys",
        "hgvsWellDefined": "ENSP00000449239.2:p.Asn750Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825969",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549994.2:c.2250T>A"
          },
          "RefSeq": {
            "hgvs": "NM_006576.4:c.2250T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449239.2:p.Asn750Lys"
          },
          "RefSeq": {
            "hgvs": "NP_006567.3:p.Asn750Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2681,
          "referenceAllele": "T",
          "start": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "ENST00000257861.7:c.2250T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257861.3:p.Asn750Lys",
        "hgvsWellDefined": "ENSP00000257861.3:p.Asn750Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "endIntronDirection": "-",
          "endIntronOffset": 2663,
          "referenceAllele": "A",
          "start": 574,
          "startIntronDirection": "-",
          "startIntronOffset": 2664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012367",
      "geneNCBI_id": 10102,
      "geneSymbol": "TSFM",
      "hgvs": [
        "ENST00000543727.5:c.572-2664A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439342.1:n.572-2664A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "T",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "ENST00000546952.1:n.763T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "endIntronDirection": "+",
          "endIntronOffset": 6818,
          "referenceAllele": "A",
          "start": 586,
          "startIntronDirection": "+",
          "startIntronOffset": 6817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012367",
      "geneNCBI_id": 10102,
      "geneSymbol": "TSFM",
      "hgvs": [
        "ENST00000548851.5:c.571+6818A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450041.1:n.571+6818A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2383,
          "referenceAllele": "T",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "ENST00000549851.5:c.*2134T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450188.1:n.*2134T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 2282,
          "referenceAllele": "A",
          "start": 586,
          "startIntronDirection": "-",
          "startIntronOffset": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012367",
      "geneNCBI_id": 10102,
      "geneSymbol": "TSFM",
      "hgvs": [
        "ENST00000550559.5:c.572-2283A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448575.1:n.572-2283A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "referenceAllele": "T",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "ENST00000551248.1:n.304T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "endIntronDirection": "-",
          "endIntronOffset": 2663,
          "referenceAllele": "A",
          "start": 628,
          "startIntronDirection": "-",
          "startIntronOffset": 2664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012367",
      "geneNCBI_id": 10102,
      "geneSymbol": "TSFM",
      "hgvs": [
        "NM_001172697.1:c.572-2664A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166168.1:n.572-2664A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015537"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580347094",
      "coordinates": [
        {
          "allele": "A",
          "end": 2279,
          "referenceAllele": "T",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "NM_006576.3:c.2250T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006567.3:p.Asn750Lys",
        "hgvsWellDefined": "NP_006567.3:p.Asn750Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2512,
          "referenceAllele": "T",
          "start": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_011537766.1:c.2466T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536068.1:p.Asn822Lys",
        "hgvsWellDefined": "XP_011536068.1:p.Asn822Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_011537767.1:c.2382T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536069.1:p.Asn794Lys",
        "hgvsWellDefined": "XP_011536069.1:p.Asn794Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2380,
          "referenceAllele": "T",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_011537768.1:c.2334T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536070.1:p.Asn778Lys",
        "hgvsWellDefined": "XP_011536070.1:p.Asn778Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5166,
          "referenceAllele": "T",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_011537769.1:c.2313T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536071.1:p.Asn771Lys",
        "hgvsWellDefined": "XP_011536071.1:p.Asn771Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4826,
          "referenceAllele": "T",
          "start": 4825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_011537770.1:c.2313T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536072.1:p.Asn771Lys",
        "hgvsWellDefined": "XP_011536072.1:p.Asn771Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1627,
          "referenceAllele": "T",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_011537771.1:c.1485T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536073.1:p.Asn495Lys",
        "hgvsWellDefined": "XP_011536073.1:p.Asn495Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1513,
          "referenceAllele": "T",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_011537772.1:c.1431T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536074.1:p.Asn477Lys",
        "hgvsWellDefined": "XP_011536074.1:p.Asn477Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2345,
          "referenceAllele": "T",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_017018710.2:c.2250T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874199.1:p.Asn750Lys",
        "hgvsWellDefined": "XP_016874199.1:p.Asn750Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3258,
          "referenceAllele": "T",
          "start": 3257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_017018711.2:c.2181T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874200.1:p.Asn727Lys",
        "hgvsWellDefined": "XP_016874200.1:p.Asn727Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3201,
          "referenceAllele": "T",
          "start": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_017018712.2:c.2181T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874201.1:p.Asn727Lys",
        "hgvsWellDefined": "XP_016874201.1:p.Asn727Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "T",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_017018713.2:c.2181T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874202.1:p.Asn727Lys",
        "hgvsWellDefined": "XP_016874202.1:p.Asn727Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1496,
          "referenceAllele": "T",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_017018714.2:c.1353T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874203.1:p.Asn451Lys",
        "hgvsWellDefined": "XP_016874203.1:p.Asn451Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "referenceAllele": "T",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_017018715.2:c.1299T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874204.1:p.Asn433Lys",
        "hgvsWellDefined": "XP_016874204.1:p.Asn433Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3483,
          "referenceAllele": "T",
          "start": 3482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "XM_024448800.1:c.2181T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304568.1:p.Asn727Lys",
        "hgvsWellDefined": "XP_024304568.1:p.Asn727Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 2663,
          "referenceAllele": "A",
          "start": 586,
          "startIntronDirection": "-",
          "startIntronOffset": 2664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012367",
      "geneNCBI_id": 10102,
      "geneSymbol": "TSFM",
      "hgvs": [
        "NM_001172697.2:c.572-2664A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166168.1:n.572-2664A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580347094",
      "coordinates": [
        {
          "allele": "A",
          "end": 2375,
          "referenceAllele": "T",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014188",
      "geneNCBI_id": 10677,
      "geneSymbol": "AVIL",
      "hgvs": [
        "NM_006576.4:c.2250T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006567.3:p.Asn750Lys",
        "hgvsWellDefined": "NP_006567.3:p.Asn750Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549994.2:c.2250T>A"
          },
          "RefSeq": {
            "hgvs": "NM_006576.4:c.2250T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449239.2:p.Asn750Lys"
          },
          "RefSeq": {
            "hgvs": "NP_006567.3:p.Asn750Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}