{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347435",
  "communityStandardTitle": [
    "NM_020533.3(MCOLN1):c.235C>T (p.Gln79Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.7590050C>T?assembly=hg19",
        "id": "chr19:g.7590050C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.7525164C>T?assembly=hg38",
        "id": "chr19:g.7525164C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797044832",
        "rs": 797044832
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 7525164,
          "referenceAllele": "C",
          "start": 7525163
        }
      ],
      "hgvs": [
        "NC_000019.10:g.7525164C>T",
        "CM000681.2:g.7525164C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 7590050,
          "referenceAllele": "C",
          "start": 7590049
        }
      ],
      "hgvs": [
        "NC_000019.9:g.7590050C>T",
        "CM000681.1:g.7590050C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 7496050,
          "referenceAllele": "C",
          "start": 7496049
        }
      ],
      "hgvs": [
        "NC_000019.8:g.7496050C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7555,
          "referenceAllele": "C",
          "start": 7554
        }
      ],
      "hgvs": [
        "NG_015806.1:g.7555C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "referenceAllele": "C",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "ENST00000264079.11:c.235C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264079.5:p.Gln79Ter",
        "hgvsWellDefined": "ENSP00000264079.5:p.Gln79_Asn580delinsLeuIleLeuPheGlyLeuSerAsnGlnLeuAlaValThrPheArgGluGluAsnThrIleAlaPheArgHisLeuPheLeuLeuGlyTyrSerAspGlyAlaAspAspThrPheAlaAlaTyrThrArgGluGlnLeuTyrGlnAlaIlePheHisAlaValAspGlnTyrLeuAlaLeuProAspValSerLeuGlyArgTyrAlaTyrValArgGlyGlyGlyAspProTrpThrAsnGlySerGlyLeuAlaLeuCysGlnArgTyrTyrHisArgGlyHisValAspProAlaAsnAspThrPheAspIleAspProMetValValThrAspCysIleGlnValAspProProGluArgProProProProProSerAspAspLeuThrLeuLeuGluSerSerSerSerTyrLysAsnLeuThrLeuLysPheHisLysLeuValAsnValThrIleHisPheArgLeuLysThrIleAsnLeuGlnSerLeuIleAsnAsnGluIleProAspCysTyrThrPheSerValLeuIleThrPheAspAsnLysAlaHisSerGlyArgIleProIleSerLeuGluThrGlnAlaHisIleGlnGluCysLysHisProSerValPheGlnHisGlyAspAsnSerPheArgLeuLeuPheAspValValValIleLeuThrCysSerLeuSerPheLeuLeuCysAlaArgSerLeuLeuArgGlyPheLeuLeuGlnAsnGluPheValGlyPheMetTrpArgGlnArgGlyArgValIleSerLeuTrpGluArgLeuGluPheValAsnGlyTrpTyrIleLeuLeuValThrSerAspValLeuThrIleSerGlyThrIleMetLysIleGlyIleGluAlaLysAsnLeuAlaSerTyrAspValCysSerIleLeuLeuGlyThrSerThrLeuLeuValTrpValGlyValIleArgTyrLeuThrPhePheHisAsnTyrAsnIleLeuIleAlaThrLeuArgValAlaLeuProSerValMetArgPheCysCysCysValAlaValIleTyrLeuGlyTyrCysPheCysGlyTrpIleValLeuGlyProTyrHisValLysPheArgSerLeuSerMetValSerGluCysLeuPheSerLeuIleAsnGlyAspAspMetPheValThrPheAlaAlaMetGlnAlaGlnGlnGlyArgSerSerLeuValTrpLeuPheSerGlnLeuTyrLeuTyrSerPheIleSerLeuPheIleTyrMetValLeuSerLeuPheIleAlaLeuIleThrGlyAlaTyrAspThrIleLysHisProGlyGlyAlaGlyAlaGluGluSerGluLeuGlnAlaTyrIleAlaGlnCysGlnAspSerProThrSerGlyLysPheArgArgGlySerGlySerAlaCysSerLeuLeuCysCysCysGlyArgAspProSerGluGluHisSerLeuLeuValAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742617",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264079.11:c.235C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020533.3:c.235C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264079.5:p.Gln79Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065394.1:p.Gln79Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "ENST00000264079.10:c.235C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264079.5:p.Gln79Ter",
        "hgvsWellDefined": "ENSP00000264079.5:p.Gln79_Asn580delinsLeuIleLeuPheGlyLeuSerAsnGlnLeuAlaValThrPheArgGluGluAsnThrIleAlaPheArgHisLeuPheLeuLeuGlyTyrSerAspGlyAlaAspAspThrPheAlaAlaTyrThrArgGluGlnLeuTyrGlnAlaIlePheHisAlaValAspGlnTyrLeuAlaLeuProAspValSerLeuGlyArgTyrAlaTyrValArgGlyGlyGlyAspProTrpThrAsnGlySerGlyLeuAlaLeuCysGlnArgTyrTyrHisArgGlyHisValAspProAlaAsnAspThrPheAspIleAspProMetValValThrAspCysIleGlnValAspProProGluArgProProProProProSerAspAspLeuThrLeuLeuGluSerSerSerSerTyrLysAsnLeuThrLeuLysPheHisLysLeuValAsnValThrIleHisPheArgLeuLysThrIleAsnLeuGlnSerLeuIleAsnAsnGluIleProAspCysTyrThrPheSerValLeuIleThrPheAspAsnLysAlaHisSerGlyArgIleProIleSerLeuGluThrGlnAlaHisIleGlnGluCysLysHisProSerValPheGlnHisGlyAspAsnSerPheArgLeuLeuPheAspValValValIleLeuThrCysSerLeuSerPheLeuLeuCysAlaArgSerLeuLeuArgGlyPheLeuLeuGlnAsnGluPheValGlyPheMetTrpArgGlnArgGlyArgValIleSerLeuTrpGluArgLeuGluPheValAsnGlyTrpTyrIleLeuLeuValThrSerAspValLeuThrIleSerGlyThrIleMetLysIleGlyIleGluAlaLysAsnLeuAlaSerTyrAspValCysSerIleLeuLeuGlyThrSerThrLeuLeuValTrpValGlyValIleArgTyrLeuThrPhePheHisAsnTyrAsnIleLeuIleAlaThrLeuArgValAlaLeuProSerValMetArgPheCysCysCysValAlaValIleTyrLeuGlyTyrCysPheCysGlyTrpIleValLeuGlyProTyrHisValLysPheArgSerLeuSerMetValSerGluCysLeuPheSerLeuIleAsnGlyAspAspMetPheValThrPheAlaAlaMetGlnAlaGlnGlnGlyArgSerSerLeuValTrpLeuPheSerGlnLeuTyrLeuTyrSerPheIleSerLeuPheIleTyrMetValLeuSerLeuPheIleAlaLeuIleThrGlyAlaTyrAspThrIleLysHisProGlyGlyAlaGlyAlaGluGluSerGluLeuGlnAlaTyrIleAlaGlnCysGlnAspSerProThrSerGlyLysPheArgArgGlySerGlySerAlaCysSerLeuLeuCysCysCysGlyArgAspProSerGluGluHisSerLeuLeuValAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "ENST00000394321.9:n.315C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS276117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 351,
          "referenceAllele": "C",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "ENST00000596390.1:n.351C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "ENST00000601003.1:c.235C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469074.1:p.Gln79Ter",
        "hgvsWellDefined": "ENSP00000469074.1:p.Gln79Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA347436",
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "NM_020533.2:c.235C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065394.1:p.Gln79Ter",
        "hgvsWellDefined": "NP_065394.1:p.Gln79_Asn580delinsLeuIleLeuPheGlyLeuSerAsnGlnLeuAlaValThrPheArgGluGluAsnThrIleAlaPheArgHisLeuPheLeuLeuGlyTyrSerAspGlyAlaAspAspThrPheAlaAlaTyrThrArgGluGlnLeuTyrGlnAlaIlePheHisAlaValAspGlnTyrLeuAlaLeuProAspValSerLeuGlyArgTyrAlaTyrValArgGlyGlyGlyAspProTrpThrAsnGlySerGlyLeuAlaLeuCysGlnArgTyrTyrHisArgGlyHisValAspProAlaAsnAspThrPheAspIleAspProMetValValThrAspCysIleGlnValAspProProGluArgProProProProProSerAspAspLeuThrLeuLeuGluSerSerSerSerTyrLysAsnLeuThrLeuLysPheHisLysLeuValAsnValThrIleHisPheArgLeuLysThrIleAsnLeuGlnSerLeuIleAsnAsnGluIleProAspCysTyrThrPheSerValLeuIleThrPheAspAsnLysAlaHisSerGlyArgIleProIleSerLeuGluThrGlnAlaHisIleGlnGluCysLysHisProSerValPheGlnHisGlyAspAsnSerPheArgLeuLeuPheAspValValValIleLeuThrCysSerLeuSerPheLeuLeuCysAlaArgSerLeuLeuArgGlyPheLeuLeuGlnAsnGluPheValGlyPheMetTrpArgGlnArgGlyArgValIleSerLeuTrpGluArgLeuGluPheValAsnGlyTrpTyrIleLeuLeuValThrSerAspValLeuThrIleSerGlyThrIleMetLysIleGlyIleGluAlaLysAsnLeuAlaSerTyrAspValCysSerIleLeuLeuGlyThrSerThrLeuLeuValTrpValGlyValIleArgTyrLeuThrPhePheHisAsnTyrAsnIleLeuIleAlaThrLeuArgValAlaLeuProSerValMetArgPheCysCysCysValAlaValIleTyrLeuGlyTyrCysPheCysGlyTrpIleValLeuGlyProTyrHisValLysPheArgSerLeuSerMetValSerGluCysLeuPheSerLeuIleAsnGlyAspAspMetPheValThrPheAlaAlaMetGlnAlaGlnGlnGlyArgSerSerLeuValTrpLeuPheSerGlnLeuTyrLeuTyrSerPheIleSerLeuPheIleTyrMetValLeuSerLeuPheIleAlaLeuIleThrGlyAlaTyrAspThrIleLysHisProGlyGlyAlaGlyAlaGluGluSerGluLeuGlnAlaTyrIleAlaGlnCysGlnAspSerProThrSerGlyLysPheArgArgGlySerGlySerAlaCysSerLeuLeuCysCysCysGlyArgAspProSerGluGluHisSerLeuLeuValAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036449"
    },
    {
      "@id": "http://reg.genome.network/allele/PA347436",
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "referenceAllele": "C",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "NM_020533.3:c.235C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065394.1:p.Gln79Ter",
        "hgvsWellDefined": "NP_065394.1:p.Gln79_Asn580delinsLeuIleLeuPheGlyLeuSerAsnGlnLeuAlaValThrPheArgGluGluAsnThrIleAlaPheArgHisLeuPheLeuLeuGlyTyrSerAspGlyAlaAspAspThrPheAlaAlaTyrThrArgGluGlnLeuTyrGlnAlaIlePheHisAlaValAspGlnTyrLeuAlaLeuProAspValSerLeuGlyArgTyrAlaTyrValArgGlyGlyGlyAspProTrpThrAsnGlySerGlyLeuAlaLeuCysGlnArgTyrTyrHisArgGlyHisValAspProAlaAsnAspThrPheAspIleAspProMetValValThrAspCysIleGlnValAspProProGluArgProProProProProSerAspAspLeuThrLeuLeuGluSerSerSerSerTyrLysAsnLeuThrLeuLysPheHisLysLeuValAsnValThrIleHisPheArgLeuLysThrIleAsnLeuGlnSerLeuIleAsnAsnGluIleProAspCysTyrThrPheSerValLeuIleThrPheAspAsnLysAlaHisSerGlyArgIleProIleSerLeuGluThrGlnAlaHisIleGlnGluCysLysHisProSerValPheGlnHisGlyAspAsnSerPheArgLeuLeuPheAspValValValIleLeuThrCysSerLeuSerPheLeuLeuCysAlaArgSerLeuLeuArgGlyPheLeuLeuGlnAsnGluPheValGlyPheMetTrpArgGlnArgGlyArgValIleSerLeuTrpGluArgLeuGluPheValAsnGlyTrpTyrIleLeuLeuValThrSerAspValLeuThrIleSerGlyThrIleMetLysIleGlyIleGluAlaLysAsnLeuAlaSerTyrAspValCysSerIleLeuLeuGlyThrSerThrLeuLeuValTrpValGlyValIleArgTyrLeuThrPhePheHisAsnTyrAsnIleLeuIleAlaThrLeuArgValAlaLeuProSerValMetArgPheCysCysCysValAlaValIleTyrLeuGlyTyrCysPheCysGlyTrpIleValLeuGlyProTyrHisValLysPheArgSerLeuSerMetValSerGluCysLeuPheSerLeuIleAsnGlyAspAspMetPheValThrPheAlaAlaMetGlnAlaGlnGlnGlyArgSerSerLeuValTrpLeuPheSerGlnLeuTyrLeuTyrSerPheIleSerLeuPheIleTyrMetValLeuSerLeuPheIleAlaLeuIleThrGlyAlaTyrAspThrIleLysHisProGlyGlyAlaGlyAlaGluGluSerGluLeuGlnAlaTyrIleAlaGlnCysGlnAspSerProThrSerGlyLysPheArgArgGlySerGlySerAlaCysSerLeuLeuCysCysCysGlyArgAspProSerGluGluHisSerLeuLeuValAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670032",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264079.11:c.235C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020533.3:c.235C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264079.5:p.Gln79Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065394.1:p.Gln79Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}