{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA341958796", "communityStandardTitle": [ "NM_001330723.2(SNX27):c.652C>T (p.Arg218Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1400037[alleleid]", "alleleId": 1400037, "preferredName": "NM_001330723.2(SNX27):c.652C>T (p.Arg218Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1448025", "RCV": [ "RCV001997033" ], "variationId": 1448025 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.151630819C>T?assembly=hg19", "id": "chr1:g.151630819C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.151658343C>T?assembly=hg38", "id": "chr1:g.151658343C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2102676931", "rs": 2102676931 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-151658343-C-T?dataset=gnomad_r4", "id": "1-151658343-C-T", "variant": "1:151658343 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 151658343, "referenceAllele": "C", "start": 151658342 } ], "hgvs": [ "NC_000001.11:g.151658343C>T", "CM000663.2:g.151658343C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 151630819, "referenceAllele": "C", "start": 151630818 } ], "hgvs": [ "NC_000001.10:g.151630819C>T", "CM000663.1:g.151630819C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 149897443, "referenceAllele": "C", "start": 149897442 } ], "hgvs": [ "NC_000001.9:g.149897443C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000368838.2:c.249C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS750297" }, { "coordinates": [ { "allele": "T", "end": 659, "referenceAllele": "C", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000368841.7:c.*323C>T" ], "proteinEffect": { "hgvs": "ENSP00000357834.2:n.*323C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS750298" }, { "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000368843.8:c.652C>T" ], "proteinEffect": { "hgvs": "ENSP00000357836.3:p.Arg218Ter", "hgvsWellDefined": "ENSP00000357836.3:p.Arg218_Tyr528delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750300" }, { "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000458013.7:c.652C>T" ], "proteinEffect": { "hgvs": "ENSP00000400333.2:p.Arg218Ter", "hgvsWellDefined": "ENSP00000400333.2:p.Arg218_Thr541delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756615", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000458013.7:c.652C>T" }, "RefSeq": { "hgvs": "NM_001330723.2:c.652C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400333.2:p.Arg218Ter" }, "RefSeq": { "hgvs": "NP_001317652.1:p.Arg218Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000642349.1:c.386C>T" ], "proteinEffect": { "hgvs": "ENSP00000494331.1:n.386C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766690" }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000642376.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000496645.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000496645.1:p.Arg97_Tyr407delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766706" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000642479.1:c.*30C>T" ], "proteinEffect": { "hgvs": "ENSP00000496775.1:n.*30C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766767" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "C", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000642582.1:n.368C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766823" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000643179.1:n.460C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767138" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000643814.1:n.373C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767487" }, { "coordinates": [ { "allele": "T", "end": 109, "referenceAllele": "C", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000643845.1:n.109C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767504" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000644113.1:n.336C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767640" }, { "coordinates": [ { "allele": "T", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000644970.1:n.650C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768099" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000647328.1:n.373C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769352" }, { "coordinates": [ { "allele": "T", "end": 101, "referenceAllele": "C", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000647454.1:n.101C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769422" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000368838.1:c.373C>T" ], "proteinEffect": { "hgvs": "ENSP00000357831.1:p.Arg125Ter", "hgvsWellDefined": "ENSP00000357831.1:p.Arg125_Tyr435delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267208" }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "C", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000368841.6:c.*323C>T" ], "proteinEffect": { "hgvs": "ENSP00000357834.2:n.*323C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS267210" }, { "coordinates": [ { "allele": "T", "end": 772, "referenceAllele": "C", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000368843.7:c.652C>T" ], "proteinEffect": { "hgvs": "ENSP00000357836.3:p.Arg218Ter", "hgvsWellDefined": "ENSP00000357836.3:p.Arg218_Tyr528delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267212" }, { "coordinates": [ { "allele": "T", "end": 772, "referenceAllele": "C", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "ENST00000458013.6:c.652C>T" ], "proteinEffect": { "hgvs": "ENSP00000400333.2:p.Arg218Ter", "hgvsWellDefined": "ENSP00000400333.2:p.Arg218_Thr541delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304210" }, { "@id": "http://reg.genome.network/allele/PA2573286838", "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "NM_030918.5:c.652C>T" ], "proteinEffect": { "hgvs": "NP_112180.4:p.Arg218Ter", "hgvsWellDefined": "NP_112180.4:p.Arg218_Tyr528delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038480" }, { "coordinates": [ { "allele": "T", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_005245509.1:c.652C>T" ], "proteinEffect": { "hgvs": "XP_005245566.1:p.Arg218Ter", "hgvsWellDefined": "XP_005245566.1:p.Arg218_Thr541delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057248" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_005245510.2:c.343C>T" ], "proteinEffect": { "hgvs": "XP_005245567.1:p.Arg115Ter", "hgvsWellDefined": "XP_005245567.1:p.Arg115_Thr438delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057249" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_005245511.3:c.94C>T" ], "proteinEffect": { "hgvs": "XP_005245568.1:p.Arg32Ter", "hgvsWellDefined": "XP_005245568.1:p.Arg32_Tyr342delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057250" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "C", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510024.1:c.349C>T" ], "proteinEffect": { "hgvs": "XP_011508326.1:p.Arg117Ter", "hgvsWellDefined": "XP_011508326.1:p.Arg117_Thr440delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077289" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "C", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510025.1:c.289C>T" ], "proteinEffect": { "hgvs": "XP_011508327.1:p.Arg97Ter", "hgvsWellDefined": "XP_011508327.1:p.Arg97_Thr420delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077290" }, { "coordinates": [ { "allele": "T", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510026.1:c.652C>T" ], "proteinEffect": { "hgvs": "XP_011508328.1:p.Arg218Ter", "hgvsWellDefined": "XP_011508328.1:p.Arg218_Pro419delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnIleProAlaAlaSerLeuHisPheProLeuLeuLysMetArgHisGlnLeuSerPheLeuLeuHisSerTyrHisIleProIleProPheSerSerLeuProSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077291" }, { "@id": "http://reg.genome.network/allele/PA2827344249", "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "NM_001330723.1:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001317652.1:p.Arg218Ter", "hgvsWellDefined": "NP_001317652.1:p.Arg218_Thr541delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517049" }, { "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_005245510.3:c.343C>T" ], "proteinEffect": { "hgvs": "XP_005245567.1:p.Arg115Ter", "hgvsWellDefined": "XP_005245567.1:p.Arg115_Thr438delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532439" }, { "coordinates": [ { "allele": "T", "end": 696, "referenceAllele": "C", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_005245511.4:c.94C>T" ], "proteinEffect": { "hgvs": "XP_005245568.1:p.Arg32Ter", "hgvsWellDefined": "XP_005245568.1:p.Arg32_Tyr342delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532440" }, { "coordinates": [ { "allele": "T", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510024.2:c.349C>T" ], "proteinEffect": { "hgvs": "XP_011508326.1:p.Arg117Ter", "hgvsWellDefined": "XP_011508326.1:p.Arg117_Thr440delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541542" }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510025.2:c.289C>T" ], "proteinEffect": { "hgvs": "XP_011508327.1:p.Arg97Ter", "hgvsWellDefined": "XP_011508327.1:p.Arg97_Thr420delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541543" }, { "coordinates": [ { "allele": "T", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510026.2:c.652C>T" ], "proteinEffect": { "hgvs": "XP_011508328.1:p.Arg218Ter", "hgvsWellDefined": "XP_011508328.1:p.Arg218_Pro419delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnIleProAlaAlaSerLeuHisPheProLeuLeuLysMetArgHisGlnLeuSerPheLeuLeuHisSerTyrHisIleProIleProPheSerSerLeuProSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541544" }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_017002417.1:c.289C>T" ], "proteinEffect": { "hgvs": "XP_016857906.1:p.Arg97Ter", "hgvsWellDefined": "XP_016857906.1:p.Arg97_Tyr407delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558376" }, { "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_024450038.1:c.94C>T" ], "proteinEffect": { "hgvs": "XP_024305806.1:p.Arg32Ter", "hgvsWellDefined": "XP_024305806.1:p.Arg32_Thr355delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583580" }, { "coordinates": [ { "allele": "T", "end": 277, "referenceAllele": "C", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_024450039.1:c.94C>T" ], "proteinEffect": { "hgvs": "XP_024305807.1:p.Arg32Ter", "hgvsWellDefined": "XP_024305807.1:p.Arg32_Tyr342delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583581" }, { "@id": "http://reg.genome.network/allele/PA2827344249", "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "NM_001330723.2:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001317652.1:p.Arg218Ter", "hgvsWellDefined": "NP_001317652.1:p.Arg218_Thr541delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000458013.7:c.652C>T" }, "RefSeq": { "hgvs": "NM_001330723.2:c.652C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400333.2:p.Arg218Ter" }, "RefSeq": { "hgvs": "NP_001317652.1:p.Arg218Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573286838", "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "NM_030918.6:c.652C>T" ], "proteinEffect": { "hgvs": "NP_112180.4:p.Arg218Ter", "hgvsWellDefined": "NP_112180.4:p.Arg218_Tyr528delinsLeuProGlyLysTrpProPheSerLeuSerGluGlnGlnLeuAspAlaArgArgArgGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698899" } ], "type": "nucleotide" }