{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA161968969", "communityStandardTitle": [ "NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1315140[alleleid]", "alleleId": 1315140, "preferredName": "NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1324876", "RCV": [ "RCV001782596", "RCV001885188" ], "variationId": 1324876 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.92140966G>A?assembly=hg19", "id": "chr7:g.92140966G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.92511652G>A?assembly=hg38", "id": "chr7:g.92511652G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/758402265", "rs": 758402265 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-92511652-G-A?dataset=gnomad_r4", "id": "7-92511652-G-A", "variant": "7:92511652 G / A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 92511652, "referenceAllele": "G", "start": 92511651 } ], "hgvs": [ "NC_000007.14:g.92511652G>A", "CM000669.2:g.92511652G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 92140966, "referenceAllele": "G", "start": 92140965 } ], "hgvs": [ "NC_000007.13:g.92140966G>A", "CM000669.1:g.92140966G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 91978902, "referenceAllele": "G", "start": 91978901 } ], "hgvs": [ "NC_000007.12:g.91978902G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 21880, "referenceAllele": "C", "start": 21879 } ], "hgvs": [ "NG_008341.1:g.21880C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001042" }, { "coordinates": [ { "allele": "T", "end": 21880, "referenceAllele": "C", "start": 21879 } ], "hgvs": [ "NG_008341.2:g.21880C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673501" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000248633.9:c.1411C>T" ], "proteinEffect": { "hgvs": "ENSP00000248633.4:p.Gln471Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS741373", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000248633.9:c.1411C>T" }, "RefSeq": { "hgvs": "NM_000466.3:c.1411C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000248633.4:p.Gln471Ter" }, "RefSeq": { "hgvs": "NP_000457.1:p.Gln471Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000248633.8:c.1411C>T" ], "proteinEffect": { "hgvs": "ENSP00000248633.4:p.Gln471Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS249574" }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000422866.1:c.312C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS287476" }, { "coordinates": [ { "allele": "T", "end": 1411, "referenceAllele": "C", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000428214.5:c.1411C>T" ], "proteinEffect": { "hgvs": "ENSP00000394413.1:p.Gln471Ter", "hgvsWellDefined": "ENSP00000394413.1:p.Gln472_Ala1226delinsSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290087" }, { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000438045.5:c.445C>T" ], "proteinEffect": { "hgvs": "ENSP00000410438.1:p.Gln149Ter", "hgvsWellDefined": "ENSP00000410438.1:p.Gln150_Ala961delinsSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294744" }, { "coordinates": [ { "allele": "T", "end": 172, "referenceAllele": "C", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000476923.1:n.172C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317859" }, { "coordinates": [ { "allele": "T", "end": 1450, "referenceAllele": "C", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000484913.5:n.1450C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324059" }, { "@id": "http://reg.genome.network/allele/PA2825183101", "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_000466.2:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_000457.1:p.Gln471Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006527" }, { "@id": "http://reg.genome.network/allele/PA2573069260", "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282677.1:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_001269606.1:p.Gln471Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS022148" }, { "@id": "http://reg.genome.network/allele/PA2826665491", "coordinates": [ { "allele": "T", "end": 1542, "referenceAllele": "C", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282678.1:c.787C>T" ], "proteinEffect": { "hgvs": "NP_001269607.1:p.Gln263Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS022149" }, { "coordinates": [ { "allele": "T", "end": 126, "referenceAllele": "C", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XM_005250433.3:c.-256C>T" ], "proteinEffect": { "hgvs": "XP_005250490.1:n.-256C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS059168" }, { "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XR_242246.3:n.1507C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116232" }, { "coordinates": [ { "allele": "T", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XM_017012319.2:c.-256C>T" ], "proteinEffect": { "hgvs": "XP_016867808.1:n.-256C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS565949" }, { "coordinates": [ { "allele": "T", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XR_001744808.2:n.521C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS593459" }, { "coordinates": [ { "allele": "T", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XR_242246.5:n.1458C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605897" }, { "@id": "http://reg.genome.network/allele/PA2825183101", "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_000466.3:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_000457.1:p.Gln471Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS662453", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000248633.9:c.1411C>T" }, "RefSeq": { "hgvs": "NM_000466.3:c.1411C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000248633.4:p.Gln471Ter" }, "RefSeq": { "hgvs": "NP_000457.1:p.Gln471Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573069260", "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282677.2:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_001269606.1:p.Gln471Ter", "hgvsWellDefined": "NP_001269606.1:p.Gln472_Ala1226delinsSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681861" }, { "@id": "http://reg.genome.network/allele/PA2826665491", "coordinates": [ { "allele": "T", "end": 1531, "referenceAllele": "C", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282678.2:c.787C>T" ], "proteinEffect": { "hgvs": "NP_001269607.1:p.Gln263Ter", "hgvsWellDefined": "NP_001269607.1:p.Gln264_Ala1075delinsSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681862" } ], "type": "nucleotide" }