{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA368181595", "communityStandardTitle": [ "NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1405367[alleleid]", "alleleId": 1405367, "preferredName": "NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1404606", "RCV": [ "RCV001901725" ], "variationId": 1404606 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.92132419A>T?assembly=hg19", "id": "chr7:g.92132419A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.92503105A>T?assembly=hg38", "id": "chr7:g.92503105A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1792013985", "rs": 1792013985 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-92503105-A-T?dataset=gnomad_r4", "id": "7-92503105-A-T", "variant": "7:92503105 A / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 92503105, "referenceAllele": "A", "start": 92503104 } ], "hgvs": [ "NC_000007.14:g.92503105A>T", "CM000669.2:g.92503105A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 92132419, "referenceAllele": "A", "start": 92132418 } ], "hgvs": [ "NC_000007.13:g.92132419A>T", "CM000669.1:g.92132419A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 91970355, "referenceAllele": "A", "start": 91970354 } ], "hgvs": [ "NC_000007.12:g.91970355A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 30427, "referenceAllele": "T", "start": 30426 } ], "hgvs": [ "NG_008341.1:g.30427T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001042" }, { "coordinates": [ { "allele": "A", "end": 30427, "referenceAllele": "T", "start": 30426 } ], "hgvs": [ "NG_008341.2:g.30427T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673501" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2247, "referenceAllele": "T", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000248633.9:c.2162T>A" ], "proteinEffect": { "hgvs": "ENSP00000248633.4:p.Leu721Ter", "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.2162T>A" }, "RefSeq": { "hgvs": "NM_000466.3:c.2162T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000248633.4:p.Leu721Ter" }, "RefSeq": { "hgvs": "NP_000457.1:p.Leu721Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2258, "referenceAllele": "T", "start": 2257 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000248633.8:c.2162T>A" ], "proteinEffect": { "hgvs": "ENSP00000248633.4:p.Leu721Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS249574" }, { "coordinates": [ { "allele": "A", "end": 1991, "referenceAllele": "T", "start": 1990 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000428214.5:c.1991T>A" ], "proteinEffect": { "hgvs": "ENSP00000394413.1:p.Leu664Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS290087" }, { "coordinates": [ { "allele": "A", "end": 1202, "referenceAllele": "T", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000438045.5:c.1196T>A" ], "proteinEffect": { "hgvs": "ENSP00000410438.1:p.Leu399Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS294744" }, { "coordinates": [ { "allele": "A", "end": 2201, "referenceAllele": "T", "start": 2200 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000484913.5:n.2201T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324059" }, { "coordinates": [ { "allele": "A", "end": 1838, "referenceAllele": "T", "start": 1837 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000496420.5:n.1838T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332889" }, { "@id": "http://reg.genome.network/allele/PA2573169712", "coordinates": [ { "allele": "A", "end": 2258, "referenceAllele": "T", "start": 2257 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_000466.2:c.2162T>A" ], "proteinEffect": { "hgvs": "NP_000457.1:p.Leu721Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006527" }, { "@id": "http://reg.genome.network/allele/PA2826664885", "coordinates": [ { "allele": "A", "end": 2087, "referenceAllele": "T", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282677.1:c.1991T>A" ], "proteinEffect": { "hgvs": "NP_001269606.1:p.Leu664Ter", "hgvsWellDefined": "NP_001269606.1:p.Leu665_Ala1226delinsValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022148" }, { "@id": "http://reg.genome.network/allele/PA2826665729", "coordinates": [ { "allele": "A", "end": 2293, "referenceAllele": "T", "start": 2292 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282678.1:c.1538T>A" ], "proteinEffect": { "hgvs": "NP_001269607.1:p.Leu513Ter", "hgvsWellDefined": "NP_001269607.1:p.Leu514_Ala1075delinsValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022149" }, { "coordinates": [ { "allele": "A", "end": 794, "referenceAllele": "T", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XM_005250433.3:c.413T>A" ], "proteinEffect": { "hgvs": "XP_005250490.1:p.Leu138Ter", "hgvsWellDefined": "XP_005250490.1:p.Leu139_Ala700delinsValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059168" }, { "coordinates": [ { "allele": "A", "end": 2258, "referenceAllele": "T", "start": 2257 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XR_242246.3:n.2258T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116232" }, { "coordinates": [ { "allele": "A", "end": 1189, "referenceAllele": "T", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XM_017012319.2:c.413T>A" ], "proteinEffect": { "hgvs": "XP_016867808.1:p.Leu138Ter", "hgvsWellDefined": "XP_016867808.1:p.Leu139_Ala700delinsValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565949" }, { "coordinates": [ { "allele": "A", "end": 1189, "referenceAllele": "T", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XR_001744808.2:n.1189T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593459" }, { "coordinates": [ { "allele": "A", "end": 2209, "referenceAllele": "T", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XR_242246.5:n.2209T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605897" }, { "@id": "http://reg.genome.network/allele/PA2573169712", "coordinates": [ { "allele": "A", "end": 2247, "referenceAllele": "T", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_000466.3:c.2162T>A" ], "proteinEffect": { "hgvs": "NP_000457.1:p.Leu721Ter", "hgvsWellDefined": "NP_000457.1:p.Leu722_Ala1283delinsValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662453", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000248633.9:c.2162T>A" }, "RefSeq": { "hgvs": "NM_000466.3:c.2162T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000248633.4:p.Leu721Ter" }, "RefSeq": { "hgvs": "NP_000457.1:p.Leu721Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826664885", "coordinates": [ { "allele": "A", "end": 2076, "referenceAllele": "T", "start": 2075 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282677.2:c.1991T>A" ], "proteinEffect": { "hgvs": "NP_001269606.1:p.Leu664Ter", "hgvsWellDefined": "NP_001269606.1:p.Leu665_Ala1226delinsValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681861" }, { "@id": "http://reg.genome.network/allele/PA2826665729", "coordinates": [ { "allele": "A", "end": 2282, "referenceAllele": "T", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282678.2:c.1538T>A" ], "proteinEffect": { "hgvs": "NP_001269607.1:p.Leu513Ter", "hgvsWellDefined": "NP_001269607.1:p.Leu514_Ala1075delinsValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681862" } ], "type": "nucleotide" }