{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA392226101", "communityStandardTitle": [ "NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=465093[alleleid]", "alleleId": 465093, "preferredName": "NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/466532", "RCV": [ "RCV000549837" ], "variationId": 466532 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.44887501G>A?assembly=hg19", "id": "chr15:g.44887501G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.44595303G>A?assembly=hg38", "id": "chr15:g.44595303G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1362530862", "rs": 1362530862 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 44595303, "referenceAllele": "G", "start": 44595302 } ], "hgvs": [ "NC_000015.10:g.44595303G>A", "CM000677.2:g.44595303G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 44887501, "referenceAllele": "G", "start": 44887500 } ], "hgvs": [ "NC_000015.9:g.44887501G>A", "CM000677.1:g.44887501G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 42674793, "referenceAllele": "G", "start": 42674792 } ], "hgvs": [ "NC_000015.8:g.42674793G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 73376, "referenceAllele": "C", "start": 73375 } ], "hgvs": [ "NG_008885.1:g.73376C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001280" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4591, "referenceAllele": "C", "start": 4590 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559511.6:c.4591C>T" ], "proteinEffect": { "hgvs": "ENSP00000453246.2:p.Gln1531Ter", "hgvsWellDefined": "ENSP00000453246.2:p.Gln1531_Gly2284delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826071" }, { "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "C", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000561391.2:n.819C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826078" }, { "coordinates": [ { "allele": "T", "end": 4622, "referenceAllele": "C", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682065.1:c.4591C>T" ], "proteinEffect": { "hgvs": "ENSP00000507025.1:p.Gln1531Ter", "hgvsWellDefined": "ENSP00000507025.1:p.Gln1531_Gly2395delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827063" }, { "coordinates": [ { "allele": "T", "end": 4708, "referenceAllele": "C", "start": 4707 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682460.1:c.*1011C>T" ], "proteinEffect": { "hgvs": "ENSP00000508334.1:n.*1011C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827450" }, { "coordinates": [ { "allele": "T", "end": 4747, "referenceAllele": "C", "start": 4746 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682495.1:c.*1083C>T" ], "proteinEffect": { "hgvs": "ENSP00000507166.1:n.*1083C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827485" }, { "coordinates": [ { "allele": "T", "end": 4421, "referenceAllele": "C", "start": 4420 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682669.1:c.4390C>T" ], "proteinEffect": { "hgvs": "ENSP00000507782.1:p.Gln1464Ter", "hgvsWellDefined": "ENSP00000507782.1:p.Gln1464_Gly2376delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827658" }, { "coordinates": [ { "allele": "T", "end": 4606, "referenceAllele": "C", "start": 4605 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682788.1:c.4591C>T" ], "proteinEffect": { "hgvs": "ENSP00000508089.1:p.Gln1531Ter", "hgvsWellDefined": "ENSP00000508089.1:p.Gln1531_Asp1639delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyLysGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827777" }, { "coordinates": [ { "allele": "T", "end": 4488, "endIntronDirection": "+", "endIntronOffset": 757, "referenceAllele": "C", "start": 4488, "startIntronDirection": "+", "startIntronOffset": 756 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683121.1:c.4457+757C>T" ], "proteinEffect": { "hgvs": "ENSP00000507557.1:n.4457+757C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828106" }, { "coordinates": [ { "allele": "T", "end": 4432, "referenceAllele": "C", "start": 4431 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683186.1:c.*1354C>T" ], "proteinEffect": { "hgvs": "ENSP00000507268.1:n.*1354C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828169" }, { "coordinates": [ { "allele": "T", "end": 4622, "referenceAllele": "C", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683496.1:c.4591C>T" ], "proteinEffect": { "hgvs": "ENSP00000506968.1:p.Gln1531Ter", "hgvsWellDefined": "ENSP00000506968.1:p.Gln1531_Ser2004delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828470" }, { "coordinates": [ { "allele": "T", "end": 4606, "referenceAllele": "C", "start": 4605 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683734.1:c.4591C>T" ], "proteinEffect": { "hgvs": "ENSP00000508319.1:p.Gln1531Ter", "hgvsWellDefined": "ENSP00000508319.1:p.Gln1531_Trp1969delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerArgValGlyLeuPheLeuHisArgCysCysCysSerGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828705" }, { "coordinates": [ { "allele": "T", "end": 3637, "referenceAllele": "C", "start": 3636 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683753.1:n.3637C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828724" }, { "coordinates": [ { "allele": "T", "end": 4440, "referenceAllele": "C", "start": 4439 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684038.1:c.*1011C>T" ], "proteinEffect": { "hgvs": "ENSP00000507141.1:n.*1011C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828999" }, { "coordinates": [ { "allele": "T", "end": 4622, "referenceAllele": "C", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684235.1:c.4591C>T" ], "proteinEffect": { "hgvs": "ENSP00000508295.1:p.Gln1531Ter", "hgvsWellDefined": "ENSP00000508295.1:p.Gln1531_His2392delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysIleLeuHisPheTyrLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829192" }, { "coordinates": [ { "allele": "T", "end": 4632, "referenceAllele": "C", "start": 4631 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684676.1:c.4591C>T" ], "proteinEffect": { "hgvs": "ENSP00000506948.1:p.Gln1531Ter", "hgvsWellDefined": "ENSP00000506948.1:p.Gln1531_Pro1873delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaLysHisTrpProGlnGlyLysLeuValTrpArgIleCysThrGlnArgSerMetLeuSerTyrLysValLeuSerCysLeuArgLysLysHisProThrPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829627" }, { "coordinates": [ { "allele": "T", "end": 4606, "referenceAllele": "C", "start": 4605 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000261866.12:c.4591C>T" ], "proteinEffect": { "hgvs": "ENSP00000261866.7:p.Gln1531Ter", "hgvsWellDefined": "ENSP00000261866.7:p.Gln1531_Gly2443delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742228", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.4591C>T" }, "RefSeq": { "hgvs": "NM_025137.4:c.4591C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Gln1531Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Gln1531Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4608, "referenceAllele": "C", "start": 4607 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000261866.11:c.4591C>T" ], "proteinEffect": { "hgvs": "ENSP00000261866.7:p.Gln1531Ter", "hgvsWellDefined": "ENSP00000261866.7:p.Gln1531_Gly2443delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250869" }, { "coordinates": [ { "allele": "T", "end": 4591, "referenceAllele": "C", "start": 4590 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000427534.6:c.4591C>T" ], "proteinEffect": { "hgvs": "ENSP00000396110.2:p.Gln1531Ter", "hgvsWellDefined": "ENSP00000396110.2:p.Gln1531_Thr2265delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpAspIleAsnAsnIleSerLeuLeuThrTrpSerTrpLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS289750" }, { "coordinates": [ { "allele": "T", "end": 4619, "referenceAllele": "C", "start": 4618 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000535302.6:c.4591C>T" ], "proteinEffect": { "hgvs": "ENSP00000445278.2:p.Gln1531Ter", "hgvsWellDefined": "ENSP00000445278.2:p.Gln1531_Gly2330delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerArgHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359651" }, { "coordinates": [ { "allele": "T", "end": 287, "endIntronDirection": "+", "endIntronOffset": 757, "referenceAllele": "C", "start": 287, "startIntronDirection": "+", "startIntronOffset": 756 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558155.1:c.287+757C>T" ], "proteinEffect": { "hgvs": "ENSP00000453238.1:n.287+757C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS373591" }, { "coordinates": [ { "allele": "T", "end": 4622, "referenceAllele": "C", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558319.5:c.4591C>T" ], "proteinEffect": { "hgvs": "ENSP00000453599.1:p.Gln1531Ter", "hgvsWellDefined": "ENSP00000453599.1:p.Gln1531_Leu2079delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyAlaLeuProProGlyAspSerGlnProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373709" }, { "@id": "http://reg.genome.network/allele/PA2825947982", "coordinates": [ { "allele": "T", "end": 4622, "referenceAllele": "C", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.1:c.4591C>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Gln1531Ter", "hgvsWellDefined": "NP_001153699.1:p.Gln1531_Gly2330delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerArgHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014158" }, { "@id": "http://reg.genome.network/allele/PA658661479", "coordinates": [ { "allele": "T", "end": 4622, "referenceAllele": "C", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.3:c.4591C>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Gln1531Ter", "hgvsWellDefined": "NP_079413.3:p.Gln1531_Gly2443delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038221" }, { "coordinates": [ { "allele": "T", "end": 4358, "referenceAllele": "C", "start": 4357 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_005254695.3:c.4333C>T" ], "proteinEffect": { "hgvs": "XP_005254752.1:p.Gln1445Ter", "hgvsWellDefined": "XP_005254752.1:p.Gln1445_Gly2357delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060735" }, { "coordinates": [ { "allele": "T", "end": 4622, "referenceAllele": "C", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720700.1:c.4591C>T" ], "proteinEffect": { "hgvs": "XP_006720763.1:p.Gln1531Ter", "hgvsWellDefined": "XP_006720763.1:p.Gln1531_Gly2395delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073770" }, { "coordinates": [ { "allele": "T", "end": 4622, "referenceAllele": "C", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720701.2:c.4591C>T" ], "proteinEffect": { "hgvs": "XP_006720764.1:p.Gln1531Ter", "hgvsWellDefined": "XP_006720764.1:p.Gln1531_Met1584delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrValGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073771" }, { "coordinates": [ { "allele": "T", "end": 4645, "referenceAllele": "C", "start": 4644 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_931917.1:n.4645C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127986" }, { "coordinates": [ { "allele": "T", "end": 4622, "referenceAllele": "C", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720701.3:c.4591C>T" ], "proteinEffect": { "hgvs": "XP_006720764.1:p.Gln1531Ter", "hgvsWellDefined": "XP_006720764.1:p.Gln1531_Met1584delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrValGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540149" }, { "coordinates": [ { "allele": "T", "end": 4622, "referenceAllele": "C", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022634.1:c.4591C>T" ], "proteinEffect": { "hgvs": "XP_016878123.1:p.Gln1531Ter", "hgvsWellDefined": "XP_016878123.1:p.Gln1531_Gly2407delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573547" }, { "coordinates": [ { "allele": "T", "end": 4622, "referenceAllele": "C", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022635.2:c.4591C>T" ], "proteinEffect": { "hgvs": "XP_016878124.1:p.Gln1531Ter", "hgvsWellDefined": "XP_016878124.1:p.Gln1531_Lys1600delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrSerArgValAsnTyrGluThrIleValThrGluAsnGlnIleLeuValPheGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573548" }, { "coordinates": [ { "allele": "T", "end": 2431, "referenceAllele": "C", "start": 2430 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022636.1:c.1468C>T" ], "proteinEffect": { "hgvs": "XP_016878125.1:p.Gln490Ter", "hgvsWellDefined": "XP_016878125.1:p.Gln490_Gly1402delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573549" }, { "coordinates": [ { "allele": "T", "end": 4645, "referenceAllele": "C", "start": 4644 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_931917.2:n.4645C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610061" }, { "@id": "http://reg.genome.network/allele/PA658661479", "coordinates": [ { "allele": "T", "end": 4606, "referenceAllele": "C", "start": 4605 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.4:c.4591C>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Gln1531Ter", "hgvsWellDefined": "NP_079413.3:p.Gln1531_Gly2443delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670903", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.4591C>T" }, "RefSeq": { "hgvs": "NM_025137.4:c.4591C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Gln1531Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Gln1531Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825947982", "coordinates": [ { "allele": "T", "end": 4606, "referenceAllele": "C", "start": 4605 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.2:c.4591C>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Gln1531Ter", "hgvsWellDefined": "NP_001153699.1:p.Gln1531_Gly2330delinsLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerArgHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678139" } ], "type": "nucleotide" }