{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA360733920", "communityStandardTitle": [ "NM_001182.5(ALDH7A1):c.65G>A (p.Trp22Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.125930826C>T?assembly=hg19", "id": "chr5:g.125930826C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.126595134C>T?assembly=hg38", "id": "chr5:g.126595134C>T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 126595134, "referenceAllele": "C", "start": 126595133 } ], "hgvs": [ "NC_000005.10:g.126595134C>T", "CM000667.2:g.126595134C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 125930826, "referenceAllele": "C", "start": 125930825 } ], "hgvs": [ "NC_000005.9:g.125930826C>T", "CM000667.1:g.125930826C>T" ], 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"proteinEffect": { "hgvs": "ENSP00000387123.3:p.Trp22Ter", "hgvsWellDefined": "ENSP00000387123.3:p.Trp22_Gln539delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754267", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409134.8:c.65G>A" }, "RefSeq": { "hgvs": "NM_001182.5:c.65G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387123.3:p.Trp22Ter" }, "RefSeq": { "hgvs": "NP_001173.2:p.Trp22Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 65, "referenceAllele": "G", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000412186.2:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000414536.2:p.Trp22Ter", "hgvsWellDefined": "ENSP00000414536.2:p.Trp22_His136delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuAspLeuAlaMetHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754489" }, { "coordinates": [ { "allele": "A", "end": 85, "referenceAllele": "G", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000413020.6:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000487936.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000487936.1:p.Trp22_Lys294delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGluGlnTrpLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754518" }, { "coordinates": [ { "allele": "A", "end": 99, "referenceAllele": "G", "start": 98 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000458249.6:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000403929.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000403929.1:p.Trp22_Ala97delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluPheAlaSerLeuAspValProLysSerCysHisValValArgTrpAlaValAsnSerPheGluAspTrpIlePheSerIleSerProLeuProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756631" }, { "coordinates": [ { "allele": "A", "end": 92, "referenceAllele": "G", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000509270.2:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000449318.2:p.Trp22Ter", "hgvsWellDefined": "ENSP00000449318.2:p.Trp22_Leu194del" }, "referenceSequence": "http://reg.genome.network/refseq/RS758173" }, { "coordinates": [ { "allele": "A", "end": 63, "referenceAllele": "G", "start": 62 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000635851.1:c.63G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762683" }, { "coordinates": [ { "allele": "A", "end": 94, "referenceAllele": "G", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000635933.1:n.94G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762746" }, { "coordinates": [ { "allele": "A", "end": 81, "referenceAllele": "G", "start": 80 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636225.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000490797.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000490797.1:p.Trp22_Phe77delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluGlyLeuArgPheLeuTyrMetIleIleIleLeuLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762965" }, { "coordinates": [ { "allele": "A", "end": 86, "referenceAllele": "G", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636743.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000489725.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000489725.1:p.Trp22_Gln499delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763348" }, { "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "G", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636808.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000490833.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000490833.1:p.Trp22_Phe77delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluGlyLeuArgPheLeuTyrMetIleIleIleLeuLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763396" }, { "coordinates": [ { "allele": "A", "end": 65, "referenceAllele": "G", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636872.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000490919.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000490919.1:p.Trp22_Ala97delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluPheAlaSerLeuAspValProLysSerCysHisValValArgTrpAlaValAsnSerPheGluAspTrpIlePheSerIleSerProLeuProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763447" }, { "coordinates": [ { "allele": "A", "end": 86, "referenceAllele": "G", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636879.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000490811.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000490811.1:p.Trp22_Gln554delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerCysCysValValGlnAlaGlyLeuLysLeuLeuSerSerArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763452" }, { "coordinates": [ { "allele": "A", "end": 92, "referenceAllele": "G", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636886.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000490371.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000490371.1:p.Trp22_Gln472delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763458" }, { "coordinates": [ { "allele": "A", "end": 136, "referenceAllele": "G", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637206.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000489895.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000489895.1:p.Trp22_Gln479delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763692" }, { "coordinates": [ { "allele": "A", "end": 86, "referenceAllele": "G", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637272.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000489686.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000489686.1:p.Trp22_Gln536delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763744" }, { "coordinates": [ { "allele": "A", "end": 86, "referenceAllele": "G", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637782.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000490024.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000490024.1:p.Trp22_Thr521delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764103" }, { "coordinates": [ { "allele": "A", "end": 85, "referenceAllele": "G", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637964.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000490291.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000490291.1:p.Trp22Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS764243" }, { "coordinates": [ { "allele": "A", "end": 96, "referenceAllele": "G", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000638008.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000490400.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000490400.1:p.Trp22_Phe77delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluGlyLeuArgPheLeuTyrMetIleIleIleLeuLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764271" }, { "coordinates": [ { "allele": "A", "end": 285, "referenceAllele": "G", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000409134.7:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000387123.3:p.Trp22Ter", "hgvsWellDefined": "ENSP00000387123.3:p.Trp22_Gln539delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281287" }, { "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "G", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000412186.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000414536.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000414536.1:p.Trp22_Phe77delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluGlyLeuArgPheLeuTyrMetIleIleIleLeuLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282497" }, { "coordinates": [ { "allele": "A", "end": 85, "referenceAllele": "G", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000413020.5:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000487936.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000487936.1:p.Trp22_Lys294delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGluGlnTrpLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282872" }, { "coordinates": [ { "allele": "A", "end": 257, "referenceAllele": "G", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000447989.6:c.146G>A" ], "proteinEffect": { "hgvs": "ENSP00000414132.2:p.Trp49Ter", "hgvsWellDefined": "ENSP00000414132.2:p.Trp49_Gln502delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299515" }, { "coordinates": [ { "allele": "A", "end": 65, "referenceAllele": "G", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000458249.5:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000403929.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000403929.1:p.Trp22_Ala97delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluPheAlaSerLeuAspValProLysSerCysHisValValArgTrpAlaValAsnSerPheGluAspTrpIlePheSerIleSerProLeuProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304317" }, { "coordinates": [ { "allele": "A", "end": 86, "referenceAllele": "G", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000509270.1:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000449318.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000449318.1:p.Trp22Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS340068" }, { "coordinates": [ { "allele": "A", "end": 59, "referenceAllele": "G", "start": 58 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000510111.6:c.59G>A" ], "proteinEffect": { "hgvs": "ENSP00000447388.1:p.Trp20Ter", "hgvsWellDefined": "ENSP00000447388.1:p.Trp20_Leu240del" }, "referenceSequence": "http://reg.genome.network/refseq/RS340714" }, { "coordinates": [ { "allele": "A", "end": 20, "referenceAllele": "G", "start": 19 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000511266.5:n.20G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS341573" }, { "coordinates": [ { "allele": "A", "end": 203, "referenceAllele": "G", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000553117.5:c.65G>A" ], "proteinEffect": { "hgvs": "ENSP00000448593.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000448593.1:p.Trp22_Gln475delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS369644" }, { "@id": "http://reg.genome.network/allele/PA2826114985", "coordinates": [ { "allele": "A", "end": 257, "referenceAllele": "G", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.4:c.65G>A" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Trp22Ter", "hgvsWellDefined": "NP_001173.2:p.Trp22_Gln539delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015905" }, { "coordinates": [ { "allele": "A", "end": 257, "referenceAllele": "G", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.1:c.-20G>A" ], "proteinEffect": { "hgvs": "NP_001188306.1:n.-20G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS017329" }, { "coordinates": [ { "allele": "A", "end": 257, "referenceAllele": "G", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.1:c.146G>A" ], "proteinEffect": { "hgvs": "NP_001189333.1:p.Trp49Ter", "hgvsWellDefined": "NP_001189333.1:p.Trp49_Gln502delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017389" }, { "@id": "http://reg.genome.network/allele/PA2826114985", "coordinates": [ { "allele": "A", "end": 86, "referenceAllele": "G", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.5:c.65G>A" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Trp22Ter", "hgvsWellDefined": "NP_001173.2:p.Trp22_Gln539delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663920", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409134.8:c.65G>A" }, "RefSeq": { "hgvs": "NM_001182.5:c.65G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387123.3:p.Trp22Ter" }, "RefSeq": { "hgvs": "NP_001173.2:p.Trp22Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 86, "referenceAllele": "G", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.2:c.-20G>A" ], "proteinEffect": { "hgvs": "NP_001188306.1:n.-20G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS679672" }, { "@id": "http://reg.genome.network/allele/PA2580171860", "coordinates": [ { "allele": "A", "end": 86, "referenceAllele": "G", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.2:c.65G>A" ], "proteinEffect": { "hgvs": "NP_001189333.2:p.Trp22Ter", "hgvsWellDefined": "NP_001189333.2:p.Trp22_Gln475delinsSerArgProAlaAlaPheMetSerThrLeuLeuIleAsnGlnProGlnTyrAlaTrpLeuLysGluLeuGlyLeuArgGluGluAsnGluGlyValTyrAsnGlySerTrpGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679696" } ], "type": "nucleotide" }