{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3389765", "communityStandardTitle": [ "NM_001182.5(ALDH7A1):c.442C>T (p.Gln148Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3141054[alleleid]", "alleleId": 3141054, "preferredName": "NM_001182.5(ALDH7A1):c.442C>T (p.Gln148Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2977229", "RCV": [ "RCV003831347" ], "variationId": 2977229 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-125918618-G-A", "id": "5-125918618-G-A", "variant": "5:125918618 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.125918618G>A?assembly=hg19", "id": "chr5:g.125918618G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.126582926G>A?assembly=hg38", "id": "chr5:g.126582926G>A" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS763452" }, { "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636886.1:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000490371.1:p.Gln81Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS763458" }, { "coordinates": [ { "allele": "T", "end": 56, "referenceAllele": "C", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637070.1:n.56C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763588" }, { "coordinates": [ { "allele": "T", "end": 513, "referenceAllele": "C", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637206.1:c.442C>T" ], "proteinEffect": { "hgvs": "ENSP00000489895.1:p.Gln148Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS763692" }, { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637272.1:c.442C>T" ], "proteinEffect": { "hgvs": "ENSP00000489686.1:p.Gln148Ter", "hgvsWellDefined": "ENSP00000489686.1:p.Gln148_Gln536delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763744" }, { "coordinates": [ { "allele": "T", "end": 95, "referenceAllele": "C", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637292.1:c.95C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763760" }, { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637782.1:c.442C>T" ], "proteinEffect": { "hgvs": "ENSP00000490024.1:p.Gln148Ter", "hgvsWellDefined": "ENSP00000490024.1:p.Gln148_Thr521delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764103" }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637964.1:c.388C>T" ], "proteinEffect": { "hgvs": "ENSP00000490291.1:p.Gln130Ter", "hgvsWellDefined": "ENSP00000490291.1:p.Gln130Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS764243" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "C", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000638008.1:c.*384C>T" ], "proteinEffect": { "hgvs": "ENSP00000490400.1:n.*384C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764271" }, { "coordinates": [ { "allele": "T", "end": 662, "referenceAllele": "C", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000409134.7:c.442C>T" ], "proteinEffect": { "hgvs": "ENSP00000387123.3:p.Gln148Ter", "hgvsWellDefined": "ENSP00000387123.3:p.Gln148_Gln539delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281287" }, { "coordinates": [ { "allele": "T", "end": 462, "referenceAllele": "C", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000413020.5:c.442C>T" ], "proteinEffect": { "hgvs": "ENSP00000487936.1:p.Gln148Ter", "hgvsWellDefined": "ENSP00000487936.1:p.Gln148_Lys294delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGluGlnTrpLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282872" }, { "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000447989.6:c.523C>T" ], "proteinEffect": { "hgvs": "ENSP00000414132.2:p.Gln175Ter", "hgvsWellDefined": "ENSP00000414132.2:p.Gln175_Gln502delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299515" }, { "coordinates": [ { "allele": "T", "end": 602, "referenceAllele": "C", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000458249.5:c.602C>T" ], "proteinEffect": { "hgvs": "ENSP00000403929.1:n.602C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS304317" }, { "coordinates": [ { "allele": "T", "end": 106, "endIntronDirection": "-", "endIntronOffset": 5714, "referenceAllele": "C", "start": 106, "startIntronDirection": "-", "startIntronOffset": 5715 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000503281.5:c.107-5715C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS335632" }, { "coordinates": [ { "allele": "T", "end": 343, "referenceAllele": "C", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000509270.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000449318.1:p.Gln108Ter", "hgvsWellDefined": "ENSP00000449318.1:p.Gln108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS340068" }, { "coordinates": [ { "allele": "T", "end": 65, "endIntronDirection": "-", "endIntronOffset": 5714, "referenceAllele": "C", "start": 65, "startIntronDirection": "-", "startIntronOffset": 5715 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000509459.5:c.66-5715C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS340215" }, { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000510111.6:c.355C>T" ], "proteinEffect": { "hgvs": "ENSP00000447388.1:p.Gln119Ter", "hgvsWellDefined": "ENSP00000447388.1:p.Gln119_Leu240del" }, "referenceSequence": "http://reg.genome.network/refseq/RS340714" }, { "coordinates": [ { "allele": "T", "end": 348, "endIntronDirection": "+", "endIntronOffset": 1006, "referenceAllele": "C", "start": 348, "startIntronDirection": "+", "startIntronOffset": 1005 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000511266.5:n.348+1006C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS341573" }, { "coordinates": [ { "allele": "T", "end": 580, "referenceAllele": "C", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000553117.5:c.442C>T" ], "proteinEffect": { "hgvs": "ENSP00000448593.1:p.Gln148Ter", "hgvsWellDefined": "ENSP00000448593.1:p.Gln148_Gln475delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS369644" }, { "@id": "http://reg.genome.network/allele/PA2826115282", "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.4:c.442C>T" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Gln148Ter", "hgvsWellDefined": "NP_001173.2:p.Gln148_Gln539delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015905" }, { "@id": "http://reg.genome.network/allele/PA2826253216", "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.1:c.358C>T" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Gln120Ter", "hgvsWellDefined": "NP_001188306.1:p.Gln120_Gln511delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017329" }, { "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.1:c.523C>T" ], "proteinEffect": { "hgvs": "NP_001189333.1:p.Gln175Ter", "hgvsWellDefined": "NP_001189333.1:p.Gln175_Gln502delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017389" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "XM_011543417.1:c.37C>T" ], "proteinEffect": { "hgvs": "XP_011541719.1:p.Gln13Ter", "hgvsWellDefined": "XP_011541719.1:p.Gln13_Gln404delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110339" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "XM_011543417.2:c.37C>T" ], "proteinEffect": { "hgvs": "XP_011541719.1:p.Gln13Ter", "hgvsWellDefined": "XP_011541719.1:p.Gln13_Gln404delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555214" }, { "@id": "http://reg.genome.network/allele/PA2826115282", "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.5:c.442C>T" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Gln148Ter", "hgvsWellDefined": "NP_001173.2:p.Gln148_Gln539delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663920", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409134.8:c.442C>T" }, "RefSeq": { "hgvs": "NM_001182.5:c.442C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387123.3:p.Gln148Ter" }, "RefSeq": { "hgvs": "NP_001173.2:p.Gln148Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826253216", "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.2:c.358C>T" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Gln120Ter", "hgvsWellDefined": "NP_001188306.1:p.Gln120_Gln511delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679672" }, { "@id": "http://reg.genome.network/allele/PA2741843192", "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.2:c.442C>T" ], "proteinEffect": { "hgvs": "NP_001189333.2:p.Gln148Ter", "hgvsWellDefined": "NP_001189333.2:p.Gln148_Gln475delinsGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679696" } ], "type": "nucleotide" }