{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401093534", "communityStandardTitle": [ "NM_199242.3(UNC13D):c.1721C>G (p.Ser574Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3142983[alleleid]", "alleleId": 3142983, "preferredName": "NM_199242.3(UNC13D):c.1721C>G (p.Ser574Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2985199", "RCV": [ "RCV003848326" ], "variationId": 2985199 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73831734G>C?assembly=hg19", "id": "chr17:g.73831734G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75835653G>C?assembly=hg38", "id": "chr17:g.75835653G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/981574088", "rs": 981574088 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-73831734-G-C?dataset=gnomad_r2_1", "id": "17-73831734-G-C", "variant": "17:73831734 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75835653-G-C?dataset=gnomad_r4", "id": "17-75835653-G-C", "variant": "17:75835653 G / C" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 75835653, "referenceAllele": "G", "start": 75835652 } ], "hgvs": [ "NC_000017.11:g.75835653G>C", "CM000679.2:g.75835653G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 73831734, "referenceAllele": "G", "start": 73831733 } ], "hgvs": [ "NC_000017.10:g.73831734G>C", "CM000679.1:g.73831734G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 71343329, "referenceAllele": "G", "start": 71343328 } ], "hgvs": [ "NC_000017.9:g.71343329G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "G", "end": 14065, "referenceAllele": "C", "start": 14064 } ], "hgvs": [ "NG_007266.1:g.14065C>G", "LRG_122:g.14065C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000514" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000699510.1:c.656C>G" ], "proteinEffect": { "hgvs": "ENSP00000514405.1:p.Ser219Ter", "hgvsWellDefined": "ENSP00000514405.1:p.Ser219_Pro712delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910398" }, { "coordinates": [ { "allele": "G", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000699511.1:c.898C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910399" }, { "coordinates": [ { "allele": "G", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000207549.9:c.1721C>G" ], "proteinEffect": { "hgvs": "ENSP00000207549.3:p.Ser574Ter", "hgvsWellDefined": "ENSP00000207549.3:p.Ser574_Pro1090delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740189", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000207549.9:c.1721C>G" }, "RefSeq": { "hgvs": "NM_199242.3:c.1721C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000207549.3:p.Ser574Ter" }, "RefSeq": { "hgvs": "NP_954712.1:p.Ser574Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2101, "referenceAllele": "C", "start": 2100 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000207549.8:c.1721C>G" ], "proteinEffect": { "hgvs": "ENSP00000207549.3:p.Ser574Ter", "hgvsWellDefined": "ENSP00000207549.3:p.Ser574_Pro1090delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247840" }, { "coordinates": [ { "allele": "G", "end": 1734, "referenceAllele": "C", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000412096.6:c.1721C>G" ], "proteinEffect": { "hgvs": "ENSP00000388093.1:p.Ser574Ter", "hgvsWellDefined": "ENSP00000388093.1:p.Ser574_Tyr1142delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnGlyIleGlyProSerValSerTrpProTrpProIleCysLeuLeuAlaPheLeuPheGlnProLeuGlyTrpGlyProGlySerLeuGlyProGlyLeuGlnAlaGlnSerLeuLeuGluLysGlyGluGlyThrLeuProLysMetArgLeuGlnLeuProTrpGlyGluGlyGlyGlyHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282458" }, { "coordinates": [ { "allele": "G", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000586147.1:c.449C>G" ], "proteinEffect": { "hgvs": "ENSP00000466543.1:p.Ser150Ter", "hgvsWellDefined": "ENSP00000466543.1:p.Ser150Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS389201" }, { "coordinates": [ { "allele": "G", "end": 1991, "referenceAllele": "C", "start": 1990 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000591563.5:n.1991C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS392953" }, { "@id": "http://reg.genome.network/allele/PA2742031232", "coordinates": [ { "allele": "G", "end": 2101, "referenceAllele": "C", "start": 2100 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.2:c.1721C>G", "LRG_122t1:c.1721C>G" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Ser574Ter", "hgvsWellDefined": "NP_954712.1:p.Ser574_Pro1090delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044881" }, { "coordinates": [ { "allele": "G", "end": 1734, "referenceAllele": "C", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.1:c.1721C>G" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Ser574Ter", "hgvsWellDefined": "XP_011522806.1:p.Ser574_Pro1113delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091628" }, { "coordinates": [ { "allele": "G", "end": 1734, "referenceAllele": "C", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524505.1:c.1721C>G" ], "proteinEffect": { "hgvs": "XP_011522807.1:p.Ser574Ter", "hgvsWellDefined": "XP_011522807.1:p.Ser574_Pro1113delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091629" }, { "coordinates": [ { "allele": "G", "end": 1731, "referenceAllele": "C", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524506.1:c.1718C>G" ], "proteinEffect": { "hgvs": "XP_011522808.1:p.Ser573Ter", "hgvsWellDefined": "XP_011522808.1:p.Ser573_Pro1112delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091630" }, { "coordinates": [ { "allele": "G", "end": 2184, "referenceAllele": "C", "start": 2183 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.1:c.1112C>G" ], "proteinEffect": { "hgvs": "XP_011522809.1:p.Ser371Ter", "hgvsWellDefined": "XP_011522809.1:p.Ser371_Pro910delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091631" }, { "coordinates": [ { "allele": "G", "end": 1170, "referenceAllele": "C", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524508.1:c.1112C>G" ], "proteinEffect": { "hgvs": "XP_011522810.1:p.Ser371Ter", "hgvsWellDefined": "XP_011522810.1:p.Ser371_Pro910delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091632" }, { "coordinates": [ { "allele": "G", "end": 1793, "referenceAllele": "C", "start": 1792 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.2:c.1721C>G" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Ser574Ter", "hgvsWellDefined": "XP_011522806.1:p.Ser574_Pro1113delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547490" }, { "coordinates": [ { "allele": "G", "end": 2131, "referenceAllele": "C", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.2:c.1112C>G" ], "proteinEffect": { "hgvs": "XP_011522809.1:p.Ser371Ter", "hgvsWellDefined": "XP_011522809.1:p.Ser371_Pro910delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547491" }, { "coordinates": [ { "allele": "G", "end": 1206, "referenceAllele": "C", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_024450640.1:c.1112C>G" ], "proteinEffect": { "hgvs": "XP_024306408.1:p.Ser371Ter", "hgvsWellDefined": "XP_024306408.1:p.Ser371_Pro910delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584174" }, { "@id": "http://reg.genome.network/allele/PA2742031232", "coordinates": [ { "allele": "G", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.3:c.1721C>G" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Ser574Ter", "hgvsWellDefined": "NP_954712.1:p.Ser574_Pro1090delinsGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729979", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000207549.9:c.1721C>G" }, "RefSeq": { "hgvs": "NM_199242.3:c.1721C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000207549.3:p.Ser574Ter" }, "RefSeq": { "hgvs": "NP_954712.1:p.Ser574Ter" } } } } ], "type": "nucleotide" }