{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA369952987", "communityStandardTitle": [ "NM_018941.4(CLN8):c.159C>G (p.Tyr53Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.1719379C>G?assembly=hg19", "id": "chr8:g.1719379C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.1771213C>G?assembly=hg38", "id": "chr8:g.1771213C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/780551031", "rs": 780551031 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-1719379-C-G?dataset=gnomad_r2_1", "id": "8-1719379-C-G", "variant": "8:1719379 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-1771213-C-G?dataset=gnomad_r4", "id": "8-1771213-C-G", "variant": "8:1771213 C / G" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "G", "end": 1771213, "referenceAllele": "C", "start": 1771212 } ], "hgvs": [ "NC_000008.11:g.1771213C>G", "CM000670.2:g.1771213C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "G", "end": 1719379, "referenceAllele": "C", "start": 1719378 } ], "hgvs": [ "NC_000008.10:g.1719379C>G", "CM000670.1:g.1719379C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "G", "end": 1706786, "referenceAllele": "C", "start": 1706785 } ], "hgvs": [ "NC_000008.9:g.1706786C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "G", "end": 20436, "referenceAllele": "C", "start": 20435 } ], "hgvs": [ "NG_008656.2:g.20436C>G", "LRG_691:g.20436C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001149" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000331222.6:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000328182.4:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000328182.4:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747132", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331222.6:c.159C>G" }, "RefSeq": { "hgvs": "NM_018941.4:c.159C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000328182.4:p.Tyr53Ter" }, "RefSeq": { "hgvs": "NP_061764.2:p.Tyr53Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 334, "referenceAllele": "C", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000519254.2:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000490016.1:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000490016.1:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758642" }, { "coordinates": [ { "allele": "G", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000520991.3:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000487905.2:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000487905.2:p.Tyr53_Gly216delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgArgAlaGlyProSerLeuCysPheGlySerSerThrSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758710" }, { "coordinates": [ { "allele": "G", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000524258.2:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000488898.2:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000488898.2:p.Tyr53_Val136del" }, "referenceSequence": "http://reg.genome.network/refseq/RS758843" }, { "coordinates": [ { "allele": "G", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000635751.1:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000489694.1:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000489694.1:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762614" }, { "coordinates": [ { "allele": "G", "end": 112, "referenceAllele": "C", "start": 111 } ], "hgvs": [ "ENST00000635773.1:c.112C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS762632" }, { "coordinates": [ { "allele": "G", "end": 336, "referenceAllele": "C", "start": 335 } ], "hgvs": [ "ENST00000635855.1:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000489726.1:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000489726.1:p.Tyr53_Lys212delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluLeuLeuProLeuThrGluLeuArgGluAlaSerGlyAlaAlaAlaTrpThrSerGluSerProCysLeuProLeuLeuGlnLysMetLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762685" }, { "coordinates": [ { "allele": "G", "end": 353, "referenceAllele": "C", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000635970.1:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000490439.1:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000490439.1:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762775" }, { "coordinates": [ { "allele": "G", "end": 368, "referenceAllele": "C", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000636934.1:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000490218.1:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000490218.1:p.Tyr53_Glu216delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluSerTrpValIleGlyThrGlnGlyAlaGluAsnAlaLeuAlaSerAspSerArgSerValGlnIleGlnSerPheSerHisProGlnGluLeuProProGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763487" }, { "coordinates": [ { "allele": "G", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000637083.1:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000490235.1:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000490235.1:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763598" }, { "coordinates": [ { "allele": "G", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000637156.1:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000490458.1:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000490458.1:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763651" }, { "coordinates": [ { "allele": "G", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000637594.1:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000489999.1:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000489999.1:p.Tyr53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS763972" }, { "coordinates": [ { "allele": "G", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000331222.4:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000328182.4:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000328182.4:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259362" }, { "coordinates": [ { "allele": "G", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000520991.2:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000487905.1:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000487905.1:p.Tyr53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS347916" }, { "coordinates": [ { "allele": "G", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000524258.1:c.159C>G" ], "proteinEffect": { "hgvs": "ENSP00000488898.1:p.Tyr53Ter", "hgvsWellDefined": "ENSP00000488898.1:p.Tyr53_Ala80del" }, "referenceSequence": "http://reg.genome.network/refseq/RS350461" }, { "@id": "http://reg.genome.network/allele/PA2580423158", "coordinates": [ { "allele": "G", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "NM_018941.3:c.159C>G", "LRG_691t1:c.159C>G" ], "proteinEffect": { "hgvs": "NP_061764.2:p.Tyr53Ter", "hgvsWellDefined": "NP_061764.2:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035953" }, { "coordinates": [ { "allele": "G", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266021.3:c.159C>G" ], "proteinEffect": { "hgvs": "XP_005266078.1:p.Tyr53Ter", "hgvsWellDefined": "XP_005266078.1:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064891" }, { "coordinates": [ { "allele": "G", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266022.1:c.159C>G" ], "proteinEffect": { "hgvs": "XP_005266079.1:p.Tyr53Ter", "hgvsWellDefined": "XP_005266079.1:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064892" }, { "coordinates": [ { "allele": "G", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266023.1:c.159C>G" ], "proteinEffect": { "hgvs": "XP_005266080.1:p.Tyr53Ter", "hgvsWellDefined": "XP_005266080.1:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064893" }, { "coordinates": [ { "allele": "G", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534745.1:c.159C>G" ], "proteinEffect": { "hgvs": "XP_011533047.1:p.Tyr53Ter", "hgvsWellDefined": "XP_011533047.1:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101757" }, { "coordinates": [ { "allele": "G", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534746.1:c.159C>G" ], "proteinEffect": { "hgvs": "XP_011533048.1:p.Tyr53Ter", "hgvsWellDefined": "XP_011533048.1:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101758" }, { "coordinates": [ { "allele": "G", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534747.1:c.159C>G" ], "proteinEffect": { "hgvs": "XP_011533049.1:p.Tyr53Ter", "hgvsWellDefined": "XP_011533049.1:p.Tyr53_Val263delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgTrpValAspAspIleSerProSerLysValHisCysSerValAsnSerThrAspCysSerCysIleThrThrMetAspThrSerArgValSerAspThrValLeuAlaProGlyAsnSerArgArgAsnLeuCysSerTrpCysProLeuArgLeuAlaProSerGlyThrArgTrpGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101759" }, { "coordinates": [ { "allele": "G", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266021.4:c.159C>G" ], "proteinEffect": { "hgvs": "XP_005266078.1:p.Tyr53Ter", "hgvsWellDefined": "XP_005266078.1:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536158" }, { "coordinates": [ { "allele": "G", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534746.2:c.159C>G" ], "proteinEffect": { "hgvs": "XP_011533048.1:p.Tyr53Ter", "hgvsWellDefined": "XP_011533048.1:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551739" }, { "coordinates": [ { "allele": "G", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534747.2:c.159C>G" ], "proteinEffect": { "hgvs": "XP_011533049.1:p.Tyr53Ter", "hgvsWellDefined": "XP_011533049.1:p.Tyr53_Val263delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgTrpValAspAspIleSerProSerLysValHisCysSerValAsnSerThrAspCysSerCysIleThrThrMetAspThrSerArgValSerAspThrValLeuAlaProGlyAsnSerArgArgAsnLeuCysSerTrpCysProLeuArgLeuAlaProSerGlyThrArgTrpGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551740" }, { "@id": "http://reg.genome.network/allele/PA2580423158", "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "NM_018941.4:c.159C>G" ], "proteinEffect": { "hgvs": "NP_061764.2:p.Tyr53Ter", "hgvsWellDefined": "NP_061764.2:p.Tyr53_Pro286delinsArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698107", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331222.6:c.159C>G" }, "RefSeq": { "hgvs": "NM_018941.4:c.159C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000328182.4:p.Tyr53Ter" }, "RefSeq": { "hgvs": "NP_061764.2:p.Tyr53Ter" } } } } ], "type": "nucleotide" }