{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA264172", "communityStandardTitle": [ "NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71349[alleleid]", "alleleId": 71349, "preferredName": "NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56710", "RCV": [ "RCV000050123", "RCV001377678", "RCV002483067", "RCV002514269" ], "variationId": 56710 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/8-1719693-A-G", "id": "8-1719693-A-G", "variant": "8:1719693 A / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.1719693A>G?assembly=hg19", "id": "chr8:g.1719693A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.1771527A>G?assembly=hg38", "id": "chr8:g.1771527A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/386834130", "rs": 386834130 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-1719693-A-G?dataset=gnomad_r2_1", "id": "8-1719693-A-G", "variant": "8:1719693 A / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-1771527-A-G?dataset=gnomad_r3", "id": "8-1771527-A-G", "variant": "8:1771527 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-1771527-A-G?dataset=gnomad_r4", "id": "8-1771527-A-G", "variant": "8:1771527 A / G" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "G", "end": 1771527, "referenceAllele": "A", "start": 1771526 } ], "hgvs": [ "NC_000008.11:g.1771527A>G", "CM000670.2:g.1771527A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "G", "end": 1719693, "referenceAllele": "A", "start": 1719692 } ], "hgvs": [ "NC_000008.10:g.1719693A>G", "CM000670.1:g.1719693A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "G", "end": 1707100, "referenceAllele": "A", "start": 1707099 } ], "hgvs": [ "NC_000008.9:g.1707100A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "G", "end": 20750, "referenceAllele": "A", "start": 20749 } ], "hgvs": [ "NG_008656.2:g.20750A>G", "LRG_691:g.20750A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001149" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 693, "referenceAllele": "A", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000331222.6:c.473A>G" ], "proteinEffect": { "hgvs": "ENSP00000328182.4:p.Tyr158Cys", "hgvsWellDefined": "ENSP00000328182.4:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS747132", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331222.6:c.473A>G" }, "RefSeq": { "hgvs": "NM_018941.4:c.473A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000328182.4:p.Tyr158Cys" }, "RefSeq": { "hgvs": "NP_061764.2:p.Tyr158Cys" } } } }, { "coordinates": [ { "allele": "G", "end": 648, "referenceAllele": "A", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000519254.2:c.473A>G" ], "proteinEffect": { "hgvs": "ENSP00000490016.1:p.Tyr158Cys", "hgvsWellDefined": "ENSP00000490016.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS758642" }, { "coordinates": [ { "allele": "G", "end": 650, "referenceAllele": "A", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000520991.3:c.473A>G" ], "proteinEffect": { "hgvs": "ENSP00000487905.2:p.Tyr158Cys", "hgvsWellDefined": "ENSP00000487905.2:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS758710" }, { "coordinates": [ { "allele": "G", "end": 761, "referenceAllele": "A", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000635751.1:c.473A>G" ], "proteinEffect": { "hgvs": "ENSP00000489694.1:p.Tyr158Cys", "hgvsWellDefined": "ENSP00000489694.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762614" }, { "coordinates": [ { "allele": "G", "end": 426, "referenceAllele": "A", "start": 425 } ], "hgvs": [ "ENST00000635773.1:c.426A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS762632" }, { "coordinates": [ { "allele": "G", "end": 650, "referenceAllele": "A", "start": 649 } ], "hgvs": [ "ENST00000635855.1:c.473A>G" ], "proteinEffect": { "hgvs": "ENSP00000489726.1:p.Tyr158Cys", "hgvsWellDefined": "ENSP00000489726.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762685" }, { "coordinates": [ { "allele": "G", "end": 667, "referenceAllele": "A", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000635970.1:c.473A>G" ], "proteinEffect": { "hgvs": "ENSP00000490439.1:p.Tyr158Cys", "hgvsWellDefined": "ENSP00000490439.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762775" }, { "coordinates": [ { "allele": "G", "end": 273, "referenceAllele": "A", "start": 272 } ], "hgvs": [ "ENST00000636175.1:c.273A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS762926" }, { "coordinates": [ { "allele": "G", "end": 682, "referenceAllele": "A", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000636934.1:c.473A>G" ], "proteinEffect": { "hgvs": "ENSP00000490218.1:p.Tyr158Cys", "hgvsWellDefined": "ENSP00000490218.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS763487" }, { "coordinates": [ { "allele": "G", "end": 823, "referenceAllele": "A", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000637083.1:c.473A>G" ], "proteinEffect": { "hgvs": "ENSP00000490235.1:p.Tyr158Cys", "hgvsWellDefined": "ENSP00000490235.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS763598" }, { "coordinates": [ { "allele": "G", "end": 722, "referenceAllele": "A", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000637156.1:c.473A>G" ], "proteinEffect": { "hgvs": "ENSP00000490458.1:p.Tyr158Cys", "hgvsWellDefined": "ENSP00000490458.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS763651" }, { "coordinates": [ { "allele": "G", "end": 720, "referenceAllele": "A", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000331222.4:c.473A>G" ], "proteinEffect": { "hgvs": "ENSP00000328182.4:p.Tyr158Cys", "hgvsWellDefined": "ENSP00000328182.4:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS259362" }, { "coordinates": [ { "allele": "G", "end": 719, "referenceAllele": "A", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000520991.2:c.473A>G" ], "proteinEffect": { "hgvs": "ENSP00000487905.1:p.Tyr158Cys", "hgvsWellDefined": "ENSP00000487905.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS347916" }, { "@id": "http://reg.genome.network/allele/PA104299", "coordinates": [ { "allele": "G", "end": 778, "referenceAllele": "A", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "NM_018941.3:c.473A>G", "LRG_691t1:c.473A>G" ], "proteinEffect": { "hgvs": "NP_061764.2:p.Tyr158Cys", "hgvsWellDefined": "NP_061764.2:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS035953" }, { "coordinates": [ { "allele": "G", "end": 722, "referenceAllele": "A", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266021.3:c.473A>G" ], "proteinEffect": { "hgvs": "XP_005266078.1:p.Tyr158Cys", "hgvsWellDefined": "XP_005266078.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS064891" }, { "coordinates": [ { "allele": "G", "end": 901, "referenceAllele": "A", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266022.1:c.473A>G" ], "proteinEffect": { "hgvs": "XP_005266079.1:p.Tyr158Cys", "hgvsWellDefined": "XP_005266079.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS064892" }, { "coordinates": [ { "allele": "G", "end": 619, "referenceAllele": "A", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266023.1:c.473A>G" ], "proteinEffect": { "hgvs": "XP_005266080.1:p.Tyr158Cys", "hgvsWellDefined": "XP_005266080.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS064893" }, { "coordinates": [ { "allele": "G", "end": 723, "referenceAllele": "A", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534745.1:c.473A>G" ], "proteinEffect": { "hgvs": "XP_011533047.1:p.Tyr158Cys", "hgvsWellDefined": "XP_011533047.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS101757" }, { "coordinates": [ { "allele": "G", "end": 619, "referenceAllele": "A", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534746.1:c.473A>G" ], "proteinEffect": { "hgvs": "XP_011533048.1:p.Tyr158Cys", "hgvsWellDefined": "XP_011533048.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS101758" }, { "coordinates": [ { "allele": "G", "end": 778, "referenceAllele": "A", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534747.1:c.473A>G" ], "proteinEffect": { "hgvs": "XP_011533049.1:p.Tyr158Cys", "hgvsWellDefined": "XP_011533049.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS101759" }, { "coordinates": [ { "allele": "G", "end": 632, "referenceAllele": "A", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266021.4:c.473A>G" ], "proteinEffect": { "hgvs": "XP_005266078.1:p.Tyr158Cys", "hgvsWellDefined": "XP_005266078.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS536158" }, { "coordinates": [ { "allele": "G", "end": 620, "referenceAllele": "A", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534746.2:c.473A>G" ], "proteinEffect": { "hgvs": "XP_011533048.1:p.Tyr158Cys", "hgvsWellDefined": "XP_011533048.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS551739" }, { "coordinates": [ { "allele": "G", "end": 722, "referenceAllele": "A", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534747.2:c.473A>G" ], "proteinEffect": { "hgvs": "XP_011533049.1:p.Tyr158Cys", "hgvsWellDefined": "XP_011533049.1:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS551740" }, { "@id": "http://reg.genome.network/allele/PA104299", "coordinates": [ { "allele": "G", "end": 693, "referenceAllele": "A", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "NM_018941.4:c.473A>G" ], "proteinEffect": { "hgvs": "NP_061764.2:p.Tyr158Cys", "hgvsWellDefined": "NP_061764.2:p.Tyr158Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS698107", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331222.6:c.473A>G" }, "RefSeq": { "hgvs": "NM_018941.4:c.473A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000328182.4:p.Tyr158Cys" }, "RefSeq": { "hgvs": "NP_061764.2:p.Tyr158Cys" } } } } ], "type": "nucleotide" }