{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA373761319", "communityStandardTitle": [ "NM_001201380.3(CNTNAP3B):c.3589G>C (p.Val1197Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2200699[alleleid]", "alleleId": 2200699, "preferredName": "NM_001201380.3(CNTNAP3B):c.3589G>C (p.Val1197Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2209906", "RCV": [ "RCV004081356" ], "variationId": 2209906 } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.41898853C>G?assembly=hg38", "id": "chr9:g.41898853C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1556196313", "rs": 1556196313 }, { "@id": "http://www.ncbi.nlm.nih.gov/snp/2489596997", "rs": 2489596997 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 41898853, "referenceAllele": "C", "start": 41898852 } ], "hgvs": [ "NC_000009.12:g.41898853C>G", "CM000671.2:g.41898853C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 3921, "referenceAllele": "G", "start": 3920 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "ENST00000377561.7:c.3589G>C" ], "proteinEffect": { "hgvs": "ENSP00000478671.2:p.Val1197Leu", "hgvsWellDefined": "ENSP00000478671.2:p.Val1197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS751932", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000377561.7:c.3589G>C" }, "RefSeq": { "hgvs": "NM_001201380.3:c.3589G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000478671.2:p.Val1197Leu" }, "RefSeq": { "hgvs": "NP_001188309.2:p.Val1197Leu" } } } }, { "coordinates": [ { "allele": "C", "end": 3982, "referenceAllele": "G", "start": 3981 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "ENST00000377561.6:c.3589G>C" ], "proteinEffect": { "hgvs": "ENSP00000478671.1:p.Val1197Leu", "hgvsWellDefined": "ENSP00000478671.1:p.Val1197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS271642" }, { "coordinates": [ { "allele": "C", "end": 1092, "referenceAllele": "G", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "ENST00000467854.1:n.1092G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS310913" }, { "coordinates": [ { "allele": "C", "end": 347, "endIntronDirection": "-", "endIntronOffset": 319, "referenceAllele": "G", "start": 347, "startIntronDirection": "-", "startIntronOffset": 320 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "ENST00000476961.5:c.348-320G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS317890" }, { "coordinates": [ { "allele": "C", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "ENST00000484254.1:n.620G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS323546" }, { "coordinates": [ { "allele": "C", "end": 3502, "referenceAllele": "G", "start": 3501 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "ENST00000612828.4:c.3346G>C" ], "proteinEffect": { "hgvs": "ENSP00000483830.1:p.Val1116Leu", "hgvsWellDefined": "ENSP00000483830.1:p.Val1116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS401475" }, { "coordinates": [ { "allele": "C", "end": 3410, "referenceAllele": "G", "start": 3409 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "ENST00000619138.4:c.*353G>C" ], "proteinEffect": { "hgvs": "ENSP00000482254.1:n.*353G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS404242" }, { "@id": "http://reg.genome.network/allele/PA2580171326", "coordinates": [ { "allele": "C", "end": 3999, "referenceAllele": "G", "start": 3998 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "NM_001201380.2:c.3589G>C" ], "proteinEffect": { "hgvs": "NP_001188309.2:p.Val1197Leu", "hgvsWellDefined": "NP_001188309.2:p.Val1197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017330" }, { "coordinates": [ { "allele": "C", "end": 4027, "referenceAllele": "G", "start": 4026 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "XM_006716853.2:c.3619G>C" ], "proteinEffect": { "hgvs": "XP_006716916.1:p.Val1207Leu", "hgvsWellDefined": "XP_006716916.1:p.Val1207Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS071876" }, { "coordinates": [ { "allele": "C", "end": 3994, "referenceAllele": "G", "start": 3993 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "XM_006716855.2:c.3586G>C" ], "proteinEffect": { "hgvs": "XP_006716918.1:p.Val1196Leu", "hgvsWellDefined": "XP_006716918.1:p.Val1196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS071877" }, { "coordinates": [ { "allele": "C", "end": 4150, "referenceAllele": "G", "start": 4149 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "XM_011518012.1:c.3742G>C" ], "proteinEffect": { "hgvs": "XP_011516314.1:p.Val1248Leu", "hgvsWellDefined": "XP_011516314.1:p.Val1248Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS085194" }, { "coordinates": [ { "allele": "C", "end": 4147, "referenceAllele": "G", "start": 4146 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "XM_011518013.1:c.3739G>C" ], "proteinEffect": { "hgvs": "XP_011516315.1:p.Val1247Leu", "hgvsWellDefined": "XP_011516315.1:p.Val1247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS085195" }, { "coordinates": [ { "allele": "C", "end": 4120, "referenceAllele": "G", "start": 4119 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "XM_011518014.1:c.3712G>C" ], "proteinEffect": { "hgvs": "XP_011516316.1:p.Val1238Leu", "hgvsWellDefined": "XP_011516316.1:p.Val1238Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS085196" }, { "coordinates": [ { "allele": "C", "end": 3871, "referenceAllele": "G", "start": 3870 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "XM_011518015.1:c.3463G>C" ], "proteinEffect": { "hgvs": "XP_011516317.1:p.Val1155Leu", "hgvsWellDefined": "XP_011516317.1:p.Val1155Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS085197" }, { "coordinates": [ { "allele": "C", "end": 3868, "referenceAllele": "G", "start": 3867 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "XM_011518016.1:c.3460G>C" ], "proteinEffect": { "hgvs": "XP_011516318.1:p.Val1154Leu", "hgvsWellDefined": "XP_011516318.1:p.Val1154Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS085198" }, { "coordinates": [ { "allele": "C", "end": 3751, "referenceAllele": "G", "start": 3750 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "XM_011518017.1:c.3343G>C" ], "proteinEffect": { "hgvs": "XP_011516319.1:p.Val1115Leu", "hgvsWellDefined": "XP_011516319.1:p.Val1115Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS085199" }, { "coordinates": [ { "allele": "C", "end": 3748, "referenceAllele": "G", "start": 3747 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "XM_011518018.1:c.3340G>C" ], "proteinEffect": { "hgvs": "XP_011516320.1:p.Val1114Leu", "hgvsWellDefined": "XP_011516320.1:p.Val1114Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS085200" }, { "coordinates": [ { "allele": "C", "end": 3547, "referenceAllele": "G", "start": 3546 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "XM_011518020.1:c.3139G>C" ], "proteinEffect": { "hgvs": "XP_011516322.1:p.Val1047Leu", "hgvsWellDefined": "XP_011516322.1:p.Val1047Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS085202" }, { "coordinates": [ { "allele": "C", "end": 3084, "referenceAllele": "G", "start": 3083 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "XM_011518022.1:c.2935G>C" ], "proteinEffect": { "hgvs": "XP_011516324.1:p.Val979Leu", "hgvsWellDefined": "XP_011516324.1:p.Val979Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS085204" }, { "coordinates": [ { "allele": "C", "end": 3847, "referenceAllele": "G", "start": 3846 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "XM_011518024.1:c.2677G>C" ], "proteinEffect": { "hgvs": "XP_011516326.1:p.Val893Leu", "hgvsWellDefined": "XP_011516326.1:p.Val893Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS085206" }, { "@id": "http://reg.genome.network/allele/PA2580171326", "coordinates": [ { "allele": "C", "end": 3921, "referenceAllele": "G", "start": 3920 } ], "gene": "http://reg.genome.network/gene/GN032035", "geneNCBI_id": 728577, "geneSymbol": "CNTNAP3B", "hgvs": [ "NM_001201380.3:c.3589G>C" ], "proteinEffect": { "hgvs": "NP_001188309.2:p.Val1197Leu", "hgvsWellDefined": "NP_001188309.2:p.Val1197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679673", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000377561.7:c.3589G>C" }, "RefSeq": { "hgvs": "NM_001201380.3:c.3589G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000478671.2:p.Val1197Leu" }, "RefSeq": { "hgvs": "NP_001188309.2:p.Val1197Leu" } } } } ], "type": "nucleotide" }