{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA458542088", "communityStandardTitle": [ "NM_000083.3(CLCN1):c.591A>T (p.Ile197=)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.143018836A>T?assembly=hg19", "id": "chr7:g.143018836A>T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 143321743, "referenceAllele": "A", "start": 143321742 } ], "hgvs": [ "NC_000007.14:g.143321743A>T", "CM000669.2:g.143321743A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 143018836, "referenceAllele": "A", "start": 143018835 } ], "hgvs": [ "NC_000007.13:g.143018836A>T", "CM000669.1:g.143018836A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 142728958, "referenceAllele": "A", "start": 142728957 } ], "hgvs": [ "NC_000007.12:g.142728958A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 10618, "referenceAllele": "A", "start": 10617 } ], "hgvs": [ "NG_009815.1:g.10618A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001652" }, { "coordinates": [ { "allele": "T", "end": 10618, "referenceAllele": "A", "start": 10617 } ], "hgvs": [ "NG_009815.2:g.10618A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706098" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 678, "referenceAllele": "A", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "ENST00000650516.2:c.591A>T" ], "proteinEffect": { "hgvs": "ENSP00000498052.2:p.Ile197=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826806" }, { "coordinates": [ { "allele": "T", "end": 693, "referenceAllele": "A", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "ENST00000343257.7:c.591A>T" ], "proteinEffect": { "hgvs": "ENSP00000339867.2:p.Ile197=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748129", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000343257.7:c.591A>T" }, "RefSeq": { "hgvs": "NM_000083.3:c.591A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000339867.2:p.Ile197=" }, "RefSeq": { "hgvs": "NP_000074.3:p.Ile197=" } } } }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "A", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "ENST00000432192.6:c.359A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS755399" }, { "coordinates": [ { "allele": "T", "end": 45, "referenceAllele": "A", "start": 44 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "ENST00000455478.6:c.45A>T" ], "proteinEffect": { "hgvs": "ENSP00000400027.2:p.Ile15=" }, "referenceSequence": "http://reg.genome.network/refseq/RS756514" }, { "coordinates": [ { "allele": "T", "end": 678, "referenceAllele": "A", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "ENST00000650516.1:c.591A>T" ], "proteinEffect": { "hgvs": "ENSP00000498052.1:p.Ile197=" }, "referenceSequence": "http://reg.genome.network/refseq/RS771159" }, { "coordinates": [ { "allele": "T", "end": 678, "referenceAllele": "A", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "ENST00000343257.6:c.591A>T" ], "proteinEffect": { "hgvs": "ENSP00000339867.2:p.Ile197=" }, "referenceSequence": "http://reg.genome.network/refseq/RS261727" }, { "coordinates": [ { "allele": "T", "end": 49, "referenceAllele": "A", "start": 48 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "ENST00000432192.5:c.49A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS291981" }, { "coordinates": [ { "allele": "T", "end": 49, "referenceAllele": "A", "start": 48 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "ENST00000455478.5:c.49A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS303066" }, { "coordinates": [ { "allele": "T", "end": 49, "referenceAllele": "A", "start": 48 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "ENST00000495612.1:n.49A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332280" }, { "coordinates": [ { "allele": "T", "end": 678, "referenceAllele": "A", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "NM_000083.2:c.591A>T" ], "proteinEffect": { "hgvs": "NP_000074.2:p.Ile197=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006147" }, { "coordinates": [ { "allele": "T", "end": 678, "referenceAllele": "A", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "NR_046453.1:n.678A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS051706" }, { "coordinates": [ { "allele": "T", "end": 632, "referenceAllele": "A", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "XM_011515781.1:c.591A>T" ], "proteinEffect": { "hgvs": "XP_011514083.1:p.Ile197=" }, "referenceSequence": "http://reg.genome.network/refseq/RS082992" }, { "coordinates": [ { "allele": "T", "end": 536, "referenceAllele": "A", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "XM_017011739.1:c.298A>T" ], "proteinEffect": { "hgvs": "XP_016867228.1:p.Thr100Ser", "hgvsWellDefined": "XP_016867228.1:p.Thr100Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS565512" }, { "coordinates": [ { "allele": "T", "end": 536, "referenceAllele": "A", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "XM_017011740.1:c.298A>T" ], "proteinEffect": { "hgvs": "XP_016867229.1:p.Thr100Ser", "hgvsWellDefined": "XP_016867229.1:p.Thr100Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS565513" }, { "@id": "http://reg.genome.network/allele/PA3073933082", "coordinates": [ { "allele": "T", "end": 693, "referenceAllele": "A", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "NM_000083.3:c.591A>T" ], "proteinEffect": { "hgvs": "NP_000074.3:p.Ile197=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674691", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000343257.7:c.591A>T" }, "RefSeq": { "hgvs": "NM_000083.3:c.591A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000339867.2:p.Ile197=" }, "RefSeq": { "hgvs": "NP_000074.3:p.Ile197=" } } } }, { "coordinates": [ { "allele": "T", "end": 693, "referenceAllele": "A", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN002019", "geneNCBI_id": 1180, "geneSymbol": "CLCN1", "hgvs": [ "NR_046453.2:n.693A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702503" } ], "type": "nucleotide" }