{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413851575", "communityStandardTitle": [ "NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1194865", "active": true, "id": "COSM1194865" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=959153[alleleid]", "alleleId": 959153, "preferredName": "NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/968858", "RCV": [ "RCV001244092", "RCV001328075", "RCV002491816" ], "variationId": 968858 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.107863612G>A?assembly=hg19", "id": "chrX:g.107863612G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.108620382G>A?assembly=hg38", "id": "chrX:g.108620382G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104886199", "rs": 104886199 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 108620382, "referenceAllele": "G", "start": 108620381 } ], "hgvs": [ "NC_000023.11:g.108620382G>A", "CM000685.2:g.108620382G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 107863612, "referenceAllele": "G", "start": 107863611 } ], "hgvs": [ "NC_000023.10:g.107863612G>A", "CM000685.1:g.107863612G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 107750268, "referenceAllele": "G", "start": 107750267 } ], "hgvs": [ "NC_000023.9:g.107750268G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 185459, "referenceAllele": "G", "start": 185458 } ], "hgvs": [ "NG_011977.1:g.185459G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002082" }, { "coordinates": [ { "allele": "A", "end": 185459, "referenceAllele": "G", "start": 185458 } ], "hgvs": [ "NG_011977.2:g.185459G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673573" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2921, "referenceAllele": "G", "start": 2920 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.11:c.2633G>A" ], "proteinEffect": { "hgvs": "ENSP00000331902.7:p.Gly878Glu", "hgvsWellDefined": "ENSP00000331902.7:p.Gly878Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS746901", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.2633G>A" }, "RefSeq": { "hgvs": "NM_033380.3:c.2633G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gly878Glu" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gly878Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 2835, "referenceAllele": "G", "start": 2834 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.7:c.2633G>A" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Gly878Glu", "hgvsWellDefined": "ENSP00000354505.2:p.Gly878Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS749508" }, { "coordinates": [ { "allele": "A", "end": 2877, "referenceAllele": "G", "start": 2876 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.10:c.2633G>A" ], "proteinEffect": { "hgvs": "ENSP00000331902.6:p.Gly878Glu", "hgvsWellDefined": "ENSP00000331902.6:p.Gly878Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS258897" }, { "coordinates": [ { "allele": "A", "end": 2877, "referenceAllele": "G", "start": 2876 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.6:c.2633G>A" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Gly878Glu", "hgvsWellDefined": "ENSP00000354505.2:p.Gly878Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS265564" }, { "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "G", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000483338.1:n.2089G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS322830" }, { "@id": "http://reg.genome.network/allele/PA2825199125", "coordinates": [ { "allele": "A", "end": 2915, "referenceAllele": "G", "start": 2914 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.4:c.2633G>A" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gly878Glu", "hgvsWellDefined": "NP_000486.1:p.Gly878Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006549" }, { "@id": "http://reg.genome.network/allele/PA1139746596", "coordinates": [ { "allele": "A", "end": 2915, "referenceAllele": "G", "start": 2914 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.2:c.2633G>A" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gly878Glu", "hgvsWellDefined": "NP_203699.1:p.Gly878Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS039706" }, { "coordinates": [ { "allele": "A", "end": 2950, "referenceAllele": "G", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262070.2:c.2633G>A" ], "proteinEffect": { "hgvs": "XP_005262127.1:p.Gly878Glu", "hgvsWellDefined": "XP_005262127.1:p.Gly878Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS063311" }, { "coordinates": [ { "allele": "A", "end": 2950, "referenceAllele": "G", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262072.3:c.2633G>A" ], "proteinEffect": { "hgvs": "XP_005262129.1:p.Gly878Glu", "hgvsWellDefined": "XP_005262129.1:p.Gly878Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS063312" }, { "coordinates": [ { "allele": "A", "end": 2813, "referenceAllele": "G", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_006724616.2:c.2633G>A" ], "proteinEffect": { "hgvs": "XP_006724679.1:p.Gly878Glu", "hgvsWellDefined": "XP_006724679.1:p.Gly878Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS075622" }, { "coordinates": [ { "allele": "A", "end": 2571, "referenceAllele": "G", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.1:c.2309G>A" ], "proteinEffect": { "hgvs": "XP_011529151.1:p.Gly770Glu", "hgvsWellDefined": "XP_011529151.1:p.Gly770Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097892" }, { "coordinates": [ { "allele": "A", "end": 2950, "referenceAllele": "G", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530850.1:c.2633G>A" ], "proteinEffect": { "hgvs": "XP_011529152.1:p.Gly878Glu", "hgvsWellDefined": "XP_011529152.1:p.Gly878Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097893" }, { "coordinates": [ { "allele": "A", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530851.1:c.206G>A" ], "proteinEffect": { "hgvs": "XP_011529153.1:p.Gly69Glu", "hgvsWellDefined": "XP_011529153.1:p.Gly69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097894" }, { "coordinates": [ { "allele": "A", "end": 2663, "referenceAllele": "G", "start": 2662 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.2:c.2648G>A" ], "proteinEffect": { "hgvs": "XP_011529151.2:p.Gly883Glu", "hgvsWellDefined": "XP_011529151.2:p.Gly883Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550135" }, { "coordinates": [ { "allele": "A", "end": 2663, "referenceAllele": "G", "start": 2662 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029259.2:c.2648G>A" ], "proteinEffect": { "hgvs": "XP_016884748.1:p.Gly883Glu", "hgvsWellDefined": "XP_016884748.1:p.Gly883Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578835" }, { "coordinates": [ { "allele": "A", "end": 2663, "referenceAllele": "G", "start": 2662 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029260.1:c.2648G>A" ], "proteinEffect": { "hgvs": "XP_016884749.1:p.Gly883Glu", "hgvsWellDefined": "XP_016884749.1:p.Gly883Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578836" }, { "coordinates": [ { "allele": "A", "end": 2663, "referenceAllele": "G", "start": 2662 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029261.1:c.2648G>A" ], "proteinEffect": { "hgvs": "XP_016884750.1:p.Gly883Glu", "hgvsWellDefined": "XP_016884750.1:p.Gly883Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578837" }, { "coordinates": [ { "allele": "A", "end": 2663, "referenceAllele": "G", "start": 2662 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029262.2:c.2648G>A" ], "proteinEffect": { "hgvs": "XP_016884751.1:p.Gly883Glu", "hgvsWellDefined": "XP_016884751.1:p.Gly883Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578838" }, { "coordinates": [ { "allele": "A", "end": 1747, "referenceAllele": "G", "start": 1746 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029263.2:c.968G>A" ], "proteinEffect": { "hgvs": "XP_016884752.1:p.Gly323Glu", "hgvsWellDefined": "XP_016884752.1:p.Gly323Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578839" }, { "@id": "http://reg.genome.network/allele/PA2825199125", "coordinates": [ { "allele": "A", "end": 2921, "referenceAllele": "G", "start": 2920 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.5:c.2633G>A" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gly878Glu", "hgvsWellDefined": "NP_000486.1:p.Gly878Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674868" }, { "@id": "http://reg.genome.network/allele/PA1139746596", "coordinates": [ { "allele": "A", "end": 2921, "referenceAllele": "G", "start": 2920 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.3:c.2633G>A" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gly878Glu", "hgvsWellDefined": "NP_203699.1:p.Gly878Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS699344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.2633G>A" }, "RefSeq": { "hgvs": "NM_033380.3:c.2633G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gly878Glu" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gly878Glu" } } } } ], "type": "nucleotide" }