{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413850025", "communityStandardTitle": [ "NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=798795[alleleid]", "alleleId": 798795, "preferredName": "NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/807581", "RCV": [ "RCV000995742" ], "variationId": 807581 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.107858210G>T?assembly=hg19", "id": "chrX:g.107858210G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.108614980G>T?assembly=hg38", "id": "chrX:g.108614980G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1291655627", "rs": 1291655627 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 108614980, "referenceAllele": "G", "start": 108614979 } ], "hgvs": [ "NC_000023.11:g.108614980G>T", "CM000685.2:g.108614980G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 107858210, "referenceAllele": "G", "start": 107858209 } ], "hgvs": [ "NC_000023.10:g.107858210G>T", "CM000685.1:g.107858210G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 107744866, "referenceAllele": "G", "start": 107744865 } ], "hgvs": [ "NC_000023.9:g.107744866G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 180057, "referenceAllele": "G", "start": 180056 } ], "hgvs": [ "NG_011977.1:g.180057G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002082" }, { "coordinates": [ { "allele": "T", "end": 180057, "referenceAllele": "G", "start": 180056 } ], "hgvs": [ "NG_011977.2:g.180057G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673573" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2753, "referenceAllele": "G", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.11:c.2465G>T" ], "proteinEffect": { "hgvs": "ENSP00000331902.7:p.Gly822Val", "hgvsWellDefined": "ENSP00000331902.7:p.Gly822Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS746901", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.2465G>T" }, "RefSeq": { "hgvs": "NM_033380.3:c.2465G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gly822Val" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gly822Val" } } } }, { "coordinates": [ { "allele": "T", "end": 2667, "referenceAllele": "G", "start": 2666 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.7:c.2465G>T" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Gly822Val", "hgvsWellDefined": "ENSP00000354505.2:p.Gly822Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS749508" }, { "coordinates": [ { "allele": "T", "end": 2709, "referenceAllele": "G", "start": 2708 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.10:c.2465G>T" ], "proteinEffect": { "hgvs": "ENSP00000331902.6:p.Gly822Val", "hgvsWellDefined": "ENSP00000331902.6:p.Gly822Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS258897" }, { "coordinates": [ { "allele": "T", "end": 2709, "referenceAllele": "G", "start": 2708 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.6:c.2465G>T" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Gly822Val", "hgvsWellDefined": "ENSP00000354505.2:p.Gly822Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS265564" }, { "coordinates": [ { "allele": "T", "end": 1921, "referenceAllele": "G", "start": 1920 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000483338.1:n.1921G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322830" }, { "@id": "http://reg.genome.network/allele/PA2825198956", "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "G", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.4:c.2465G>T" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gly822Val", "hgvsWellDefined": "NP_000486.1:p.Gly822Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006549" }, { "@id": "http://reg.genome.network/allele/PA916077739", "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "G", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.2:c.2465G>T" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gly822Val", "hgvsWellDefined": "NP_203699.1:p.Gly822Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS039706" }, { "coordinates": [ { "allele": "T", "end": 2782, "referenceAllele": "G", "start": 2781 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262070.2:c.2465G>T" ], "proteinEffect": { "hgvs": "XP_005262127.1:p.Gly822Val", "hgvsWellDefined": "XP_005262127.1:p.Gly822Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS063311" }, { "coordinates": [ { "allele": "T", "end": 2782, "referenceAllele": "G", "start": 2781 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262072.3:c.2465G>T" ], "proteinEffect": { "hgvs": "XP_005262129.1:p.Gly822Val", "hgvsWellDefined": "XP_005262129.1:p.Gly822Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS063312" }, { "coordinates": [ { "allele": "T", "end": 2645, "referenceAllele": "G", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_006724616.2:c.2465G>T" ], "proteinEffect": { "hgvs": "XP_006724679.1:p.Gly822Val", "hgvsWellDefined": "XP_006724679.1:p.Gly822Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS075622" }, { "coordinates": [ { "allele": "T", "end": 2403, "referenceAllele": "G", "start": 2402 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.1:c.2141G>T" ], "proteinEffect": { "hgvs": "XP_011529151.1:p.Gly714Val", "hgvsWellDefined": "XP_011529151.1:p.Gly714Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097892" }, { "coordinates": [ { "allele": "T", "end": 2782, "referenceAllele": "G", "start": 2781 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530850.1:c.2465G>T" ], "proteinEffect": { "hgvs": "XP_011529152.1:p.Gly822Val", "hgvsWellDefined": "XP_011529152.1:p.Gly822Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097893" }, { "coordinates": [ { "allele": "T", "end": 150, "referenceAllele": "G", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530851.1:c.38G>T" ], "proteinEffect": { "hgvs": "XP_011529153.1:p.Gly13Val", "hgvsWellDefined": "XP_011529153.1:p.Gly13Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097894" }, { "coordinates": [ { "allele": "T", "end": 2495, "referenceAllele": "G", "start": 2494 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.2:c.2480G>T" ], "proteinEffect": { "hgvs": "XP_011529151.2:p.Gly827Val", "hgvsWellDefined": "XP_011529151.2:p.Gly827Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS550135" }, { "coordinates": [ { "allele": "T", "end": 2495, "referenceAllele": "G", "start": 2494 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029259.2:c.2480G>T" ], "proteinEffect": { "hgvs": "XP_016884748.1:p.Gly827Val", "hgvsWellDefined": "XP_016884748.1:p.Gly827Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578835" }, { "coordinates": [ { "allele": "T", "end": 2495, "referenceAllele": "G", "start": 2494 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029260.1:c.2480G>T" ], "proteinEffect": { "hgvs": "XP_016884749.1:p.Gly827Val", "hgvsWellDefined": "XP_016884749.1:p.Gly827Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578836" }, { "coordinates": [ { "allele": "T", "end": 2495, "referenceAllele": "G", "start": 2494 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029261.1:c.2480G>T" ], "proteinEffect": { "hgvs": "XP_016884750.1:p.Gly827Val", "hgvsWellDefined": "XP_016884750.1:p.Gly827Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578837" }, { "coordinates": [ { "allele": "T", "end": 2495, "referenceAllele": "G", "start": 2494 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029262.2:c.2480G>T" ], "proteinEffect": { "hgvs": "XP_016884751.1:p.Gly827Val", "hgvsWellDefined": "XP_016884751.1:p.Gly827Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578838" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "G", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029263.2:c.800G>T" ], "proteinEffect": { "hgvs": "XP_016884752.1:p.Gly267Val", "hgvsWellDefined": "XP_016884752.1:p.Gly267Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578839" }, { "@id": "http://reg.genome.network/allele/PA2825198956", "coordinates": [ { "allele": "T", "end": 2753, "referenceAllele": "G", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.5:c.2465G>T" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gly822Val", "hgvsWellDefined": "NP_000486.1:p.Gly822Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS674868" }, { "@id": "http://reg.genome.network/allele/PA916077739", "coordinates": [ { "allele": "T", "end": 2753, "referenceAllele": "G", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.3:c.2465G>T" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gly822Val", "hgvsWellDefined": "NP_203699.1:p.Gly822Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS699344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.2465G>T" }, "RefSeq": { "hgvs": "NM_033380.3:c.2465G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gly822Val" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gly822Val" } } } } ], "type": "nucleotide" }