{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388727152", "communityStandardTitle": [ "NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2415806[alleleid]", "alleleId": 2415806, "preferredName": "NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2442093", "RCV": [ "RCV003148416" ], "variationId": 2442093 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.110866338G>A?assembly=hg19", "id": "chr13:g.110866338G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.110213991G>A?assembly=hg38", "id": "chr13:g.110213991G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2501608003", "rs": 2501608003 } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 110213991, "referenceAllele": "G", "start": 110213990 } ], "hgvs": [ "NC_000013.11:g.110213991G>A", "CM000675.2:g.110213991G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 110866338, "referenceAllele": "G", "start": 110866337 } ], "hgvs": [ "NC_000013.10:g.110866338G>A", "CM000675.1:g.110866338G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 109664339, "referenceAllele": "G", "start": 109664338 } ], "hgvs": [ "NC_000013.9:g.109664339G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 98159, "referenceAllele": "C", "start": 98158 } ], "hgvs": [ "NG_011544.2:g.98159C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001806" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "ENST00000375820.10:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000364979.4:p.Gln57Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS751671", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375820.10:c.169C>T" }, "RefSeq": { "hgvs": "NM_001845.6:c.169C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364979.4:p.Gln57Ter" }, "RefSeq": { "hgvs": "NP_001836.3:p.Gln57Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 273, "referenceAllele": "C", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "ENST00000543140.6:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000443348.1:p.Gln57Ter", "hgvsWellDefined": "ENSP00000443348.1:p.Gln57_Lys519delinsGlyValIleGlyPheProGlyMetGlnGlyProGluGlyProGlnGlyProProGlyGlnLysGlyAspThrGlyGluProGlyLeuProGlyThrLysGlyThrArgGlyProProGlyAlaSerGlyTyrProGlyAsnProGlyLeuProGlyIleProGlyGlnAspGlyProProGlyProProGlyIleProGlyCysAsnGlyThrLysGlyGluArgGlyProLeuGlyProProGlyLeuProGlyPheAlaGlyAsnProGlyProProGlyLeuProGlyMetLysGlyAspProGlyGluIleLeuGlyHisValProGlyMetLeuLeuLysGlyGluArgGlyPheProGlyIleProGlyThrProGlyProProGlyLeuProGlyLeuGlnGlyProValGlyProProGlyPheThrGlyProProGlyProProGlyProProGlyProProGlyGluLysGlyGlnMetGlyLeuSerPheGlnGlyProLysGlyAspLysGlyAspGlnGlyValSerGlyProProGlyValProGlyGlnAlaGlnValGlnGluLysGlyAspPheAlaThrLysGlyGluLysGlyGlnLysGlyGluProGlyPheGlnGlyMetProGlyValGlyGluLysGlyGluProGlyLysProGlyProArgGlyLysProGlyLysAspGlyAspLysGlyGluLysGlySerProGlyPheProGlyGluProGlyTyrProGlyLeuIleGlyArgGlnGlyProGlnGlyGluLysGlyGluAlaGlyProProGlyProProGlyIleValIleGlyThrGlyProLeuGlyGluLysGlyGluArgGlyTyrProGlyThrProGlyProArgGlyGluProGlyProLysGlyPheProGlyLeuProGlyGlnProGlyProProGlyLeuProValProGlyGlnAlaGlyAlaProGlyPheProGlyGluArgGlyGluLysGlyAspArgGlyPheProGlyThrSerLeuProGlyProSerGlyArgAspGlyLeuProGlyProProGlySerProGlyProProGlyGlnProGlyTyrThrAsnGlyIleValGluCysGlnProGlyProProGlyAspGlnGlyProProGlyIleProGlyGlnProGlyPheIleGlyGluIleGlyGluLysGlyGlnLysGlyGluSerCysLeuIleCysAspIleAspGlyTyrArgGlyProProGlyProGlnGlyProProGlyGluIleGlyPheProGlyGlnProGlyAlaLysGlyAspArgGlyLeuProGlyArgAspGlyValAlaGlyValProLeuLeuPheGlnIleHisLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759719" }, { "coordinates": [ { "allele": "T", "end": 380, "referenceAllele": "C", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "ENST00000615732.2:c.-24C>T" ], "proteinEffect": { "hgvs": "ENSP00000478222.2:n.-24C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS762026" }, { "coordinates": [ { "allele": "T", "end": 48, "referenceAllele": "C", "start": 47 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "ENST00000647797.1:c.48C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769617" }, { "coordinates": [ { "allele": "T", "end": 48, "referenceAllele": "C", "start": 47 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "ENST00000648170.1:n.48C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769828" }, { "coordinates": [ { "allele": "T", "end": 48, "referenceAllele": "C", "start": 47 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "ENST00000648966.1:c.48C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS770283" }, { "coordinates": [ { "allele": "T", "end": 48, "referenceAllele": "C", "start": 47 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "ENST00000649484.1:c.48C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS770567" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "ENST00000649738.1:n.299C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS770713" }, { "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "ENST00000375820.8:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000364979.4:p.Gln57Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS270886" }, { "coordinates": [ { "allele": "T", "end": 273, "referenceAllele": "C", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "ENST00000543140.5:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000443348.1:p.Gln57Ter", "hgvsWellDefined": "ENSP00000443348.1:p.Gln57_Lys519delinsGlyValIleGlyPheProGlyMetGlnGlyProGluGlyProGlnGlyProProGlyGlnLysGlyAspThrGlyGluProGlyLeuProGlyThrLysGlyThrArgGlyProProGlyAlaSerGlyTyrProGlyAsnProGlyLeuProGlyIleProGlyGlnAspGlyProProGlyProProGlyIleProGlyCysAsnGlyThrLysGlyGluArgGlyProLeuGlyProProGlyLeuProGlyPheAlaGlyAsnProGlyProProGlyLeuProGlyMetLysGlyAspProGlyGluIleLeuGlyHisValProGlyMetLeuLeuLysGlyGluArgGlyPheProGlyIleProGlyThrProGlyProProGlyLeuProGlyLeuGlnGlyProValGlyProProGlyPheThrGlyProProGlyProProGlyProProGlyProProGlyGluLysGlyGlnMetGlyLeuSerPheGlnGlyProLysGlyAspLysGlyAspGlnGlyValSerGlyProProGlyValProGlyGlnAlaGlnValGlnGluLysGlyAspPheAlaThrLysGlyGluLysGlyGlnLysGlyGluProGlyPheGlnGlyMetProGlyValGlyGluLysGlyGluProGlyLysProGlyProArgGlyLysProGlyLysAspGlyAspLysGlyGluLysGlySerProGlyPheProGlyGluProGlyTyrProGlyLeuIleGlyArgGlnGlyProGlnGlyGluLysGlyGluAlaGlyProProGlyProProGlyIleValIleGlyThrGlyProLeuGlyGluLysGlyGluArgGlyTyrProGlyThrProGlyProArgGlyGluProGlyProLysGlyPheProGlyLeuProGlyGlnProGlyProProGlyLeuProValProGlyGlnAlaGlyAlaProGlyPheProGlyGluArgGlyGluLysGlyAspArgGlyPheProGlyThrSerLeuProGlyProSerGlyArgAspGlyLeuProGlyProProGlySerProGlyProProGlyGlnProGlyTyrThrAsnGlyIleValGluCysGlnProGlyProProGlyAspGlnGlyProProGlyIleProGlyGlnProGlyPheIleGlyGluIleGlyGluLysGlyGlnLysGlyGluSerCysLeuIleCysAspIleAspGlyTyrArgGlyProProGlyProGlnGlyProProGlyGluIleGlyPheProGlyGlnProGlyAlaLysGlyAspArgGlyLeuProGlyArgAspGlyValAlaGlyValProLeuLeuPheGlnIleHisLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363846" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "ENST00000615732.1:c.-24C>T" ], "proteinEffect": { "hgvs": "ENSP00000478222.1:n.-24C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS402742" }, { "@id": "http://reg.genome.network/allele/PA2826877687", "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "NM_001303110.1:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001290039.1:p.Gln57Ter", "hgvsWellDefined": "NP_001290039.1:p.Gln57_Lys519delinsGlyValIleGlyPheProGlyMetGlnGlyProGluGlyProGlnGlyProProGlyGlnLysGlyAspThrGlyGluProGlyLeuProGlyThrLysGlyThrArgGlyProProGlyAlaSerGlyTyrProGlyAsnProGlyLeuProGlyIleProGlyGlnAspGlyProProGlyProProGlyIleProGlyCysAsnGlyThrLysGlyGluArgGlyProLeuGlyProProGlyLeuProGlyPheAlaGlyAsnProGlyProProGlyLeuProGlyMetLysGlyAspProGlyGluIleLeuGlyHisValProGlyMetLeuLeuLysGlyGluArgGlyPheProGlyIleProGlyThrProGlyProProGlyLeuProGlyLeuGlnGlyProValGlyProProGlyPheThrGlyProProGlyProProGlyProProGlyProProGlyGluLysGlyGlnMetGlyLeuSerPheGlnGlyProLysGlyAspLysGlyAspGlnGlyValSerGlyProProGlyValProGlyGlnAlaGlnValGlnGluLysGlyAspPheAlaThrLysGlyGluLysGlyGlnLysGlyGluProGlyPheGlnGlyMetProGlyValGlyGluLysGlyGluProGlyLysProGlyProArgGlyLysProGlyLysAspGlyAspLysGlyGluLysGlySerProGlyPheProGlyGluProGlyTyrProGlyLeuIleGlyArgGlnGlyProGlnGlyGluLysGlyGluAlaGlyProProGlyProProGlyIleValIleGlyThrGlyProLeuGlyGluLysGlyGluArgGlyTyrProGlyThrProGlyProArgGlyGluProGlyProLysGlyPheProGlyLeuProGlyGlnProGlyProProGlyLeuProValProGlyGlnAlaGlyAlaProGlyPheProGlyGluArgGlyGluLysGlyAspArgGlyPheProGlyThrSerLeuProGlyProSerGlyArgAspGlyLeuProGlyProProGlySerProGlyProProGlyGlnProGlyTyrThrAsnGlyIleValGluCysGlnProGlyProProGlyAspGlnGlyProProGlyIleProGlyGlnProGlyPheIleGlyGluIleGlyGluLysGlyGlnLysGlyGluSerCysLeuIleCysAspIleAspGlyTyrArgGlyProProGlyProGlnGlyProProGlyGluIleGlyPheProGlyGlnProGlyAlaLysGlyAspArgGlyLeuProGlyArgAspGlyValAlaGlyValProLeuLeuPheGlnIleHisLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025427" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "NM_001845.5:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001836.3:p.Gln57Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS027173" }, { "coordinates": [ { "allele": "T", "end": 8231, "referenceAllele": "C", "start": 8230 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "XM_011521048.1:c.-24C>T" ], "proteinEffect": { "hgvs": "XP_011519350.1:n.-24C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088212" }, { "coordinates": [ { "allele": "T", "end": 8231, "referenceAllele": "C", "start": 8230 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "XM_011521048.2:c.-24C>T" ], "proteinEffect": { "hgvs": "XP_011519350.1:n.-24C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS545967" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "NM_001845.6:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001836.3:p.Gln57Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS665207", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375820.10:c.169C>T" }, "RefSeq": { "hgvs": "NM_001845.6:c.169C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364979.4:p.Gln57Ter" }, "RefSeq": { "hgvs": "NP_001836.3:p.Gln57Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826877687", "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN002202", "geneNCBI_id": 1282, "geneSymbol": "COL4A1", "hgvs": [ "NM_001303110.2:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001290039.1:p.Gln57Ter", "hgvsWellDefined": "NP_001290039.1:p.Gln57_Lys519delinsGlyValIleGlyPheProGlyMetGlnGlyProGluGlyProGlnGlyProProGlyGlnLysGlyAspThrGlyGluProGlyLeuProGlyThrLysGlyThrArgGlyProProGlyAlaSerGlyTyrProGlyAsnProGlyLeuProGlyIleProGlyGlnAspGlyProProGlyProProGlyIleProGlyCysAsnGlyThrLysGlyGluArgGlyProLeuGlyProProGlyLeuProGlyPheAlaGlyAsnProGlyProProGlyLeuProGlyMetLysGlyAspProGlyGluIleLeuGlyHisValProGlyMetLeuLeuLysGlyGluArgGlyPheProGlyIleProGlyThrProGlyProProGlyLeuProGlyLeuGlnGlyProValGlyProProGlyPheThrGlyProProGlyProProGlyProProGlyProProGlyGluLysGlyGlnMetGlyLeuSerPheGlnGlyProLysGlyAspLysGlyAspGlnGlyValSerGlyProProGlyValProGlyGlnAlaGlnValGlnGluLysGlyAspPheAlaThrLysGlyGluLysGlyGlnLysGlyGluProGlyPheGlnGlyMetProGlyValGlyGluLysGlyGluProGlyLysProGlyProArgGlyLysProGlyLysAspGlyAspLysGlyGluLysGlySerProGlyPheProGlyGluProGlyTyrProGlyLeuIleGlyArgGlnGlyProGlnGlyGluLysGlyGluAlaGlyProProGlyProProGlyIleValIleGlyThrGlyProLeuGlyGluLysGlyGluArgGlyTyrProGlyThrProGlyProArgGlyGluProGlyProLysGlyPheProGlyLeuProGlyGlnProGlyProProGlyLeuProValProGlyGlnAlaGlyAlaProGlyPheProGlyGluArgGlyGluLysGlyAspArgGlyPheProGlyThrSerLeuProGlyProSerGlyArgAspGlyLeuProGlyProProGlySerProGlyProProGlyGlnProGlyTyrThrAsnGlyIleValGluCysGlnProGlyProProGlyAspGlnGlyProProGlyIleProGlyGlnProGlyPheIleGlyGluIleGlyGluLysGlyGlnLysGlyGluSerCysLeuIleCysAspIleAspGlyTyrArgGlyProProGlyProGlnGlyProProGlyGluIleGlyPheProGlyGlnProGlyAlaLysGlyAspArgGlyLeuProGlyArgAspGlyValAlaGlyValProLeuLeuPheGlnIleHisLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683530" } ], "type": "nucleotide" }