{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2269949846", "communityStandardTitle": [ "NM_000789.4(ACE):c.3683C= (p.Pro1228=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121912703", "rs": 121912703 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 63496977, "referenceAllele": "C", "start": 63496976 } ], "hgvs": [ "NC_000017.11:g.63496977C=", "CM000679.2:g.63496977C=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 61574338, "referenceAllele": "C", "start": 61574337 } ], "hgvs": [ "NC_000017.10:g.61574338C=", "CM000679.1:g.61574338C=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 58928070, "referenceAllele": "C", "start": 58928069 } ], "hgvs": [ "NC_000017.9:g.58928070C=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "C", "end": 24905, "referenceAllele": "C", "start": 24904 } ], "hgvs": [ "NG_011648.1:g.24905C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001881" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 3717, "referenceAllele": "C", "start": 3716 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "ENST00000290866.10:c.3683C=" ], "proteinEffect": { "hgvs": "ENSP00000290866.4:p.Pro1228=" }, "referenceSequence": "http://reg.genome.network/refseq/RS744043", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000290866.10:c.3683C=" }, "RefSeq": { "hgvs": "NM_000789.4:c.3683C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000290866.4:p.Pro1228=" }, "RefSeq": { "hgvs": "NP_000780.1:p.Pro1228=" } } } }, { "coordinates": [ { "allele": "C", "end": 1989, "referenceAllele": "C", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "ENST00000290863.10:c.1961C=" ], "proteinEffect": { "hgvs": "ENSP00000290863.6:p.Pro654=" }, "referenceSequence": "http://reg.genome.network/refseq/RS253688" }, { "coordinates": [ { "allele": "C", "end": 3707, "referenceAllele": "C", "start": 3706 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "ENST00000290866.9:c.3683C=" ], "proteinEffect": { "hgvs": "ENSP00000290866.4:p.Pro1228=" }, "referenceSequence": "http://reg.genome.network/refseq/RS253689" }, { "coordinates": [ { "allele": "C", "end": 1860, "referenceAllele": "C", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "ENST00000413513.7:c.1838C=" ], "proteinEffect": { "hgvs": "ENSP00000392247.3:p.Pro613=" }, "referenceSequence": "http://reg.genome.network/refseq/RS283104" }, { "coordinates": [ { "allele": "C", "end": 3717, "referenceAllele": "C", "start": 3716 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "ENST00000428043.5:c.3683C=" ], "proteinEffect": { "hgvs": "ENSP00000397593.2:p.Pro1228=" }, "referenceSequence": "http://reg.genome.network/refseq/RS290004" }, { "coordinates": [ { "allele": "C", "end": 693, "referenceAllele": "C", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "ENST00000577418.5:n.693C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS384850" }, { "coordinates": [ { "allele": "C", "end": 2006, "referenceAllele": "C", "start": 2005 } ], "hgvs": [ "ENST00000577647.2:c.1961C=" ], "proteinEffect": { "hgvs": "ENSP00000464149.1:p.Pro654=" }, "referenceSequence": "http://reg.genome.network/refseq/RS384974" }, { "coordinates": [ { "allele": "C", "end": 1571, "referenceAllele": "C", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "ENST00000578839.5:c.*1438C=" ], "proteinEffect": { "hgvs": "ENSP00000462110.2:n.*1438C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS385555" }, { "coordinates": [ { "allele": "C", "end": 2061, "referenceAllele": "C", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "ENST00000579314.5:c.*1412C=" ], "proteinEffect": { "hgvs": "ENSP00000462599.1:n.*1412C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS385788" }, { "coordinates": [ { "allele": "C", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "ENST00000579409.1:c.370C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS385836" }, { "coordinates": [ { "allele": "C", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "ENST00000582244.1:n.557C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS387174" }, { "@id": "http://reg.genome.network/allele/PA2825217092", "coordinates": [ { "allele": "C", "end": 3717, "referenceAllele": "C", "start": 3716 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "NM_000789.3:c.3683C=" ], "proteinEffect": { "hgvs": "NP_000780.1:p.Pro1228=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006818" }, { "@id": "http://reg.genome.network/allele/PA2826135551", "coordinates": [ { "allele": "C", "end": 1889, "referenceAllele": "C", "start": 1888 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "NM_001178057.1:c.1838C=" ], "proteinEffect": { "hgvs": "NP_001171528.1:p.Pro613=" }, "referenceSequence": "http://reg.genome.network/refseq/RS015832" }, { "@id": "http://reg.genome.network/allele/PA2830296625", "coordinates": [ { "allele": "C", "end": 2012, "referenceAllele": "C", "start": 2011 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "NM_152830.2:c.1961C=" ], "proteinEffect": { "hgvs": "NP_690043.1:p.Pro654=" }, "referenceSequence": "http://reg.genome.network/refseq/RS042162" }, { "coordinates": [ { "allele": "C", "end": 3623, "referenceAllele": "C", "start": 3622 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "XM_005257110.1:c.3134C=" ], "proteinEffect": { "hgvs": "XP_005257167.1:p.Pro1045=" }, "referenceSequence": "http://reg.genome.network/refseq/RS061580" }, { "coordinates": [ { "allele": "C", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "XM_006721737.2:c.2021C=" ], "proteinEffect": { "hgvs": "XP_006721800.2:p.Pro674=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074225" }, { "coordinates": [ { "allele": "C", "end": 2125, "referenceAllele": "C", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "XM_006721737.3:c.2021C=" ], "proteinEffect": { "hgvs": "XP_006721800.2:p.Pro674=" }, "referenceSequence": "http://reg.genome.network/refseq/RS540365" }, { "@id": "http://reg.genome.network/allele/PA2825217092", "coordinates": [ { "allele": "C", "end": 3717, "referenceAllele": "C", "start": 3716 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "NM_000789.4:c.3683C=" ], "proteinEffect": { "hgvs": "NP_000780.1:p.Pro1228=" }, "referenceSequence": "http://reg.genome.network/refseq/RS662582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000290866.10:c.3683C=" }, "RefSeq": { "hgvs": "NM_000789.4:c.3683C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000290866.4:p.Pro1228=" }, "RefSeq": { "hgvs": "NP_000780.1:p.Pro1228=" } } } }, { "@id": "http://reg.genome.network/allele/PA2826135551", "coordinates": [ { "allele": "C", "end": 1860, "referenceAllele": "C", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "NM_001178057.2:c.1838C=" ], "proteinEffect": { "hgvs": "NP_001171528.1:p.Pro613=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678926" }, { "@id": "http://reg.genome.network/allele/PA2830296625", "coordinates": [ { "allele": "C", "end": 1983, "referenceAllele": "C", "start": 1982 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "NM_152830.3:c.1961C=" ], "proteinEffect": { "hgvs": "NP_690043.1:p.Pro654=" }, "referenceSequence": "http://reg.genome.network/refseq/RS700269" }, { "@id": "http://reg.genome.network/allele/PA2828914510", "coordinates": [ { "allele": "C", "end": 3385, "referenceAllele": "C", "start": 3384 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "NM_001382700.1:c.3116C=" ], "proteinEffect": { "hgvs": "NP_001369629.1:p.Pro1039=" }, "referenceSequence": "http://reg.genome.network/refseq/RS722543" }, { "@id": "http://reg.genome.network/allele/PA2828914674", "coordinates": [ { "allele": "C", "end": 3479, "referenceAllele": "C", "start": 3478 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "NM_001382701.1:c.2831C=" ], "proteinEffect": { "hgvs": "NP_001369630.1:p.Pro944=" }, "referenceSequence": "http://reg.genome.network/refseq/RS722544" }, { "@id": "http://reg.genome.network/allele/PA2828914755", "coordinates": [ { "allele": "C", "end": 1571, "referenceAllele": "C", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "NM_001382702.1:c.1298C=" ], "proteinEffect": { "hgvs": "NP_001369631.1:p.Pro433=" }, "referenceSequence": "http://reg.genome.network/refseq/RS722545" }, { "coordinates": [ { "allele": "C", "end": 2061, "referenceAllele": "C", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN002707", "geneNCBI_id": 1636, "geneSymbol": "ACE", "hgvs": [ "NR_168483.1:n.2061C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS732030" } ], "type": "nucleotide" }