{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA377482424", "communityStandardTitle": [ "NM_000314.8(PTEN):c.445C>A (p.Gln149Lys)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.89692961C>A?assembly=hg19", "id": "chr10:g.89692961C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.87933204C>A?assembly=hg38", "id": "chr10:g.87933204C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500122", "rs": 1060500122 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 87933204, "referenceAllele": "C", "start": 87933203 } ], "hgvs": [ "NC_000010.11:g.87933204C>A", "CM000672.2:g.87933204C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 89692961, "referenceAllele": "C", "start": 89692960 } ], "hgvs": [ "NC_000010.10:g.89692961C>A", "CM000672.1:g.89692961C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 89682941, "referenceAllele": "C", "start": 89682940 } ], "hgvs": [ "NC_000010.9:g.89682941C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 74766, "referenceAllele": "C", "start": 74765 } ], "hgvs": [ "NG_007466.2:g.74766C>A", "LRG_311:g.74766C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000591" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1290, "referenceAllele": "C", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000700029.2:c.445C>A" ], "proteinEffect": { "hgvs": "ENSP00000514759.2:p.Gln149Lys", "hgvsWellDefined": "ENSP00000514759.2:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914478" }, { "coordinates": [ { "allele": "A", "end": 1290, "referenceAllele": "C", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000710265.1:c.445C>A" ], "proteinEffect": { "hgvs": "ENSP00000518161.1:p.Gln149Lys", "hgvsWellDefined": "ENSP00000518161.1:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914503" }, { "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "C", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000472832.3:c.445C>A" ], "proteinEffect": { "hgvs": "ENSP00000483066.2:p.Gln149Lys", "hgvsWellDefined": "ENSP00000483066.2:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS905199" }, { "coordinates": [ { "allele": "A", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000688158.2:n.1180C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS906571" }, { "coordinates": [ { "allele": "A", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000688922.2:c.*275C>A" ], "proteinEffect": { "hgvs": "ENSP00000508742.2:n.*275C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS906576" }, { "coordinates": [ { "allele": "A", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000700021.1:c.400C>A" ], "proteinEffect": { "hgvs": "ENSP00000514757.1:p.Gln134Lys", "hgvsWellDefined": "ENSP00000514757.1:p.Gln134Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910887" }, { "coordinates": [ { "allele": "A", "end": 836, "referenceAllele": "C", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000700022.1:c.445C>A" ], "proteinEffect": { "hgvs": "ENSP00000514758.1:p.Gln149Lys", "hgvsWellDefined": "ENSP00000514758.1:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910888" }, { "coordinates": [ { "allele": "A", "end": 279, "referenceAllele": "C", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000700029.1:c.279C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910893" }, { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000706954.1:c.445C>A" ], "proteinEffect": { "hgvs": "ENSP00000516674.1:p.Gln149Lys", "hgvsWellDefined": "ENSP00000516674.1:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS913291" }, { "coordinates": [ { "allele": "A", "end": 1460, "referenceAllele": "C", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000706955.1:c.*480C>A" ], "proteinEffect": { "hgvs": "ENSP00000516675.1:n.*480C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS913292" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000686459.1:c.445C>A" ], "proteinEffect": { "hgvs": "ENSP00000508909.1:p.Gln149Lys", "hgvsWellDefined": "ENSP00000508909.1:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS830588" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000688158.1:c.*556C>A" ], "proteinEffect": { "hgvs": "ENSP00000509254.1:n.*556C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831470" }, { "coordinates": [ { "allele": "A", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000688308.1:c.445C>A" ], "proteinEffect": { "hgvs": "ENSP00000508752.1:p.Gln149Lys", "hgvsWellDefined": "ENSP00000508752.1:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS831553" }, { "coordinates": [ { "allele": "A", "end": 366, "referenceAllele": "C", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000688922.1:c.366C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831892" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000693560.1:c.964C>A" ], "proteinEffect": { "hgvs": "ENSP00000509861.1:p.Gln322Lys", "hgvsWellDefined": "ENSP00000509861.1:p.Gln322Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS834309" }, { "coordinates": [ { "allele": "A", "end": 1290, "referenceAllele": "C", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000371953.8:c.445C>A" ], "proteinEffect": { "hgvs": "ENSP00000361021.3:p.Gln149Lys", "hgvsWellDefined": "ENSP00000361021.3:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS750898", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371953.8:c.445C>A" }, "RefSeq": { "hgvs": "NM_000314.8:c.445C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361021.3:p.Gln149Lys" }, "RefSeq": { "hgvs": "NP_000305.3:p.Gln149Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1802, "referenceAllele": "C", "start": 1801 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000371953.7:c.445C>A" ], "proteinEffect": { "hgvs": "ENSP00000361021.3:p.Gln149Lys", "hgvsWellDefined": "ENSP00000361021.3:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247170" }, { "coordinates": [ { "allele": "A", "end": 271, "referenceAllele": "C", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000498703.1:n.271C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS334650" }, { "coordinates": [ { "allele": "A", "end": 1477, "referenceAllele": "C", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000610634.1:c.343C>A" ], "proteinEffect": { "hgvs": "ENSP00000477517.1:p.Gln115Lys", "hgvsWellDefined": "ENSP00000477517.1:p.Gln115Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS400508" }, { "@id": "http://reg.genome.network/allele/PA2579816948", "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_000314.5:c.445C>A" ], "proteinEffect": { "hgvs": "NP_000305.3:p.Gln149Lys", "hgvsWellDefined": "NP_000305.3:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006376" }, { "@id": "http://reg.genome.network/allele/PA2579816948", "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_000314.6:c.445C>A" ], "proteinEffect": { "hgvs": "NP_000305.3:p.Gln149Lys", "hgvsWellDefined": "NP_000305.3:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006377" }, { "@id": "http://reg.genome.network/allele/PA3057236130", "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_001304717.2:c.964C>A" ], "proteinEffect": { "hgvs": "NP_001291646.2:p.Gln322Lys", "hgvsWellDefined": "NP_001291646.2:p.Gln322Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS025775" }, { "coordinates": [ { "allele": "A", "end": 1431, "referenceAllele": "C", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_001304718.1:c.-306C>A" ], "proteinEffect": { "hgvs": "NP_001291647.1:n.-306C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS025776" }, { "coordinates": [ { "allele": "A", "end": 1112, "referenceAllele": "C", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "XM_006717926.2:c.400C>A" ], "proteinEffect": { "hgvs": "XP_006717989.1:p.Gln134Lys", "hgvsWellDefined": "XP_006717989.1:p.Gln134Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS072385" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "XM_011539981.1:c.445C>A" ], "proteinEffect": { "hgvs": "XP_011538283.1:p.Gln149Lys", "hgvsWellDefined": "XP_011538283.1:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106931" }, { "coordinates": [ { "allele": "A", "end": 4129, "referenceAllele": "C", "start": 4128 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "XM_011539982.1:c.349C>A" ], "proteinEffect": { "hgvs": "XP_011538284.1:p.Gln117Lys", "hgvsWellDefined": "XP_011538284.1:p.Gln117Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106932" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "XR_945789.1:n.1157C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS139422" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "XR_945790.1:n.1157C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS139423" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "XR_945791.1:n.1157C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS139424" }, { "@id": "http://reg.genome.network/allele/PA2579816948", "coordinates": [ { "allele": "A", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_000314.7:c.445C>A" ], "proteinEffect": { "hgvs": "NP_000305.3:p.Gln149Lys", "hgvsWellDefined": "NP_000305.3:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS662397" }, { "coordinates": [ { "allele": "A", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_001304717.5:c.964C>A" ], "proteinEffect": { "hgvs": "NP_001291646.4:p.Gln322Lys", "hgvsWellDefined": "NP_001291646.4:p.Gln322Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS664314" }, { "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_001304718.2:c.-306C>A" ], "proteinEffect": { "hgvs": "NP_001291647.1:n.-306C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS664315" }, { "@id": "http://reg.genome.network/allele/PA2579816948", "coordinates": [ { "allele": "A", "end": 1290, "referenceAllele": "C", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_000314.8:c.445C>A" ], "proteinEffect": { "hgvs": "NP_000305.3:p.Gln149Lys", "hgvsWellDefined": "NP_000305.3:p.Gln149Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS674788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371953.8:c.445C>A" }, "RefSeq": { "hgvs": "NM_000314.8:c.445C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361021.3:p.Gln149Lys" }, "RefSeq": { "hgvs": "NP_000305.3:p.Gln149Lys" } } } } ], "type": "nucleotide" }