{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA364638305", "communityStandardTitle": [ "NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415068[alleleid]", "alleleId": 415068, "preferredName": "NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426892", "RCV": [ "RCV000490131", "RCV000770903" ], "variationId": 426892 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.79735299G>T?assembly=hg19", "id": "chr6:g.79735299G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.79025582G>T?assembly=hg38", "id": "chr6:g.79025582G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307845", "rs": 1085307845 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 79025582, "referenceAllele": "G", "start": 79025581 } ], "hgvs": [ "NC_000006.12:g.79025582G>T", "CM000668.2:g.79025582G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 79735299, "referenceAllele": "G", "start": 79735298 } ], "hgvs": [ "NC_000006.11:g.79735299G>T", "CM000668.1:g.79735299G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 79792018, "referenceAllele": "G", "start": 79792017 } ], "hgvs": [ "NC_000006.10:g.79792018G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 57717, "referenceAllele": "C", "start": 57716 } ], "hgvs": [ "NG_051932.1:g.57717C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617088" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1022, "referenceAllele": "C", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "ENST00000700012.1:c.878C>A" ], "proteinEffect": { "hgvs": "ENSP00000514753.1:p.Ser293Tyr", "hgvsWellDefined": "ENSP00000514753.1:p.Ser293Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS910883" }, { "coordinates": [ { "allele": "A", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "ENST00000700013.1:c.878C>A" ], "proteinEffect": { "hgvs": "ENSP00000514754.1:p.Ser293Tyr", "hgvsWellDefined": "ENSP00000514754.1:p.Ser293Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS910884" }, { "coordinates": [ { "allele": "A", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "ENST00000700114.1:c.800C>A" ], "proteinEffect": { "hgvs": "ENSP00000514808.1:p.Ser267Tyr", "hgvsWellDefined": "ENSP00000514808.1:p.Ser267Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS910965" }, { "coordinates": [ { "allele": "A", "end": 1014, "referenceAllele": "C", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "ENST00000700115.1:c.860C>A" ], "proteinEffect": { "hgvs": "ENSP00000514809.1:p.Ser287Tyr", "hgvsWellDefined": "ENSP00000514809.1:p.Ser287Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS910966" }, { "coordinates": [ { "allele": "A", "end": 1061, "referenceAllele": "C", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "ENST00000700118.1:c.860C>A" ], "proteinEffect": { "hgvs": "ENSP00000514810.1:p.Ser287Tyr", "hgvsWellDefined": "ENSP00000514810.1:p.Ser287Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS910969" }, { "coordinates": [ { "allele": "A", "end": 1169, "referenceAllele": "C", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "ENST00000700119.1:c.*671C>A" ], "proteinEffect": { "hgvs": "ENSP00000514811.1:n.*671C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS910970" }, { "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "ENST00000275034.5:c.860C>A" ], "proteinEffect": { "hgvs": "ENSP00000275034.3:p.Ser287Tyr", "hgvsWellDefined": "ENSP00000275034.3:p.Ser287Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS743383", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000275034.5:c.860C>A" }, "RefSeq": { "hgvs": "NM_017934.7:c.860C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000275034.3:p.Ser287Tyr" }, "RefSeq": { "hgvs": "NP_060404.4:p.Ser287Tyr" } } } }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "C", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "ENST00000275034.4:c.860C>A" ], "proteinEffect": { "hgvs": "ENSP00000275034.3:p.Ser287Tyr", "hgvsWellDefined": "ENSP00000275034.3:p.Ser287Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS252594" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "NM_017934.5:c.860C>A" ], "proteinEffect": { "hgvs": "NP_060404.3:p.Ser287Tyr", "hgvsWellDefined": "NP_060404.3:p.Ser287Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS035320" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_005248729.3:c.860C>A" ], "proteinEffect": { "hgvs": "XP_005248786.1:p.Ser287Tyr", "hgvsWellDefined": "XP_005248786.1:p.Ser287Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS058565" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_011535917.1:c.860C>A" ], "proteinEffect": { "hgvs": "XP_011534219.1:p.Ser287Tyr", "hgvsWellDefined": "XP_011534219.1:p.Ser287Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS102919" }, { "coordinates": [ { "allele": "A", "end": 761, "referenceAllele": "C", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_011535918.1:c.344C>A" ], "proteinEffect": { "hgvs": "XP_011534220.1:p.Ser115Tyr", "hgvsWellDefined": "XP_011534220.1:p.Ser115Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS102920" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_011535919.1:c.860C>A" ], "proteinEffect": { "hgvs": "XP_011534221.1:p.Ser287Tyr", "hgvsWellDefined": "XP_011534221.1:p.Ser287Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS102921" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XR_942499.1:n.1086C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136777" }, { "@id": "http://reg.genome.network/allele/PA891863303", "coordinates": [ { "allele": "A", "end": 1090, "referenceAllele": "C", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "NM_017934.6:c.860C>A" ], "proteinEffect": { "hgvs": "NP_060404.4:p.Ser287Tyr", "hgvsWellDefined": "NP_060404.4:p.Ser287Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS525841" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_005248729.5:c.860C>A" ], "proteinEffect": { "hgvs": "XP_005248786.1:p.Ser287Tyr", "hgvsWellDefined": "XP_005248786.1:p.Ser287Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS533149" }, { "coordinates": [ { "allele": "A", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_011535918.3:c.344C>A" ], "proteinEffect": { "hgvs": "XP_011534220.1:p.Ser115Tyr", "hgvsWellDefined": "XP_011534220.1:p.Ser115Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS552231" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_017010989.2:c.-870C>A" ], "proteinEffect": { "hgvs": "XP_016866478.1:n.-870C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS564935" }, { "coordinates": [ { "allele": "A", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_017010990.2:c.-870C>A" ], "proteinEffect": { "hgvs": "XP_016866479.1:n.-870C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS564936" }, { "@id": "http://reg.genome.network/allele/PA891863303", "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "NM_017934.7:c.860C>A" ], "proteinEffect": { "hgvs": "NP_060404.4:p.Ser287Tyr", "hgvsWellDefined": "NP_060404.4:p.Ser287Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS669437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000275034.5:c.860C>A" }, "RefSeq": { "hgvs": "NM_017934.7:c.860C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000275034.3:p.Ser287Tyr" }, "RefSeq": { "hgvs": "NP_060404.4:p.Ser287Tyr" } } } } ], "type": "nucleotide" }