{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA394564797", "communityStandardTitle": [ "NM_004380.3(CREBBP):c.4226T>A (p.Phe1409Tyr)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3789633A>T?assembly=hg19", "id": "chr16:g.3789633A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3739632A>T?assembly=hg38", "id": "chr16:g.3739632A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587783492", "rs": 587783492 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 3739632, "referenceAllele": "A", "start": 3739631 } ], "hgvs": [ "NC_000016.10:g.3739632A>T", "CM000678.2:g.3739632A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 3789633, "referenceAllele": "A", "start": 3789632 } ], "hgvs": [ "NC_000016.9:g.3789633A>T", "CM000678.1:g.3789633A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 3729634, "referenceAllele": "A", "start": 3729633 } ], "hgvs": [ "NC_000016.8:g.3729634A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 145489, "referenceAllele": "T", "start": 145488 } ], "hgvs": [ "NG_009873.1:g.145489T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001679" }, { "coordinates": [ { "allele": "A", "end": 146082, "referenceAllele": "T", "start": 146081 } ], "hgvs": [ "NG_009873.2:g.146082T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706099" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5023, "referenceAllele": "T", "start": 5022 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "ENST00000262367.10:c.4226T>A" ], "proteinEffect": { "hgvs": "ENSP00000262367.5:p.Phe1409Tyr", "hgvsWellDefined": "ENSP00000262367.5:p.Phe1409Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS742326", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262367.10:c.4226T>A" }, "RefSeq": { "hgvs": "NM_004380.3:c.4226T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262367.5:p.Phe1409Tyr" }, "RefSeq": { "hgvs": "NP_004371.2:p.Phe1409Tyr" } } } }, { "coordinates": [ { "allele": "A", "end": 5036, "referenceAllele": "T", "start": 5035 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "ENST00000262367.9:c.4226T>A" ], "proteinEffect": { "hgvs": "ENSP00000262367.5:p.Phe1409Tyr", "hgvsWellDefined": "ENSP00000262367.5:p.Phe1409Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS250998" }, { "coordinates": [ { "allele": "A", "end": 4316, "referenceAllele": "T", "start": 4315 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "ENST00000382070.7:c.4112T>A" ], "proteinEffect": { "hgvs": "ENSP00000371502.3:p.Phe1371Tyr", "hgvsWellDefined": "ENSP00000371502.3:p.Phe1371Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS273605" }, { "coordinates": [ { "allele": "A", "end": 2861, "referenceAllele": "T", "start": 2860 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "ENST00000570939.2:c.2861T>A" ], "proteinEffect": { "hgvs": "ENSP00000461002.2:p.Phe954Tyr", "hgvsWellDefined": "ENSP00000461002.2:p.Phe954Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS382300" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "T", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "ENST00000573517.6:c.532T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS383317" }, { "coordinates": [ { "allele": "A", "end": 215, "endIntronDirection": "+", "endIntronOffset": 767, "referenceAllele": "T", "start": 215, "startIntronDirection": "+", "startIntronOffset": 766 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "ENST00000574740.1:n.215+767T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS383808" }, { "coordinates": [ { "allele": "A", "end": 3163, "referenceAllele": "T", "start": 3162 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "ENST00000576720.1:n.3163T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS384581" }, { "coordinates": [ { "allele": "A", "end": 4316, "referenceAllele": "T", "start": 4315 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "NM_001079846.1:c.4112T>A" ], "proteinEffect": { "hgvs": "NP_001073315.1:p.Phe1371Tyr", "hgvsWellDefined": "NP_001073315.1:p.Phe1371Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010110" }, { "@id": "http://reg.genome.network/allele/PA3082956142", "coordinates": [ { "allele": "A", "end": 4430, "referenceAllele": "T", "start": 4429 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "NM_004380.2:c.4226T>A" ], "proteinEffect": { "hgvs": "NP_004371.2:p.Phe1409Tyr", "hgvsWellDefined": "NP_004371.2:p.Phe1409Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS029543" }, { "coordinates": [ { "allele": "A", "end": 4254, "referenceAllele": "T", "start": 4253 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "XM_005255124.3:c.4181T>A" ], "proteinEffect": { "hgvs": "XP_005255181.1:p.Phe1394Tyr", "hgvsWellDefined": "XP_005255181.1:p.Phe1394Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS060845" }, { "coordinates": [ { "allele": "A", "end": 3882, "referenceAllele": "T", "start": 3881 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "XM_005255125.3:c.3809T>A" ], "proteinEffect": { "hgvs": "XP_005255182.1:p.Phe1270Tyr", "hgvsWellDefined": "XP_005255182.1:p.Phe1270Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS060846" }, { "coordinates": [ { "allele": "A", "end": 4206, "endIntronDirection": "+", "endIntronOffset": 767, "referenceAllele": "T", "start": 4206, "startIntronDirection": "+", "startIntronOffset": 766 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "XM_006720848.2:c.4133+767T>A" ], "proteinEffect": { "hgvs": "XP_006720911.1:n.4133+767T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS073834" }, { "coordinates": [ { "allele": "A", "end": 4187, "referenceAllele": "T", "start": 4186 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "XM_011522380.1:c.4172T>A" ], "proteinEffect": { "hgvs": "XP_011520682.1:p.Phe1391Tyr", "hgvsWellDefined": "XP_011520682.1:p.Phe1391Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089532" }, { "coordinates": [ { "allele": "A", "end": 3488, "referenceAllele": "T", "start": 3487 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "XM_011522381.1:c.3473T>A" ], "proteinEffect": { "hgvs": "XP_011520683.1:p.Phe1158Tyr", "hgvsWellDefined": "XP_011520683.1:p.Phe1158Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089533" }, { "coordinates": [ { "allele": "A", "end": 4992, "referenceAllele": "T", "start": 4991 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "XM_005255124.4:c.4181T>A" ], "proteinEffect": { "hgvs": "XP_005255181.1:p.Phe1394Tyr", "hgvsWellDefined": "XP_005255181.1:p.Phe1394Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS534225" }, { "coordinates": [ { "allele": "A", "end": 4620, "referenceAllele": "T", "start": 4619 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "XM_005255125.4:c.3809T>A" ], "proteinEffect": { "hgvs": "XP_005255182.1:p.Phe1270Tyr", "hgvsWellDefined": "XP_005255182.1:p.Phe1270Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS534226" }, { "coordinates": [ { "allele": "A", "end": 4944, "endIntronDirection": "+", "endIntronOffset": 767, "referenceAllele": "T", "start": 4944, "startIntronDirection": "+", "startIntronOffset": 766 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "XM_006720848.3:c.4133+767T>A" ], "proteinEffect": { "hgvs": "XP_006720911.1:n.4133+767T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS540179" }, { "coordinates": [ { "allele": "A", "end": 3919, "referenceAllele": "T", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "XM_011522381.2:c.3473T>A" ], "proteinEffect": { "hgvs": "XP_011520683.1:p.Phe1158Tyr", "hgvsWellDefined": "XP_011520683.1:p.Phe1158Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS546568" }, { "coordinates": [ { "allele": "A", "end": 5031, "referenceAllele": "T", "start": 5030 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "XM_017022944.1:c.4220T>A" ], "proteinEffect": { "hgvs": "XP_016878433.1:p.Phe1407Tyr", "hgvsWellDefined": "XP_016878433.1:p.Phe1407Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS573784" }, { "@id": "http://reg.genome.network/allele/PA3082956142", "coordinates": [ { "allele": "A", "end": 5023, "referenceAllele": "T", "start": 5022 } ], "gene": "http://reg.genome.network/gene/GN002348", "geneNCBI_id": 1387, "geneSymbol": "CREBBP", "hgvs": [ "NM_004380.3:c.4226T>A" ], "proteinEffect": { "hgvs": "NP_004371.2:p.Phe1409Tyr", "hgvsWellDefined": "NP_004371.2:p.Phe1409Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS696123", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262367.10:c.4226T>A" }, "RefSeq": { "hgvs": "NM_004380.3:c.4226T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262367.5:p.Phe1409Tyr" }, "RefSeq": { "hgvs": "NP_004371.2:p.Phe1409Tyr" } } } } ], "type": "nucleotide" }