{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381551135", "communityStandardTitle": [ "NM_003977.4(AIP):c.606C>A (p.Tyr202Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.67257646C>A?assembly=hg19", "id": "chr11:g.67257646C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.67490175C>A?assembly=hg38", "id": "chr11:g.67490175C>A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 67490175, "referenceAllele": "C", "start": 67490174 } ], "hgvs": [ "NC_000011.10:g.67490175C>A", "CM000673.2:g.67490175C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 67257646, "referenceAllele": "C", "start": 67257645 } ], "hgvs": [ "NC_000011.9:g.67257646C>A", "CM000673.1:g.67257646C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 67014222, "referenceAllele": "C", "start": 67014221 } ], "hgvs": [ "NC_000011.8:g.67014222C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 12142, "referenceAllele": "C", "start": 12141 } ], "hgvs": [ "NG_008969.1:g.12142C>A", "LRG_460:g.12142C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001340" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 583, "referenceAllele": "C", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000525341.2:c.583C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825703" }, { "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000528641.7:c.417C>A" ], "proteinEffect": { "hgvs": "ENSP00000434982.3:p.Tyr139Ter", "hgvsWellDefined": "ENSP00000434982.3:p.Tyr140_His267delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825755" }, { "coordinates": [ { "allele": "A", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000529797.2:n.1118C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825774" }, { "coordinates": [ { "allele": "A", "end": 559, "endIntronDirection": "+", "endIntronOffset": 720, "referenceAllele": "C", "start": 559, "startIntronDirection": "+", "startIntronOffset": 719 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000682324.1:c.468+720C>A" ], "proteinEffect": { "hgvs": "ENSP00000508017.1:n.468+720C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827316" }, { "coordinates": [ { "allele": "A", "end": 241, "referenceAllele": "C", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000682659.1:c.237C>A" ], "proteinEffect": { "hgvs": "ENSP00000507351.1:p.Tyr79Ter", "hgvsWellDefined": "ENSP00000507351.1:p.Tyr80_His207delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827648" }, { "coordinates": [ { "allele": "A", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000682699.1:c.606C>A" ], "proteinEffect": { "hgvs": "ENSP00000507935.1:p.Tyr202Ter", "hgvsWellDefined": "ENSP00000507935.1:p.Tyr202Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS827688" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000683237.1:c.606C>A" ], "proteinEffect": { "hgvs": "ENSP00000507343.1:p.Tyr202Ter", "hgvsWellDefined": "ENSP00000507343.1:p.Tyr203_Gly283delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828219" }, { "coordinates": [ { "allele": "A", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000683856.1:c.429C>A" ], "proteinEffect": { "hgvs": "ENSP00000507979.1:p.Tyr143Ter", "hgvsWellDefined": "ENSP00000507979.1:p.Tyr144_His271delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828823" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000684006.1:c.606C>A" ], "proteinEffect": { "hgvs": "ENSP00000507269.1:p.Tyr202Ter", "hgvsWellDefined": "ENSP00000507269.1:p.Tyr203_Gly282delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828968" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000684657.1:c.426C>A" ], "proteinEffect": { "hgvs": "ENSP00000507961.1:p.Tyr142Ter", "hgvsWellDefined": "ENSP00000507961.1:p.Tyr143_His270delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829608" }, { "coordinates": [ { "allele": "A", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000279146.8:c.606C>A" ], "proteinEffect": { "hgvs": "ENSP00000279146.3:p.Tyr202Ter", "hgvsWellDefined": "ENSP00000279146.3:p.Tyr203_His330delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743525", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000279146.8:c.606C>A" }, "RefSeq": { "hgvs": "NM_003977.4:c.606C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000279146.3:p.Tyr202Ter" }, "RefSeq": { "hgvs": "NP_003968.3:p.Tyr202Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000279146.7:c.606C>A" ], "proteinEffect": { "hgvs": "ENSP00000279146.3:p.Tyr202Ter", "hgvsWellDefined": "ENSP00000279146.3:p.Tyr203_His330delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252866" }, { "coordinates": [ { "allele": "A", "end": 258, "referenceAllele": "C", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000525341.1:c.258C>A" ], "proteinEffect": { "hgvs": "ENSP00000476993.1:p.Tyr86Ter", "hgvsWellDefined": "ENSP00000476993.1:p.Tyr87_Asp188delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspGlyGluHisArgAlaLeuGlyCysArgGlyLeuArgValValArgGluTrpProPheSerCysHisCysTrpGlyGlnAspLeuAlaPheHisAsnProHisSerGluLeuProArgGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS351385" }, { "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000528641.6:c.417C>A" ], "proteinEffect": { "hgvs": "ENSP00000434982.2:p.Tyr139Ter", "hgvsWellDefined": "ENSP00000434982.2:p.Tyr139Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS354152" }, { "@id": "http://reg.genome.network/allele/PA2826875403", "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302959.1:c.429C>A" ], "proteinEffect": { "hgvs": "NP_001289888.1:p.Tyr143Ter", "hgvsWellDefined": "NP_001289888.1:p.Tyr144_His271delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025376" }, { "@id": "http://reg.genome.network/allele/PA2826876132", "coordinates": [ { "allele": "A", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302960.1:c.606C>A" ], "proteinEffect": { "hgvs": "NP_001289889.1:p.Tyr202Ter", "hgvsWellDefined": "NP_001289889.1:p.Tyr203_Gly283delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025377" }, { "@id": "http://reg.genome.network/allele/PA2580300169", "coordinates": [ { "allele": "A", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_003977.3:c.606C>A" ], "proteinEffect": { "hgvs": "NP_003968.3:p.Tyr202Ter", "hgvsWellDefined": "NP_003968.3:p.Tyr203_His330delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029179" }, { "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "XM_024448761.1:c.606C>A" ], "proteinEffect": { "hgvs": "XP_024304529.1:p.Tyr202Ter", "hgvsWellDefined": "XP_024304529.1:p.Tyr203_His330delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582329" }, { "@id": "http://reg.genome.network/allele/PA2580300169", "coordinates": [ { "allele": "A", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_003977.4:c.606C>A" ], "proteinEffect": { "hgvs": "NP_003968.3:p.Tyr202Ter", "hgvsWellDefined": "NP_003968.3:p.Tyr203_His330delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666271", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000279146.8:c.606C>A" }, "RefSeq": { "hgvs": "NM_003977.4:c.606C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000279146.3:p.Tyr202Ter" }, "RefSeq": { "hgvs": "NP_003968.3:p.Tyr202Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826876132", "coordinates": [ { "allele": "A", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302960.2:c.606C>A" ], "proteinEffect": { "hgvs": "NP_001289889.1:p.Tyr202Ter", "hgvsWellDefined": "NP_001289889.1:p.Tyr203_Gly283delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683502" }, { "@id": "http://reg.genome.network/allele/PA2826875403", "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302959.2:c.429C>A" ], "proteinEffect": { "hgvs": "NP_001289888.1:p.Tyr143Ter", "hgvsWellDefined": "NP_001289888.1:p.Tyr144_His271delinsAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717004" } ], "type": "nucleotide" }