{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2187897429", "communityStandardTitle": [ "NM_002435.3(MPI):c.652A= (p.Lys218=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516424", "rs": 1057516424 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 74893302, "referenceAllele": "A", "start": 74893301 } ], "hgvs": [ "NC_000015.10:g.74893302A=", "CM000677.2:g.74893302A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 75185643, "referenceAllele": "A", "start": 75185642 } ], "hgvs": [ "NC_000015.9:g.75185643A=", "CM000677.1:g.75185643A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 72972696, "referenceAllele": "A", "start": 72972695 } ], "hgvs": [ "NC_000015.8:g.72972696A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 8234, "referenceAllele": "A", "start": 8233 } ], "hgvs": [ "NG_008921.1:g.8234A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001299" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 684, "referenceAllele": "A", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000352410.9:c.652A=" ], "proteinEffect": { "hgvs": "ENSP00000318318.6:p.Lys218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748488", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000352410.9:c.652A=" }, "RefSeq": { "hgvs": "NM_002435.3:c.652A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000318318.6:p.Lys218=" }, "RefSeq": { "hgvs": "NP_002426.1:p.Lys218=" } } } }, { "coordinates": [ { "allele": "A", "end": 519, "endIntronDirection": "+", "endIntronOffset": 500, "referenceAllele": "A", "start": 519, "startIntronDirection": "+", "startIntronOffset": 499 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000323744.10:c.487+500A=" ], "proteinEffect": { "hgvs": "ENSP00000318192.6:n.487+500A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS258249" }, { "coordinates": [ { "allele": "A", "end": 719, "referenceAllele": "A", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000352410.8:c.652A=" ], "proteinEffect": { "hgvs": "ENSP00000318318.6:p.Lys218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS262863" }, { "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "A", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000535694.5:c.502A=" ], "proteinEffect": { "hgvs": "ENSP00000440447.1:p.Lys168=" }, "referenceSequence": "http://reg.genome.network/refseq/RS359874" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "A", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000561470.5:c.*548A=" ], "proteinEffect": { "hgvs": "ENSP00000454267.1:n.*548A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS376138" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "A", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000562606.5:c.592A=" ], "proteinEffect": { "hgvs": "ENSP00000457020.1:p.Lys198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS376898" }, { "coordinates": [ { "allele": "A", "end": 287, "endIntronDirection": "+", "endIntronOffset": 1813, "referenceAllele": "A", "start": 287, "startIntronDirection": "+", "startIntronOffset": 1812 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000562800.5:c.255+1813A=" ], "proteinEffect": { "hgvs": "ENSP00000457619.1:n.255+1813A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS377016" }, { "coordinates": [ { "allele": "A", "end": 684, "referenceAllele": "A", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000563422.5:c.652A=" ], "proteinEffect": { "hgvs": "ENSP00000457885.1:p.Lys218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS377411" }, { "coordinates": [ { "allele": "A", "end": 773, "referenceAllele": "A", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000563786.5:c.592A=" ], "proteinEffect": { "hgvs": "ENSP00000455241.1:p.Lys198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS377650" }, { "coordinates": [ { "allele": "A", "end": 391, "endIntronDirection": "+", "endIntronOffset": 500, "referenceAllele": "A", "start": 391, "startIntronDirection": "+", "startIntronOffset": 499 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000564003.5:c.337+500A=" ], "proteinEffect": { "hgvs": "ENSP00000454312.1:n.337+500A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS377794" }, { "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "A", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000565576.5:c.652A=" ], "proteinEffect": { "hgvs": "ENSP00000454619.1:p.Lys218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS378844" }, { "coordinates": [ { "allele": "A", "end": 687, "referenceAllele": "A", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000566377.5:c.652A=" ], "proteinEffect": { "hgvs": "ENSP00000455405.1:p.Lys218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS379394" }, { "coordinates": [ { "allele": "A", "end": 448, "endIntronDirection": "+", "endIntronOffset": 500, "referenceAllele": "A", "start": 448, "startIntronDirection": "+", "startIntronOffset": 499 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000567177.1:c.448+500A=" ], "proteinEffect": { "hgvs": "ENSP00000457013.1:n.448+500A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS379943" }, { "coordinates": [ { "allele": "A", "end": 695, "referenceAllele": "A", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "ENST00000569931.5:c.592A=" ], "proteinEffect": { "hgvs": "ENSP00000455161.1:p.Lys198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS381795" }, { "coordinates": [ { "allele": "A", "end": 715, "referenceAllele": "A", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "NM_001289155.1:c.652A=" ], "proteinEffect": { "hgvs": "NP_001276084.1:p.Lys218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS023839" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "A", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "NM_001289156.1:c.502A=" ], "proteinEffect": { "hgvs": "NP_001276085.1:p.Lys168=" }, "referenceSequence": "http://reg.genome.network/refseq/RS023840" }, { "coordinates": [ { "allele": "A", "end": 550, "endIntronDirection": "+", "endIntronOffset": 500, "referenceAllele": "A", "start": 550, "startIntronDirection": "+", "startIntronOffset": 499 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "NM_001289157.1:c.487+500A=" ], "proteinEffect": { "hgvs": "NP_001276086.1:n.487+500A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS023841" }, { "@id": "http://reg.genome.network/allele/PA3082261572", "coordinates": [ { "allele": "A", "end": 715, "referenceAllele": "A", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "NM_002435.2:c.652A=" ], "proteinEffect": { "hgvs": "NP_002426.1:p.Lys218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS027740" }, { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "A", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "XM_011521592.1:c.640A=" ], "proteinEffect": { "hgvs": "XP_011519894.1:p.Lys214=" }, "referenceSequence": "http://reg.genome.network/refseq/RS088752" }, { "coordinates": [ { "allele": "A", "end": 773, "referenceAllele": "A", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "XM_011521593.1:c.592A=" ], "proteinEffect": { "hgvs": "XP_011519895.1:p.Lys198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS088753" }, { "coordinates": [ { "allele": "A", "end": 810, "referenceAllele": "A", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "NM_001330372.1:c.592A=" ], "proteinEffect": { "hgvs": "NP_001317301.1:p.Lys198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS516753" }, { "coordinates": [ { "allele": "A", "end": 773, "referenceAllele": "A", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "XM_017022208.1:c.592A=" ], "proteinEffect": { "hgvs": "XP_016877697.1:p.Lys198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS573215" }, { "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "A", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "XM_017022209.2:c.502A=" ], "proteinEffect": { "hgvs": "XP_016877698.1:p.Lys168=" }, "referenceSequence": "http://reg.genome.network/refseq/RS573216" }, { "@id": "http://reg.genome.network/allele/PA3082261572", "coordinates": [ { "allele": "A", "end": 684, "referenceAllele": "A", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "NM_002435.3:c.652A=" ], "proteinEffect": { "hgvs": "NP_002426.1:p.Lys218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS665523", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000352410.9:c.652A=" }, "RefSeq": { "hgvs": "NM_002435.3:c.652A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000318318.6:p.Lys218=" }, "RefSeq": { "hgvs": "NP_002426.1:p.Lys218=" } } } }, { "coordinates": [ { "allele": "A", "end": 684, "referenceAllele": "A", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "NM_001289155.2:c.652A=" ], "proteinEffect": { "hgvs": "NP_001276084.1:p.Lys218=" }, "referenceSequence": "http://reg.genome.network/refseq/RS682630" }, { "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "A", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "NM_001289156.2:c.502A=" ], "proteinEffect": { "hgvs": "NP_001276085.1:p.Lys168=" }, "referenceSequence": "http://reg.genome.network/refseq/RS682631" }, { "coordinates": [ { "allele": "A", "end": 519, "endIntronDirection": "+", "endIntronOffset": 500, "referenceAllele": "A", "start": 519, "startIntronDirection": "+", "startIntronOffset": 499 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "NM_001289157.2:c.487+500A=" ], "proteinEffect": { "hgvs": "NP_001276086.1:n.487+500A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS682632" }, { "coordinates": [ { "allele": "A", "end": 773, "referenceAllele": "A", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN007216", "geneNCBI_id": 4351, "geneSymbol": "MPI", "hgvs": [ "NM_001330372.2:c.592A=" ], "proteinEffect": { "hgvs": "NP_001317301.1:p.Lys198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS686901" } ], "type": "nucleotide" }