{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1304964672", "communityStandardTitle": [ "NM_001365536.1(SCN9A):c.2827A= (p.Met943=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/12478318", "rs": 12478318 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166277030, "referenceAllele": "T", "start": 166277029 } ], "hgvs": [ "NC_000002.12:g.166277030T=", "CM000664.2:g.166277030T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 167133540, "referenceAllele": "T", "start": 167133539 } ], "hgvs": [ "NC_000002.11:g.167133540T=", "CM000664.1:g.167133540T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166841786, "referenceAllele": "T", "start": 166841785 } ], "hgvs": [ "NC_000002.10:g.166841786T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 103958, "referenceAllele": "A", "start": 103957 } ], "hgvs": [ "NG_012798.1:g.103958A=", "LRG_369:g.103958A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS002537" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3075, "referenceAllele": "A", "start": 3074 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000303354.11:c.2827A=" ], "proteinEffect": { "hgvs": "ENSP00000304748.7:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS745024" }, { "coordinates": [ { "allele": "A", "end": 2827, "referenceAllele": "A", "start": 2826 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000409435.6:c.2827A=" ], "proteinEffect": { "hgvs": "ENSP00000386330.2:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS754301" }, { "coordinates": [ { "allele": "A", "end": 3125, "referenceAllele": "A", "start": 3124 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000642356.2:c.2827A=" ], "proteinEffect": { "hgvs": "ENSP00000495601.1:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS766697", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642356.2:c.2827A=" }, "RefSeq": { "hgvs": "NM_001365536.1:c.2827A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495601.1:p.Met943=" }, "RefSeq": { "hgvs": "NP_001352465.1:p.Met943=" } } } }, { "coordinates": [ { "allele": "A", "end": 2794, "referenceAllele": "A", "start": 2793 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000644316.1:c.2794A=" ], "proteinEffect": { "hgvs": "ENSP00000493939.1:p.Met932=" }, "referenceSequence": "http://reg.genome.network/refseq/RS767756" }, { "coordinates": [ { "allele": "A", "end": 484, "referenceAllele": "A", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000645283.1:c.484A=" ], "proteinEffect": { "hgvs": "ENSP00000496086.1:p.Met162=" }, "referenceSequence": "http://reg.genome.network/refseq/RS768267" }, { "coordinates": [ { "allele": "A", "end": 3042, "referenceAllele": "A", "start": 3041 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000645907.1:c.2794A=" ], "proteinEffect": { "hgvs": "ENSP00000495983.1:p.Met932=" }, "referenceSequence": "http://reg.genome.network/refseq/RS768602" }, { "coordinates": [ { "allele": "A", "end": 1829, "referenceAllele": "A", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000667201.2:c.1829A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS772970" }, { "coordinates": [ { "allele": "A", "end": 3168, "referenceAllele": "A", "start": 3167 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000303354.10:c.2827A=" ], "proteinEffect": { "hgvs": "ENSP00000304748.7:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS255307" }, { "coordinates": [ { "allele": "A", "end": 2827, "referenceAllele": "A", "start": 2826 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000409435.5:c.2827A=" ], "proteinEffect": { "hgvs": "ENSP00000386330.1:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS281545" }, { "coordinates": [ { "allele": "A", "end": 3141, "referenceAllele": "A", "start": 3140 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000409672.5:c.2794A=" ], "proteinEffect": { "hgvs": "ENSP00000386306.1:p.Met932=" }, "referenceSequence": "http://reg.genome.network/refseq/RS281751" }, { "@id": "http://reg.genome.network/allele/PA3066506689", "coordinates": [ { "allele": "A", "end": 3135, "referenceAllele": "A", "start": 3134 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "NM_002977.3:c.2794A=", "LRG_369t1:c.2794A=" ], "proteinEffect": { "hgvs": "NP_002968.1:p.Met932=" }, "referenceSequence": "http://reg.genome.network/refseq/RS028260" }, { "coordinates": [ { "allele": "T", "end": 869, "endIntronDirection": "-", "endIntronOffset": 57, "referenceAllele": "T", "start": 869, "startIntronDirection": "-", "startIntronOffset": 58 } ], "gene": "http://reg.genome.network/gene/GN054069", "geneNCBI_id": 101929680, "geneSymbol": "SCN1A-AS1", "hgvs": [ "NR_110260.1:n.870-58T=" ], "referenceSequence": "http://reg.genome.network/refseq/RS054541" }, { "coordinates": [ { "allele": "A", "end": 3141, "referenceAllele": "A", "start": 3140 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_005246757.1:c.2827A=" ], "proteinEffect": { "hgvs": "XP_005246814.1:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS057779" }, { "coordinates": [ { "allele": "A", "end": 3089, "referenceAllele": "A", "start": 3088 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511616.1:c.2827A=" ], "proteinEffect": { "hgvs": "XP_011509918.1:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078877" }, { "coordinates": [ { "allele": "A", "end": 3141, "referenceAllele": "A", "start": 3140 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511617.1:c.2827A=" ], "proteinEffect": { "hgvs": "XP_011509919.1:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078878" }, { "coordinates": [ { "allele": "A", "end": 3108, "referenceAllele": "A", "start": 3107 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511618.1:c.2794A=" ], "proteinEffect": { "hgvs": "XP_011509920.1:p.Met932=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078879" }, { "coordinates": [ { "allele": "A", "end": 3141, "referenceAllele": "A", "start": 3140 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511619.1:c.2827A=" ], "proteinEffect": { "hgvs": "XP_011509921.1:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078880" }, { "coordinates": [ { "allele": "A", "end": 3125, "referenceAllele": "A", "start": 3124 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "NM_001365536.1:c.2827A=" ], "proteinEffect": { "hgvs": "NP_001352465.1:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS524144", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642356.2:c.2827A=" }, "RefSeq": { "hgvs": "NM_001365536.1:c.2827A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495601.1:p.Met943=" }, "RefSeq": { "hgvs": "NP_001352465.1:p.Met943=" } } } }, { "coordinates": [ { "allele": "A", "end": 3103, "referenceAllele": "A", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511616.3:c.2827A=" ], "proteinEffect": { "hgvs": "XP_011509918.1:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS542212" }, { "coordinates": [ { "allele": "A", "end": 3141, "referenceAllele": "A", "start": 3140 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511617.2:c.2827A=" ], "proteinEffect": { "hgvs": "XP_011509919.1:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS542213" }, { "coordinates": [ { "allele": "A", "end": 3108, "referenceAllele": "A", "start": 3107 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511618.2:c.2794A=" ], "proteinEffect": { "hgvs": "XP_011509920.1:p.Met932=" }, "referenceSequence": "http://reg.genome.network/refseq/RS542214" }, { "coordinates": [ { "allele": "A", "end": 3141, "referenceAllele": "A", "start": 3140 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511619.2:c.2827A=" ], "proteinEffect": { "hgvs": "XP_011509921.1:p.Met943=" }, "referenceSequence": "http://reg.genome.network/refseq/RS542215" }, { "coordinates": [ { "allele": "A", "end": 2670, "referenceAllele": "A", "start": 2669 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_017004668.1:c.2440A=" ], "proteinEffect": { "hgvs": "XP_016860157.1:p.Met814=" }, "referenceSequence": "http://reg.genome.network/refseq/RS560118" }, { "coordinates": [ { "allele": "A", "end": 2228, "referenceAllele": "A", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_017004669.1:c.2083A=" ], "proteinEffect": { "hgvs": "XP_016860158.1:p.Met695=" }, "referenceSequence": "http://reg.genome.network/refseq/RS560119" }, { "coordinates": [ { "allele": "A", "end": 3141, "referenceAllele": "A", "start": 3140 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XR_001738886.1:n.3141A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS589322" } ], "type": "nucleotide" }