{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412848917", "communityStandardTitle": [ "NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5434489", "active": true, "id": "COSM5434489" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=975661[alleleid]", "alleleId": 975661, "preferredName": "NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/987513", "RCV": [ "RCV000022872", "RCV003325557" ], "variationId": 987513 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.48374455G>A?assembly=hg19", "id": "chrX:g.48374455G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.48516067G>A?assembly=hg38", "id": "chrX:g.48516067G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2061714949", "rs": 2061714949 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 48516067, "referenceAllele": "G", "start": 48516066 } ], "hgvs": [ "NC_000023.11:g.48516067G>A", "CM000685.2:g.48516067G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 48374455, "referenceAllele": "G", "start": 48374454 } ], "hgvs": [ "NC_000023.10:g.48374455G>A", "CM000685.1:g.48374455G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 48259399, "referenceAllele": "G", "start": 48259398 } ], "hgvs": [ "NC_000023.9:g.48259399G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 12085, "referenceAllele": "G", "start": 12084 } ], "hgvs": [ "NG_009278.1:g.12085G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001538" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1204, "referenceAllele": "G", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000367574.9:c.1061G>A" ], "proteinEffect": { "hgvs": "ENSP00000356546.6:p.Arg354Gln", "hgvsWellDefined": "ENSP00000356546.6:p.Arg354Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS824190" }, { "coordinates": [ { "allele": "A", "end": 1648, "referenceAllele": "G", "start": 1647 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000537758.6:c.1061G>A" ], "proteinEffect": { "hgvs": "ENSP00000446401.3:p.Arg354Gln", "hgvsWellDefined": "ENSP00000446401.3:p.Arg354Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS825889" }, { "coordinates": [ { "allele": "A", "end": 2686, "referenceAllele": "G", "start": 2685 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000682661.1:n.2686G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827650" }, { "coordinates": [ { "allele": "A", "end": 335, "referenceAllele": "G", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000683804.1:n.335G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828774" }, { "coordinates": [ { "allele": "A", "end": 1467, "referenceAllele": "G", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000683923.1:c.1061G>A" ], "proteinEffect": { "hgvs": "ENSP00000506737.1:p.Arg354Gln", "hgvsWellDefined": "ENSP00000506737.1:p.Arg354Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS828889" }, { "coordinates": [ { "allele": "A", "end": 2648, "referenceAllele": "G", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000684722.1:n.2648G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829673" }, { "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "G", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000326194.11:c.1094G>A" ], "proteinEffect": { "hgvs": "ENSP00000322304.6:p.Arg365Gln", "hgvsWellDefined": "ENSP00000322304.6:p.Arg365Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS746744", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326194.11:c.1094G>A" }, "RefSeq": { "hgvs": "NM_203475.3:c.1094G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322304.6:p.Arg365Gln" }, "RefSeq": { "hgvs": "NP_982301.1:p.Arg365Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "G", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000485288.7:c.*729G>A" ], "proteinEffect": { "hgvs": "ENSP00000420445.3:n.*729G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS757498" }, { "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "G", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000326194.10:c.1094G>A" ], "proteinEffect": { "hgvs": "ENSP00000322304.6:p.Arg365Gln", "hgvsWellDefined": "ENSP00000322304.6:p.Arg365Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS258582" }, { "coordinates": [ { "allele": "A", "end": 926, "referenceAllele": "G", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000355092.4:c.926G>A" ], "proteinEffect": { "hgvs": "ENSP00000347207.4:p.Arg309Gln", "hgvsWellDefined": "ENSP00000347207.4:p.Arg309Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS263331" }, { "coordinates": [ { "allele": "A", "end": 1218, "referenceAllele": "G", "start": 1217 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000355961.8:c.1079G>A" ], "proteinEffect": { "hgvs": "ENSP00000348233.4:p.Arg360Gln", "hgvsWellDefined": "ENSP00000348233.4:p.Arg360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS263602" }, { "coordinates": [ { "allele": "A", "end": 1255, "referenceAllele": "G", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000359882.8:c.1076G>A" ], "proteinEffect": { "hgvs": "ENSP00000352946.4:p.Arg359Gln", "hgvsWellDefined": "ENSP00000352946.4:p.Arg359Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS264938" }, { "coordinates": [ { "allele": "A", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000361988.7:c.1061G>A" ], "proteinEffect": { "hgvs": "ENSP00000354978.3:p.Arg354Gln", "hgvsWellDefined": "ENSP00000354978.3:p.Arg354Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS265742" }, { "coordinates": [ { "allele": "A", "end": 1076, "referenceAllele": "G", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000367574.8:c.1076G>A" ], "proteinEffect": { "hgvs": "ENSP00000356546.5:p.Arg359Gln", "hgvsWellDefined": "ENSP00000356546.5:p.Arg359Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS266464" }, { "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "G", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000459953.1:n.423G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS304802" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000472520.5:c.*402G>A" ], "proteinEffect": { "hgvs": "ENSP00000419858.1:n.*402G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS314468" }, { "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "G", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000485288.6:c.*729G>A" ], "proteinEffect": { "hgvs": "ENSP00000420445.2:n.*729G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS324351" }, { "coordinates": [ { "allele": "A", "end": 1490, "referenceAllele": "G", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000491243.5:n.1490G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328888" }, { "coordinates": [ { "allele": "A", "end": 1079, "referenceAllele": "G", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000537758.5:c.1079G>A" ], "proteinEffect": { "hgvs": "ENSP00000446401.2:p.Arg360Gln", "hgvsWellDefined": "ENSP00000446401.2:p.Arg360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS360947" }, { "@id": "http://reg.genome.network/allele/PA2826602263", "coordinates": [ { "allele": "A", "end": 1388, "referenceAllele": "G", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_001282167.1:c.848G>A" ], "proteinEffect": { "hgvs": "NP_001269096.1:p.Arg283Gln", "hgvsWellDefined": "NP_001269096.1:p.Arg283Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS021782" }, { "@id": "http://reg.genome.network/allele/PA2830017030", "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "G", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_022825.3:c.1061G>A" ], "proteinEffect": { "hgvs": "NP_073736.2:p.Arg354Gln", "hgvsWellDefined": "NP_073736.2:p.Arg354Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS037472" }, { "@id": "http://reg.genome.network/allele/PA2830481638", "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "G", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203473.2:c.1079G>A" ], "proteinEffect": { "hgvs": "NP_982299.1:p.Arg360Gln", "hgvsWellDefined": "NP_982299.1:p.Arg360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS045227" }, { "@id": "http://reg.genome.network/allele/PA2830481827", "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203474.1:c.1076G>A" ], "proteinEffect": { "hgvs": "NP_982300.1:p.Arg359Gln", "hgvsWellDefined": "NP_982300.1:p.Arg359Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS045228" }, { "@id": "http://reg.genome.network/allele/PA110749", "coordinates": [ { "allele": "A", "end": 1276, "referenceAllele": "G", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203475.2:c.1094G>A" ], "proteinEffect": { "hgvs": "NP_982301.1:p.Arg365Gln", "hgvsWellDefined": "NP_982301.1:p.Arg365Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS045229" }, { "coordinates": [ { "allele": "A", "end": 1621, "referenceAllele": "G", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_005272635.1:c.1418G>A" ], "proteinEffect": { "hgvs": "XP_005272692.1:p.Arg473Gln", "hgvsWellDefined": "XP_005272692.1:p.Arg473Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS067317" }, { "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_005272636.1:c.1400G>A" ], "proteinEffect": { "hgvs": "XP_005272693.1:p.Arg467Gln", "hgvsWellDefined": "XP_005272693.1:p.Arg467Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS067318" }, { "coordinates": [ { "allele": "A", "end": 1558, "referenceAllele": "G", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_005272637.1:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_005272694.1:p.Arg449Gln", "hgvsWellDefined": "XP_005272694.1:p.Arg449Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS067319" }, { "coordinates": [ { "allele": "A", "end": 1386, "referenceAllele": "G", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724544.2:c.1199G>A" ], "proteinEffect": { "hgvs": "XP_006724607.1:p.Arg400Gln", "hgvsWellDefined": "XP_006724607.1:p.Arg400Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075573" }, { "coordinates": [ { "allele": "A", "end": 1342, "referenceAllele": "G", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724545.2:c.1145G>A" ], "proteinEffect": { "hgvs": "XP_006724608.1:p.Arg382Gln", "hgvsWellDefined": "XP_006724608.1:p.Arg382Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075574" }, { "coordinates": [ { "allele": "A", "end": 1414, "referenceAllele": "G", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724546.2:c.1094G>A" ], "proteinEffect": { "hgvs": "XP_006724609.1:p.Arg365Gln", "hgvsWellDefined": "XP_006724609.1:p.Arg365Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075575" }, { "coordinates": [ { "allele": "A", "end": 1133, "referenceAllele": "G", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724547.1:c.881G>A" ], "proteinEffect": { "hgvs": "XP_006724610.1:p.Arg294Gln", "hgvsWellDefined": "XP_006724610.1:p.Arg294Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075576" }, { "coordinates": [ { "allele": "A", "end": 1532, "referenceAllele": "G", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_011543948.1:c.848G>A" ], "proteinEffect": { "hgvs": "XP_011542250.1:p.Arg283Gln", "hgvsWellDefined": "XP_011542250.1:p.Arg283Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS110861" }, { "coordinates": [ { "allele": "A", "end": 1749, "referenceAllele": "G", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_024452425.1:c.1592G>A" ], "proteinEffect": { "hgvs": "XP_024308193.1:p.Arg531Gln", "hgvsWellDefined": "XP_024308193.1:p.Arg531Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS585918" }, { "@id": "http://reg.genome.network/allele/PA2826602263", "coordinates": [ { "allele": "A", "end": 1355, "referenceAllele": "G", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_001282167.2:c.848G>A" ], "proteinEffect": { "hgvs": "NP_001269096.1:p.Arg283Gln", "hgvsWellDefined": "NP_001269096.1:p.Arg283Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS681711" }, { "@id": "http://reg.genome.network/allele/PA2830017030", "coordinates": [ { "allele": "A", "end": 1210, "referenceAllele": "G", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_022825.4:c.1061G>A" ], "proteinEffect": { "hgvs": "NP_073736.2:p.Arg354Gln", "hgvsWellDefined": "NP_073736.2:p.Arg354Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS698594" }, { "@id": "http://reg.genome.network/allele/PA2830481638", "coordinates": [ { "allele": "A", "end": 1228, "referenceAllele": "G", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203473.3:c.1079G>A" ], "proteinEffect": { "hgvs": "NP_982299.1:p.Arg360Gln", "hgvsWellDefined": "NP_982299.1:p.Arg360Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701650" }, { "@id": "http://reg.genome.network/allele/PA110749", "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "G", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203475.3:c.1094G>A" ], "proteinEffect": { "hgvs": "NP_982301.1:p.Arg365Gln", "hgvsWellDefined": "NP_982301.1:p.Arg365Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701651", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326194.11:c.1094G>A" }, "RefSeq": { "hgvs": "NM_203475.3:c.1094G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322304.6:p.Arg365Gln" }, "RefSeq": { "hgvs": "NP_982301.1:p.Arg365Gln" } } } } ], "type": "nucleotide" }