{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340171272", "communityStandardTitle": [ "NM_017739.4(POMGNT1):c.1758C>A (p.Asp586Glu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.46655553G>T?assembly=hg19", "id": "chr1:g.46655553G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.46189881G>T?assembly=hg38", "id": "chr1:g.46189881G>T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 46189881, "referenceAllele": "G", "start": 46189880 } ], "hgvs": [ "NC_000001.11:g.46189881G>T", "CM000663.2:g.46189881G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 46655553, "referenceAllele": "G", "start": 46655552 } ], "hgvs": [ "NC_000001.10:g.46655553G>T", "CM000663.1:g.46655553G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 46428140, "referenceAllele": "G", "start": 46428139 } ], "hgvs": [ "NC_000001.9:g.46428140G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 35425, "referenceAllele": "C", "start": 35424 } ], "hgvs": [ "NG_009205.2:g.35425C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001478" }, { "coordinates": [ { "allele": "A", "end": 35425, "referenceAllele": "C", "start": 35424 } ], "hgvs": [ "NG_009205.3:g.35425C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS733322" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1892, "referenceAllele": "C", "start": 1891 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000396420.8:c.1758C>A" ], "proteinEffect": { "hgvs": "ENSP00000379698.4:p.Asp586Glu", "hgvsWellDefined": "ENSP00000379698.4:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS824502" }, { "coordinates": [ { "allele": "A", "end": 1930, "referenceAllele": "C", "start": 1929 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000497439.6:n.1930C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825477" }, { "coordinates": [ { "allele": "A", "end": 2118, "referenceAllele": "C", "start": 2117 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000684817.1:n.2118C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829746" }, { "coordinates": [ { "allele": "A", "end": 2320, "referenceAllele": "C", "start": 2319 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000684898.1:n.2320C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829782" }, { "coordinates": [ { "allele": "A", "end": 1839, "referenceAllele": "C", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000685230.1:c.*1068C>A" ], "proteinEffect": { "hgvs": "ENSP00000510305.1:n.*1068C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829954" }, { "coordinates": [ { "allele": "A", "end": 2305, "referenceAllele": "C", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000685275.1:n.2305C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829980" }, { "coordinates": [ { "allele": "A", "end": 1827, "referenceAllele": "C", "start": 1826 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000685444.1:c.1659C>A" ], "proteinEffect": { "hgvs": "ENSP00000510762.1:p.Asp553Glu", "hgvsWellDefined": "ENSP00000510762.1:p.Asp553Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS830080" }, { "coordinates": [ { "allele": "A", "end": 2424, "referenceAllele": "C", "start": 2423 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000685704.1:n.2424C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830210" }, { "coordinates": [ { "allele": "A", "end": 4151, "referenceAllele": "C", "start": 4150 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000685833.1:n.4151C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830271" }, { "coordinates": [ { "allele": "A", "end": 2832, "referenceAllele": "C", "start": 2831 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000686252.1:n.2832C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830482" }, { "coordinates": [ { "allele": "A", "end": 2008, "referenceAllele": "C", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000686379.1:c.*882C>A" ], "proteinEffect": { "hgvs": "ENSP00000508913.1:n.*882C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830541" }, { "coordinates": [ { "allele": "A", "end": 3445, "referenceAllele": "C", "start": 3444 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000686724.1:n.3445C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830713" }, { "coordinates": [ { "allele": "A", "end": 1960, "referenceAllele": "C", "start": 1959 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000686737.1:c.1758C>A" ], "proteinEffect": { "hgvs": "ENSP00000508736.1:p.Asp586Glu", "hgvsWellDefined": "ENSP00000508736.1:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS830718" }, { "coordinates": [ { "allele": "A", "end": 2624, "referenceAllele": "C", "start": 2623 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000687112.1:n.2624C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830915" }, { "coordinates": [ { "allele": "A", "end": 1969, "referenceAllele": "C", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000687149.1:c.1797C>A" ], "proteinEffect": { "hgvs": "ENSP00000509745.1:p.Asp599Glu", "hgvsWellDefined": "ENSP00000509745.1:p.Asp599Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS830933" }, { "coordinates": [ { "allele": "A", "end": 1854, "referenceAllele": "C", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000687197.1:c.*698C>A" ], "proteinEffect": { "hgvs": "ENSP00000510749.1:n.*698C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830963" }, { "coordinates": [ { "allele": "A", "end": 3835, "referenceAllele": "C", "start": 3834 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000687235.1:n.3835C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830990" }, { "coordinates": [ { "allele": "A", "end": 2398, "referenceAllele": "C", "start": 2397 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000687613.1:n.2398C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831174" }, { "coordinates": [ { "allele": "A", "end": 2059, "referenceAllele": "C", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000687683.1:c.1758C>A" ], "proteinEffect": { "hgvs": "ENSP00000508522.1:p.Asp586Glu", "hgvsWellDefined": "ENSP00000508522.1:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS831212" }, { "coordinates": [ { "allele": "A", "end": 2295, "referenceAllele": "C", "start": 2294 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000688032.1:n.2295C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831400" }, { "coordinates": [ { "allele": "A", "end": 2409, "referenceAllele": "C", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000688596.1:n.2409C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831713" }, { "coordinates": [ { "allele": "A", "end": 1885, "referenceAllele": "C", "start": 1884 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000688608.1:c.1659C>A" ], "proteinEffect": { "hgvs": "ENSP00000508890.1:p.Asp553Glu", "hgvsWellDefined": "ENSP00000508890.1:p.Asp553Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS831721" }, { "coordinates": [ { "allele": "A", "end": 2210, "referenceAllele": "C", "start": 2209 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000689031.1:n.2210C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831950" }, { "coordinates": [ { "allele": "A", "end": 1811, "referenceAllele": "C", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000689756.1:c.*1390C>A" ], "proteinEffect": { "hgvs": "ENSP00000509023.1:n.*1390C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832344" }, { "coordinates": [ { "allele": "A", "end": 2105, "referenceAllele": "C", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000690377.1:n.2105C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832669" }, { "coordinates": [ { "allele": "A", "end": 1930, "referenceAllele": "C", "start": 1929 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000690678.1:c.1758C>A" ], "proteinEffect": { "hgvs": "ENSP00000508703.1:p.Asp586Glu", "hgvsWellDefined": "ENSP00000508703.1:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS832822" }, { "coordinates": [ { "allele": "A", "end": 1854, "referenceAllele": "C", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000691209.1:c.*698C>A" ], "proteinEffect": { "hgvs": "ENSP00000510112.1:n.*698C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833101" }, { "coordinates": [ { "allele": "A", "end": 1905, "referenceAllele": "C", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000691243.1:c.*149C>A" ], "proteinEffect": { "hgvs": "ENSP00000510654.1:n.*149C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833119" }, { "coordinates": [ { "allele": "A", "end": 2333, "referenceAllele": "C", "start": 2332 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000692202.1:n.2333C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833597" }, { "coordinates": [ { "allele": "A", "end": 1842, "referenceAllele": "C", "start": 1841 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000692322.1:c.*1545C>A" ], "proteinEffect": { "hgvs": "ENSP00000509017.1:n.*1545C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833659" }, { "coordinates": [ { "allele": "A", "end": 1930, "referenceAllele": "C", "start": 1929 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000692369.1:c.1758C>A" ], "proteinEffect": { "hgvs": "ENSP00000508453.1:p.Asp586Glu", "hgvsWellDefined": "ENSP00000508453.1:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS833687" }, { "coordinates": [ { "allele": "A", "end": 3633, "referenceAllele": "C", "start": 3632 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000692599.1:n.3633C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833790" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000692635.1:c.*633C>A" ], "proteinEffect": { "hgvs": "ENSP00000508425.1:n.*633C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833803" }, { "coordinates": [ { "allele": "A", "end": 3534, "referenceAllele": "C", "start": 3533 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000693168.1:n.3534C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834098" }, { "coordinates": [ { "allele": "A", "end": 2132, "referenceAllele": "C", "start": 2131 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000693218.1:c.*319C>A" ], "proteinEffect": { "hgvs": "ENSP00000510577.1:n.*319C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS834124" }, { "coordinates": [ { "allele": "A", "end": 2706, "referenceAllele": "C", "start": 2705 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000693223.1:n.2706C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834126" }, { "coordinates": [ { "allele": "A", "end": 1907, "referenceAllele": "C", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000371984.8:c.1758C>A" ], "proteinEffect": { "hgvs": "ENSP00000361052.3:p.Asp586Glu", "hgvsWellDefined": "ENSP00000361052.3:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS750907", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371984.8:c.1758C>A" }, "RefSeq": { "hgvs": "NM_017739.4:c.1758C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361052.3:p.Asp586Glu" }, "RefSeq": { "hgvs": "NP_060209.4:p.Asp586Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 1916, "referenceAllele": "C", "start": 1915 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000371984.7:c.1758C>A" ], "proteinEffect": { "hgvs": "ENSP00000361052.3:p.Asp586Glu", "hgvsWellDefined": "ENSP00000361052.3:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS268856" }, { "coordinates": [ { "allele": "A", "end": 2409, "referenceAllele": "C", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000371992.1:c.1758C>A" ], "proteinEffect": { "hgvs": "ENSP00000361060.1:p.Asp586Glu", "hgvsWellDefined": "ENSP00000361060.1:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS268859" }, { "coordinates": [ { "allele": "A", "end": 2667, "referenceAllele": "C", "start": 2666 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000396420.7:c.*1427C>A" ], "proteinEffect": { "hgvs": "ENSP00000379698.3:n.*1427C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS277268" }, { "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000480972.1:n.407C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320995" }, { "coordinates": [ { "allele": "A", "end": 2409, "referenceAllele": "C", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "NM_001243766.1:c.1758C>A" ], "proteinEffect": { "hgvs": "NP_001230695.1:p.Asp586Glu", "hgvsWellDefined": "NP_001230695.1:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS018596" }, { "coordinates": [ { "allele": "A", "end": 1830, "referenceAllele": "C", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "NM_001290129.1:c.1692C>A" ], "proteinEffect": { "hgvs": "NP_001277058.1:p.Asp564Glu", "hgvsWellDefined": "NP_001277058.1:p.Asp564Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS024032" }, { "coordinates": [ { "allele": "A", "end": 1796, "referenceAllele": "C", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "NM_001290130.1:c.1329C>A" ], "proteinEffect": { "hgvs": "NP_001277059.1:p.Asp443Glu", "hgvsWellDefined": "NP_001277059.1:p.Asp443Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS024033" }, { "coordinates": [ { "allele": "A", "end": 1922, "referenceAllele": "C", "start": 1921 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "NM_017739.3:c.1758C>A" ], "proteinEffect": { "hgvs": "NP_060209.3:p.Asp586Glu", "hgvsWellDefined": "NP_060209.3:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS035147" }, { "coordinates": [ { "allele": "A", "end": 1917, "referenceAllele": "C", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XM_005271010.1:c.1758C>A" ], "proteinEffect": { "hgvs": "XP_005271067.1:p.Asp586Glu", "hgvsWellDefined": "XP_005271067.1:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS066735" }, { "coordinates": [ { "allele": "A", "end": 1882, "referenceAllele": "C", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XM_006710755.1:c.1758C>A" ], "proteinEffect": { "hgvs": "XP_006710818.1:p.Asp586Glu", "hgvsWellDefined": "XP_006710818.1:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS068791" }, { "coordinates": [ { "allele": "A", "end": 1917, "referenceAllele": "C", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XM_006710756.1:c.1758C>A" ], "proteinEffect": { "hgvs": "XP_006710819.1:p.Asp586Glu", "hgvsWellDefined": "XP_006710819.1:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS068792" }, { "coordinates": [ { "allele": "T", "end": 816, "endIntronDirection": "+", "endIntronOffset": 4573, "referenceAllele": "G", "start": 816, "startIntronDirection": "+", "startIntronOffset": 4572 } ], "gene": "http://reg.genome.network/gene/GN020657", "geneNCBI_id": 10103, "geneSymbol": "TSPAN1", "hgvs": [ "XM_011540460.1:c.678+4573G>T" ], "proteinEffect": { "hgvs": "XP_011538762.1:n.678+4573G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS107405" }, { "coordinates": [ { "allele": "T", "end": 868, "endIntronDirection": "+", "endIntronOffset": 4573, "referenceAllele": "G", "start": 868, "startIntronDirection": "+", "startIntronOffset": 4572 } ], "gene": "http://reg.genome.network/gene/GN020657", "geneNCBI_id": 10103, "geneSymbol": "TSPAN1", "hgvs": [ "XM_011540461.1:c.633+4573G>T" ], "proteinEffect": { "hgvs": "XP_011538763.1:n.633+4573G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS107406" }, { "coordinates": [ { "allele": "A", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XM_011541759.1:c.1692C>A" ], "proteinEffect": { "hgvs": "XP_011540061.1:p.Asp564Glu", "hgvsWellDefined": "XP_011540061.1:p.Asp564Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS108694" }, { "coordinates": [ { "allele": "A", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XM_011541760.1:c.1692C>A" ], "proteinEffect": { "hgvs": "XP_011540062.1:p.Asp564Glu", "hgvsWellDefined": "XP_011540062.1:p.Asp564Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS108695" }, { "coordinates": [ { "allele": "A", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XM_011541761.1:c.666C>A" ], "proteinEffect": { "hgvs": "XP_011540063.1:p.Asp222Glu", "hgvsWellDefined": "XP_011540063.1:p.Asp222Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS108696" }, { "coordinates": [ { "allele": "T", "end": 1138, "endIntronDirection": "+", "endIntronOffset": 4573, "referenceAllele": "G", "start": 1138, "startIntronDirection": "+", "startIntronOffset": 4572 } ], "gene": "http://reg.genome.network/gene/GN020657", "geneNCBI_id": 10103, "geneSymbol": "TSPAN1", "hgvs": [ "XM_011540460.3:c.678+4573G>T" ], "proteinEffect": { "hgvs": "XP_011538762.1:n.678+4573G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS554042" }, { "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "C", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XM_011541760.3:c.1692C>A" ], "proteinEffect": { "hgvs": "XP_011540062.1:p.Asp564Glu", "hgvsWellDefined": "XP_011540062.1:p.Asp564Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS554567" }, { "coordinates": [ { "allele": "A", "end": 1882, "referenceAllele": "C", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XM_017001690.1:c.1758C>A" ], "proteinEffect": { "hgvs": "XP_016857179.1:p.Asp586Glu", "hgvsWellDefined": "XP_016857179.1:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS557794" }, { "coordinates": [ { "allele": "A", "end": 2409, "referenceAllele": "C", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "NM_001243766.2:c.1758C>A" ], "proteinEffect": { "hgvs": "NP_001230695.2:p.Asp586Glu", "hgvsWellDefined": "NP_001230695.2:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS714515" }, { "coordinates": [ { "allele": "A", "end": 1830, "referenceAllele": "C", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "NM_001290129.2:c.1692C>A" ], "proteinEffect": { "hgvs": "NP_001277058.2:p.Asp564Glu", "hgvsWellDefined": "NP_001277058.2:p.Asp564Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS716638" }, { "coordinates": [ { "allele": "A", "end": 1796, "referenceAllele": "C", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "NM_001290130.2:c.1329C>A" ], "proteinEffect": { "hgvs": "NP_001277059.2:p.Asp443Glu", "hgvsWellDefined": "NP_001277059.2:p.Asp443Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS716639" }, { "@id": "http://reg.genome.network/allele/PA3064121627", "coordinates": [ { "allele": "A", "end": 1907, "referenceAllele": "C", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "NM_017739.4:c.1758C>A" ], "proteinEffect": { "hgvs": "NP_060209.4:p.Asp586Glu", "hgvsWellDefined": "NP_060209.4:p.Asp586Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS728258", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371984.8:c.1758C>A" }, "RefSeq": { "hgvs": "NM_017739.4:c.1758C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361052.3:p.Asp586Glu" }, "RefSeq": { "hgvs": "NP_060209.4:p.Asp586Glu" } } } } ], "type": "nucleotide" }