{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5293686", "communityStandardTitle": [ "NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2183229[alleleid]", "alleleId": 2183229, "preferredName": "NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2117588", "RCV": [ "RCV003039275" ], "variationId": 2117588 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-134394248-T-C", "id": "9-134394248-T-C", "variant": "9:134394248 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.134394248T>C?assembly=hg19", "id": "chr9:g.134394248T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.131518861T>C?assembly=hg38", "id": "chr9:g.131518861T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/376126988", "rs": 376126988 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-134394248-T-C?dataset=gnomad_r2_1", "id": "9-134394248-T-C", "variant": "9:134394248 T / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 131518861, "referenceAllele": "T", "start": 131518860 } ], "hgvs": [ "NC_000009.12:g.131518861T>C", "CM000671.2:g.131518861T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 134394248, "referenceAllele": "T", "start": 134394247 } ], "hgvs": [ "NC_000009.11:g.134394248T>C", "CM000671.1:g.134394248T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 133384069, "referenceAllele": "T", "start": 133384068 } ], "hgvs": [ "NC_000009.10:g.133384069T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 20960, "referenceAllele": "T", "start": 20959 } ], "hgvs": [ "NG_008896.1:g.20960T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001288" }, { "coordinates": [ { "allele": "C", "end": 20960, "referenceAllele": "T", "start": 20959 } ], "hgvs": [ "NG_008896.2:g.20960T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS733319" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1447, "referenceAllele": "T", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.13:c.1228T>C" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Trp410Arg", "hgvsWellDefined": "ENSP00000343034.7:p.Trp410Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS824001" }, { "coordinates": [ { "allele": "C", "end": 1930, "referenceAllele": "T", "start": 1929 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.7:n.1930T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS824581" }, { "coordinates": [ { "allele": "C", "end": 1447, "referenceAllele": "T", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.6:c.1447T>C" ], "proteinEffect": { "hgvs": "ENSP00000404119.2:p.Trp483Arg", "hgvsWellDefined": "ENSP00000404119.2:p.Trp483Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS824722" }, { "coordinates": [ { "allele": "C", "end": 1954, "referenceAllele": "T", "start": 1953 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.2:c.*1734T>C" ], "proteinEffect": { "hgvs": "ENSP00000504346.2:n.*1734T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS826930" }, { "coordinates": [ { "allele": "C", "end": 2480, "referenceAllele": "T", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.2:c.*1573T>C" ], "proteinEffect": { "hgvs": "ENSP00000503157.2:n.*1573T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS826933" }, { "coordinates": [ { "allele": "C", "end": 1855, "referenceAllele": "T", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682070.1:n.1855T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827068" }, { "coordinates": [ { "allele": "C", "end": 328, "referenceAllele": "T", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682539.1:c.328T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827529" }, { "coordinates": [ { "allele": "C", "end": 1794, "referenceAllele": "T", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682813.1:n.1794T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827801" }, { "coordinates": [ { "allele": "C", "end": 4137, "referenceAllele": "T", "start": 4136 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683392.1:n.4137T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828371" }, { "coordinates": [ { "allele": "C", "end": 1795, "referenceAllele": "T", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683712.1:n.1795T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828683" }, { "coordinates": [ { "allele": "C", "end": 3290, "referenceAllele": "T", "start": 3289 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683900.1:n.3290T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828866" }, { "coordinates": [ { "allele": "C", "end": 2056, "referenceAllele": "T", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684062.1:n.2056T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829021" }, { "coordinates": [ { "allele": "C", "end": 3236, "referenceAllele": "T", "start": 3235 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684579.1:n.3236T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829531" }, { "coordinates": [ { "allele": "C", "end": 617, "referenceAllele": "T", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684679.1:n.617T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829630" }, { "coordinates": [ { "allele": "C", "end": 1426, "referenceAllele": "T", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.12:c.1228T>C" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Trp410Arg", "hgvsWellDefined": "ENSP00000343034.7:p.Trp410Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS747952" }, { "coordinates": [ { "allele": "C", "end": 528, "referenceAllele": "T", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372220.5:c.259T>C" ], "proteinEffect": { "hgvs": "ENSP00000361294.5:p.Trp87Arg", "hgvsWellDefined": "ENSP00000361294.5:p.Trp87Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS750959" }, { "coordinates": [ { "allele": "C", "end": 1771, "referenceAllele": "T", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.9:c.1456T>C" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:p.Trp486Arg", "hgvsWellDefined": "ENSP00000361302.3:p.Trp486Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS750961" }, { "coordinates": [ { "allele": "C", "end": 1576, "referenceAllele": "T", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.8:c.1390T>C" ], "proteinEffect": { "hgvs": "ENSP00000385797.4:p.Trp464Arg", "hgvsWellDefined": "ENSP00000385797.4:p.Trp464Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS754017", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.1390T>C" }, "RefSeq": { "hgvs": "NM_001077365.2:c.1390T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Trp464Arg" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Trp464Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 1828, "referenceAllele": "T", "start": 1827 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676640.1:c.1390T>C" ], "proteinEffect": { "hgvs": "ENSP00000503281.1:p.Trp464Arg", "hgvsWellDefined": "ENSP00000503281.1:p.Trp464Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS776317" }, { "coordinates": [ { "allele": "C", "end": 821, "referenceAllele": "T", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676803.1:c.565T>C" ], "proteinEffect": { "hgvs": "ENSP00000503093.1:p.Trp189Arg", "hgvsWellDefined": "ENSP00000503093.1:p.Trp189Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS776475" }, { "coordinates": [ { "allele": "C", "end": 1125, "referenceAllele": "T", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676835.1:c.*605T>C" ], "proteinEffect": { "hgvs": "ENSP00000502911.1:n.*605T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776507" }, { "coordinates": [ { "allele": "C", "end": 1168, "referenceAllele": "T", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677029.1:c.934T>C" ], "proteinEffect": { "hgvs": "ENSP00000502936.1:p.Trp312Arg", "hgvsWellDefined": "ENSP00000502936.1:p.Trp312Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS776698" }, { "coordinates": [ { "allele": "C", "end": 1324, "referenceAllele": "T", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677099.1:c.*1100T>C" ], "proteinEffect": { "hgvs": "ENSP00000504553.1:n.*1100T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776765" }, { "coordinates": [ { "allele": "C", "end": 1337, "referenceAllele": "T", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677216.1:c.1039T>C" ], "proteinEffect": { "hgvs": "ENSP00000503772.1:p.Trp347Arg", "hgvsWellDefined": "ENSP00000503772.1:p.Trp347Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS776879" }, { "coordinates": [ { "allele": "C", "end": 415, "referenceAllele": "T", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677221.1:n.415T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS776884" }, { "coordinates": [ { "allele": "C", "end": 1855, "referenceAllele": "T", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.1:c.*767T>C" ], "proteinEffect": { "hgvs": "ENSP00000504346.1:n.*767T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776958" }, { "coordinates": [ { "allele": "C", "end": 1335, "referenceAllele": "T", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677444.1:c.1335T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777106" }, { "coordinates": [ { "allele": "C", "end": 871, "referenceAllele": "T", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677586.1:n.871T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777245" }, { "coordinates": [ { "allele": "C", "end": 1205, "referenceAllele": "T", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677626.1:c.1039T>C" ], "proteinEffect": { "hgvs": "ENSP00000503552.1:p.Trp347Arg", "hgvsWellDefined": "ENSP00000503552.1:p.Trp347Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS777284" }, { "coordinates": [ { "allele": "C", "end": 1350, "referenceAllele": "T", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677677.1:n.1350T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777335" }, { "coordinates": [ { "allele": "C", "end": 1155, "referenceAllele": "T", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677853.1:c.*398T>C" ], "proteinEffect": { "hgvs": "ENSP00000503488.1:n.*398T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS777505" }, { "coordinates": [ { "allele": "C", "end": 549, "referenceAllele": "T", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678202.1:n.549T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777851" }, { "coordinates": [ { "allele": "C", "end": 1795, "referenceAllele": "T", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.1:c.*767T>C" ], "proteinEffect": { "hgvs": "ENSP00000503157.1:n.*767T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS777912" }, { "coordinates": [ { "allele": "C", "end": 1456, "referenceAllele": "T", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678303.1:c.1300T>C" ], "proteinEffect": { "hgvs": "ENSP00000503696.1:p.Trp434Arg", "hgvsWellDefined": "ENSP00000503696.1:p.Trp434Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS777951" }, { "coordinates": [ { "allele": "C", "end": 2103, "referenceAllele": "T", "start": 2102 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678366.1:c.*1639T>C" ], "proteinEffect": { "hgvs": "ENSP00000504353.1:n.*1639T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778013" }, { "coordinates": [ { "allele": "C", "end": 2223, "referenceAllele": "T", "start": 2222 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678546.1:c.*1335T>C" ], "proteinEffect": { "hgvs": "ENSP00000503062.1:n.*1335T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778187" }, { "coordinates": [ { "allele": "C", "end": 1813, "referenceAllele": "T", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678548.1:c.*1462T>C" ], "proteinEffect": { "hgvs": "ENSP00000503934.1:n.*1462T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778189" }, { "coordinates": [ { "allele": "C", "end": 1226, "referenceAllele": "T", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678626.1:n.1226T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS778266" }, { "coordinates": [ { "allele": "C", "end": 471, "referenceAllele": "T", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678733.1:c.471T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS778372" }, { "coordinates": [ { "allele": "C", "end": 2007, "referenceAllele": "T", "start": 2006 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678739.1:c.*1716T>C" ], "proteinEffect": { "hgvs": "ENSP00000503806.1:n.*1716T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778378" }, { "coordinates": [ { "allele": "C", "end": 1452, "referenceAllele": "T", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678833.1:c.*837T>C" ], "proteinEffect": { "hgvs": "ENSP00000503893.1:n.*837T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778471" }, { "coordinates": [ { "allele": "C", "end": 1398, "referenceAllele": "T", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679023.1:c.1228T>C" ], "proteinEffect": { "hgvs": "ENSP00000503718.1:p.Trp410Arg", "hgvsWellDefined": "ENSP00000503718.1:p.Trp410Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS778658" }, { "coordinates": [ { "allele": "C", "end": 1009, "referenceAllele": "T", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679076.1:c.1009T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS778711" }, { "coordinates": [ { "allele": "C", "end": 1689, "referenceAllele": "T", "start": 1688 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679111.1:c.*146T>C" ], "proteinEffect": { "hgvs": "ENSP00000504257.1:n.*146T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778746" }, { "coordinates": [ { "allele": "C", "end": 1168, "referenceAllele": "T", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679189.1:c.1039T>C" ], "proteinEffect": { "hgvs": "ENSP00000503356.1:p.Trp347Arg", "hgvsWellDefined": "ENSP00000503356.1:p.Trp347Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS778824" }, { "coordinates": [ { "allele": "C", "end": 1424, "referenceAllele": "T", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.11:c.1228T>C" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Trp410Arg", "hgvsWellDefined": "ENSP00000343034.7:p.Trp410Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS261233" }, { "coordinates": [ { "allele": "C", "end": 253, "referenceAllele": "T", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372220.4:c.253T>C" ], "proteinEffect": { "hgvs": "ENSP00000361294.4:p.Trp85Arg", "hgvsWellDefined": "ENSP00000361294.4:p.Trp85Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS268983" }, { "coordinates": [ { "allele": "C", "end": 1635, "referenceAllele": "T", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.7:c.1456T>C" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:p.Trp486Arg", "hgvsWellDefined": "ENSP00000361302.3:p.Trp486Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS268987" }, { "coordinates": [ { "allele": "C", "end": 1550, "referenceAllele": "T", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.7:c.1390T>C" ], "proteinEffect": { "hgvs": "ENSP00000385797.3:p.Trp464Arg", "hgvsWellDefined": "ENSP00000385797.3:p.Trp464Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS279592" }, { "coordinates": [ { "allele": "C", "end": 1333, "referenceAllele": "T", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.6:c.1039T>C" ], "proteinEffect": { "hgvs": "ENSP00000384531.2:p.Trp347Arg", "hgvsWellDefined": "ENSP00000384531.2:p.Trp347Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS280183" }, { "coordinates": [ { "allele": "C", "end": 1832, "referenceAllele": "T", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.5:c.1390T>C" ], "proteinEffect": { "hgvs": "ENSP00000404119.1:p.Trp464Arg", "hgvsWellDefined": "ENSP00000404119.1:p.Trp464Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS287545" }, { "coordinates": [ { "allele": "C", "end": 94, "referenceAllele": "T", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000467848.1:n.94T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS310907" }, { "coordinates": [ { "allele": "C", "end": 1945, "referenceAllele": "T", "start": 1944 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000485278.5:n.1945T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS324344" }, { "@id": "http://reg.genome.network/allele/PA2825445735", "coordinates": [ { "allele": "C", "end": 1592, "referenceAllele": "T", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.1:c.1390T>C" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Trp464Arg", "hgvsWellDefined": "NP_001070833.1:p.Trp464Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS009962" }, { "@id": "http://reg.genome.network/allele/PA2825446871", "coordinates": [ { "allele": "C", "end": 1440, "referenceAllele": "T", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.1:c.1228T>C" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Trp410Arg", "hgvsWellDefined": "NP_001070834.1:p.Trp410Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS009963" }, { "@id": "http://reg.genome.network/allele/PA2825815656", "coordinates": [ { "allele": "C", "end": 1832, "referenceAllele": "T", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.1:c.1390T>C" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Trp464Arg", "hgvsWellDefined": "NP_001129585.1:p.Trp464Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012602" }, { "@id": "http://reg.genome.network/allele/PA2825816754", "coordinates": [ { "allele": "C", "end": 1333, "referenceAllele": "T", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.1:c.1039T>C" ], "proteinEffect": { "hgvs": "NP_001129586.1:p.Trp347Arg", "hgvsWellDefined": "NP_001129586.1:p.Trp347Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012603" }, { "coordinates": [ { "allele": "C", "end": 1658, "referenceAllele": "T", "start": 1657 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.3:c.1456T>C" ], "proteinEffect": { "hgvs": "NP_009102.3:p.Trp486Arg", "hgvsWellDefined": "NP_009102.3:p.Trp486Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS032102" }, { "coordinates": [ { "allele": "C", "end": 1784, "referenceAllele": "T", "start": 1783 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272156.1:c.1456T>C" ], "proteinEffect": { "hgvs": "XP_005272213.1:p.Trp486Arg", "hgvsWellDefined": "XP_005272213.1:p.Trp486Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS067159" }, { "coordinates": [ { "allele": "C", "end": 1513, "referenceAllele": "T", "start": 1512 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272158.1:c.1294T>C" ], "proteinEffect": { "hgvs": "XP_005272215.1:p.Trp432Arg", "hgvsWellDefined": "XP_005272215.1:p.Trp432Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS067160" }, { "coordinates": [ { "allele": "C", "end": 1403, "referenceAllele": "T", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272159.1:c.1105T>C" ], "proteinEffect": { "hgvs": "XP_005272216.1:p.Trp369Arg", "hgvsWellDefined": "XP_005272216.1:p.Trp369Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS067161" }, { "coordinates": [ { "allele": "C", "end": 1788, "referenceAllele": "T", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.1:c.259T>C" ], "proteinEffect": { "hgvs": "XP_005272219.1:p.Trp87Arg", "hgvsWellDefined": "XP_005272219.1:p.Trp87Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS067162" }, { "coordinates": [ { "allele": "C", "end": 1436, "referenceAllele": "T", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.1:c.1105T>C" ], "proteinEffect": { "hgvs": "XP_006716995.1:p.Trp369Arg", "hgvsWellDefined": "XP_006716995.1:p.Trp369Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071906" }, { "coordinates": [ { "allele": "C", "end": 1511, "referenceAllele": "T", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.1:c.1309T>C" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Trp437Arg", "hgvsWellDefined": "XP_011516442.1:p.Trp437Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085316" }, { "coordinates": [ { "allele": "C", "end": 1445, "referenceAllele": "T", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.1:c.1243T>C" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Trp415Arg", "hgvsWellDefined": "XP_011516443.1:p.Trp415Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085317" }, { "coordinates": [ { "allele": "C", "end": 1313, "referenceAllele": "T", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.1:c.1147T>C" ], "proteinEffect": { "hgvs": "XP_011516444.1:p.Trp383Arg", "hgvsWellDefined": "XP_011516444.1:p.Trp383Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085318" }, { "coordinates": [ { "allele": "C", "end": 1343, "referenceAllele": "T", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.1:c.1141T>C" ], "proteinEffect": { "hgvs": "XP_011516445.1:p.Trp381Arg", "hgvsWellDefined": "XP_011516445.1:p.Trp381Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085319" }, { "coordinates": [ { "allele": "C", "end": 1771, "referenceAllele": "T", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518144.1:c.*146T>C" ], "proteinEffect": { "hgvs": "XP_011516446.1:n.*146T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085320" }, { "coordinates": [ { "allele": "C", "end": 1179, "referenceAllele": "T", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.1:c.1000T>C" ], "proteinEffect": { "hgvs": "XP_011516447.1:p.Trp334Arg", "hgvsWellDefined": "XP_011516447.1:p.Trp334Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085321" }, { "coordinates": [ { "allele": "C", "end": 1482, "referenceAllele": "T", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518146.1:c.*146T>C" ], "proteinEffect": { "hgvs": "XP_011516448.1:n.*146T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085322" }, { "coordinates": [ { "allele": "C", "end": 434, "referenceAllele": "T", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518147.1:c.328T>C" ], "proteinEffect": { "hgvs": "XP_011516449.1:p.Trp110Arg", "hgvsWellDefined": "XP_011516449.1:p.Trp110Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085323" }, { "coordinates": [ { "allele": "C", "end": 1632, "referenceAllele": "T", "start": 1631 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_929703.1:n.1632T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125832" }, { "coordinates": [ { "allele": "C", "end": 1898, "referenceAllele": "T", "start": 1897 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.1:c.1456T>C" ], "proteinEffect": { "hgvs": "NP_001340122.1:p.Trp486Arg", "hgvsWellDefined": "NP_001340122.1:p.Trp486Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS521539" }, { "@id": "http://reg.genome.network/allele/PA2827713710", "coordinates": [ { "allele": "C", "end": 1680, "referenceAllele": "T", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.1:c.1228T>C" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Trp410Arg", "hgvsWellDefined": "NP_001340123.1:p.Trp410Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS521540" }, { "@id": "http://reg.genome.network/allele/PA2827714239", "coordinates": [ { "allele": "C", "end": 1485, "referenceAllele": "T", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.1:c.1039T>C" ], "proteinEffect": { "hgvs": "NP_001340124.1:p.Trp347Arg", "hgvsWellDefined": "NP_001340124.1:p.Trp347Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS521541" }, { "@id": "http://reg.genome.network/allele/PA2827714816", "coordinates": [ { "allele": "C", "end": 1502, "referenceAllele": "T", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.1:c.1300T>C" ], "proteinEffect": { "hgvs": "NP_001340125.1:p.Trp434Arg", "hgvsWellDefined": "NP_001340125.1:p.Trp434Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS521542" }, { "coordinates": [ { "allele": "C", "end": 1506, "referenceAllele": "T", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.1:c.1294T>C" ], "proteinEffect": { "hgvs": "NP_001340126.1:p.Trp432Arg", "hgvsWellDefined": "NP_001340126.1:p.Trp432Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS521543" }, { "coordinates": [ { "allele": "C", "end": 2207, "referenceAllele": "T", "start": 2206 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.1:c.1294T>C" ], "proteinEffect": { "hgvs": "NP_001340127.1:p.Trp432Arg", "hgvsWellDefined": "NP_001340127.1:p.Trp432Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS521544" }, { "coordinates": [ { "allele": "C", "end": 1399, "referenceAllele": "T", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.1:c.1105T>C" ], "proteinEffect": { "hgvs": "NP_001340128.1:p.Trp369Arg", "hgvsWellDefined": "NP_001340128.1:p.Trp369Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS521545" }, { "@id": "http://reg.genome.network/allele/PA2827717036", "coordinates": [ { "allele": "C", "end": 1186, "referenceAllele": "T", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.1:c.934T>C" ], "proteinEffect": { "hgvs": "NP_001340129.1:p.Trp312Arg", "hgvsWellDefined": "NP_001340129.1:p.Trp312Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS521546" }, { "coordinates": [ { "allele": "C", "end": 1440, "referenceAllele": "T", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.1:n.1440T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531129" }, { "coordinates": [ { "allele": "C", "end": 1658, "referenceAllele": "T", "start": 1657 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.1:n.1658T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531130" }, { "coordinates": [ { "allele": "C", "end": 1579, "referenceAllele": "T", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.1:n.1579T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531131" }, { "coordinates": [ { "allele": "C", "end": 1333, "referenceAllele": "T", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.1:n.1333T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531132" }, { "coordinates": [ { "allele": "C", "end": 1731, "referenceAllele": "T", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.1:n.1731T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531133" }, { "coordinates": [ { "allele": "C", "end": 1365, "referenceAllele": "T", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.1:n.1365T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531134" }, { "coordinates": [ { "allele": "C", "end": 1490, "referenceAllele": "T", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.1:n.1490T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531135" }, { "coordinates": [ { "allele": "C", "end": 1445, "referenceAllele": "T", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.1:n.1445T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531136" }, { "coordinates": [ { "allele": "C", "end": 1971, "referenceAllele": "T", "start": 1970 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.1:n.1971T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531137" }, { "coordinates": [ { "allele": "C", "end": 1570, "referenceAllele": "T", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.1:n.1570T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531138" }, { "coordinates": [ { "allele": "C", "end": 1826, "referenceAllele": "T", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.3:c.259T>C" ], "proteinEffect": { "hgvs": "XP_005272219.1:p.Trp87Arg", "hgvsWellDefined": "XP_005272219.1:p.Trp87Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS537254" }, { "coordinates": [ { "allele": "C", "end": 1436, "referenceAllele": "T", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.2:c.1105T>C" ], "proteinEffect": { "hgvs": "XP_006716995.1:p.Trp369Arg", "hgvsWellDefined": "XP_006716995.1:p.Trp369Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS539284" }, { "coordinates": [ { "allele": "C", "end": 1511, "referenceAllele": "T", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.2:c.1309T>C" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Trp437Arg", "hgvsWellDefined": "XP_011516442.1:p.Trp437Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544786" }, { "coordinates": [ { "allele": "C", "end": 1445, "referenceAllele": "T", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.2:c.1243T>C" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Trp415Arg", "hgvsWellDefined": "XP_011516443.1:p.Trp415Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544787" }, { "coordinates": [ { "allele": "C", "end": 1313, "referenceAllele": "T", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.2:c.1147T>C" ], "proteinEffect": { "hgvs": "XP_011516444.1:p.Trp383Arg", "hgvsWellDefined": "XP_011516444.1:p.Trp383Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544788" }, { "coordinates": [ { "allele": "C", "end": 1343, "referenceAllele": "T", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.2:c.1141T>C" ], "proteinEffect": { "hgvs": "XP_011516445.1:p.Trp381Arg", "hgvsWellDefined": "XP_011516445.1:p.Trp381Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544789" }, { "coordinates": [ { "allele": "C", "end": 1179, "referenceAllele": "T", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.2:c.1000T>C" ], "proteinEffect": { "hgvs": "XP_011516447.1:p.Trp334Arg", "hgvsWellDefined": "XP_011516447.1:p.Trp334Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544790" }, { "coordinates": [ { "allele": "C", "end": 1585, "referenceAllele": "T", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_017014205.2:c.259T>C" ], "proteinEffect": { "hgvs": "XP_016869694.1:p.Trp87Arg", "hgvsWellDefined": "XP_016869694.1:p.Trp87Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567232" }, { "coordinates": [ { "allele": "C", "end": 1168, "referenceAllele": "T", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447380.1:c.259T>C" ], "proteinEffect": { "hgvs": "XP_024303148.1:p.Trp87Arg", "hgvsWellDefined": "XP_024303148.1:p.Trp87Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS580963" }, { "coordinates": [ { "allele": "C", "end": 1661, "referenceAllele": "T", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447381.1:c.565T>C" ], "proteinEffect": { "hgvs": "XP_024303149.1:p.Trp189Arg", "hgvsWellDefined": "XP_024303149.1:p.Trp189Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS580964" }, { "coordinates": [ { "allele": "C", "end": 3224, "referenceAllele": "T", "start": 3223 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447382.1:c.259T>C" ], "proteinEffect": { "hgvs": "XP_024303150.1:p.Trp87Arg", "hgvsWellDefined": "XP_024303150.1:p.Trp87Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS580965" }, { "coordinates": [ { "allele": "C", "end": 1560, "referenceAllele": "T", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746160.2:n.1560T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594520" }, { "coordinates": [ { "allele": "C", "end": 1765, "referenceAllele": "T", "start": 1764 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746162.2:n.1765T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594521" }, { "coordinates": [ { "allele": "C", "end": 1482, "referenceAllele": "T", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746164.1:n.1482T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594522" }, { "coordinates": [ { "allele": "C", "end": 1777, "referenceAllele": "T", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746166.2:n.1777T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594523" }, { "@id": "http://reg.genome.network/allele/PA2825445735", "coordinates": [ { "allele": "C", "end": 1576, "referenceAllele": "T", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.2:c.1390T>C" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Trp464Arg", "hgvsWellDefined": "NP_001070833.1:p.Trp464Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS676149", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.1390T>C" }, "RefSeq": { "hgvs": "NM_001077365.2:c.1390T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Trp464Arg" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Trp464Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2825446871", "coordinates": [ { "allele": "C", "end": 1424, "referenceAllele": "T", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.2:c.1228T>C" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Trp410Arg", "hgvsWellDefined": "NP_001070834.1:p.Trp410Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS676150" }, { "@id": "http://reg.genome.network/allele/PA2825815656", "coordinates": [ { "allele": "C", "end": 1816, "referenceAllele": "T", "start": 1815 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.2:c.1390T>C" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Trp464Arg", "hgvsWellDefined": "NP_001129585.1:p.Trp464Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677395" }, { "@id": "http://reg.genome.network/allele/PA2825816754", "coordinates": [ { "allele": "C", "end": 1317, "referenceAllele": "T", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.2:c.1039T>C" ], "proteinEffect": { "hgvs": "NP_001129586.1:p.Trp347Arg", "hgvsWellDefined": "NP_001129586.1:p.Trp347Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677396" }, { "@id": "http://reg.genome.network/allele/PA2827713129", "coordinates": [ { "allele": "C", "end": 1882, "referenceAllele": "T", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.2:c.1456T>C" ], "proteinEffect": { "hgvs": "NP_001340122.2:p.Trp486Arg", "hgvsWellDefined": "NP_001340122.2:p.Trp486Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS689628" }, { "@id": "http://reg.genome.network/allele/PA2827713710", "coordinates": [ { "allele": "C", "end": 1664, "referenceAllele": "T", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.2:c.1228T>C" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Trp410Arg", "hgvsWellDefined": "NP_001340123.1:p.Trp410Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS689629" }, { "@id": "http://reg.genome.network/allele/PA2827714239", "coordinates": [ { "allele": "C", "end": 1469, "referenceAllele": "T", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.2:c.1039T>C" ], "proteinEffect": { "hgvs": "NP_001340124.1:p.Trp347Arg", "hgvsWellDefined": "NP_001340124.1:p.Trp347Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS689630" }, { "@id": "http://reg.genome.network/allele/PA2827714816", "coordinates": [ { "allele": "C", "end": 1486, "referenceAllele": "T", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.2:c.1300T>C" ], "proteinEffect": { "hgvs": "NP_001340125.1:p.Trp434Arg", "hgvsWellDefined": "NP_001340125.1:p.Trp434Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS689631" }, { "@id": "http://reg.genome.network/allele/PA2827715416", "coordinates": [ { "allele": "C", "end": 1490, "referenceAllele": "T", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.2:c.1294T>C" ], "proteinEffect": { "hgvs": "NP_001340126.2:p.Trp432Arg", "hgvsWellDefined": "NP_001340126.2:p.Trp432Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS689632" }, { "@id": "http://reg.genome.network/allele/PA2827716003", "coordinates": [ { "allele": "C", "end": 2191, "referenceAllele": "T", "start": 2190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.2:c.1294T>C" ], "proteinEffect": { "hgvs": "NP_001340127.2:p.Trp432Arg", "hgvsWellDefined": "NP_001340127.2:p.Trp432Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS689633" }, { "@id": "http://reg.genome.network/allele/PA2827716545", "coordinates": [ { "allele": "C", "end": 1383, "referenceAllele": "T", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.2:c.1105T>C" ], "proteinEffect": { "hgvs": "NP_001340128.2:p.Trp369Arg", "hgvsWellDefined": "NP_001340128.2:p.Trp369Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS689634" }, { "@id": "http://reg.genome.network/allele/PA2827717036", "coordinates": [ { "allele": "C", "end": 1170, "referenceAllele": "T", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.2:c.934T>C" ], "proteinEffect": { "hgvs": "NP_001340129.1:p.Trp312Arg", "hgvsWellDefined": "NP_001340129.1:p.Trp312Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS689635" }, { "@id": "http://reg.genome.network/allele/PA2828535867", "coordinates": [ { "allele": "C", "end": 1574, "referenceAllele": "T", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374689.1:c.1378T>C" ], "proteinEffect": { "hgvs": "NP_001361618.1:p.Trp460Arg", "hgvsWellDefined": "NP_001361618.1:p.Trp460Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693346" }, { "coordinates": [ { "allele": "C", "end": 1551, "endIntronDirection": "+", "endIntronOffset": 324, "referenceAllele": "T", "start": 1551, "startIntronDirection": "+", "startIntronOffset": 323 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374690.1:c.1365+324T>C" ], "proteinEffect": { "hgvs": "NP_001361619.1:n.1365+324T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS693347" }, { "@id": "http://reg.genome.network/allele/PA2828536931", "coordinates": [ { "allele": "C", "end": 1506, "referenceAllele": "T", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374691.1:c.1039T>C" ], "proteinEffect": { "hgvs": "NP_001361620.1:p.Trp347Arg", "hgvsWellDefined": "NP_001361620.1:p.Trp347Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693348" }, { "@id": "http://reg.genome.network/allele/PA2828537433", "coordinates": [ { "allele": "C", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374692.1:c.1039T>C" ], "proteinEffect": { "hgvs": "NP_001361621.1:p.Trp347Arg", "hgvsWellDefined": "NP_001361621.1:p.Trp347Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693349" }, { "@id": "http://reg.genome.network/allele/PA2828537939", "coordinates": [ { "allele": "C", "end": 1235, "referenceAllele": "T", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374693.1:c.1039T>C" ], "proteinEffect": { "hgvs": "NP_001361622.1:p.Trp347Arg", "hgvsWellDefined": "NP_001361622.1:p.Trp347Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693350" }, { "@id": "http://reg.genome.network/allele/PA2828538437", "coordinates": [ { "allele": "C", "end": 1337, "referenceAllele": "T", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374695.1:c.1000T>C" ], "proteinEffect": { "hgvs": "NP_001361624.1:p.Trp334Arg", "hgvsWellDefined": "NP_001361624.1:p.Trp334Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693351" }, { "@id": "http://reg.genome.network/allele/PA2829694888", "coordinates": [ { "allele": "C", "end": 1642, "referenceAllele": "T", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.4:c.1456T>C" ], "proteinEffect": { "hgvs": "NP_009102.4:p.Trp486Arg", "hgvsWellDefined": "NP_009102.4:p.Trp486Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS696926" }, { "coordinates": [ { "allele": "C", "end": 1424, "referenceAllele": "T", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.2:n.1424T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704727" }, { "coordinates": [ { "allele": "C", "end": 1642, "referenceAllele": "T", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.2:n.1642T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704728" }, { "coordinates": [ { "allele": "C", "end": 1563, "referenceAllele": "T", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.2:n.1563T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704729" }, { "coordinates": [ { "allele": "C", "end": 1317, "referenceAllele": "T", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.2:n.1317T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704730" }, { "coordinates": [ { "allele": "C", "end": 1715, "referenceAllele": "T", "start": 1714 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.2:n.1715T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704731" }, { "coordinates": [ { "allele": "C", "end": 1349, "referenceAllele": "T", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.2:n.1349T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704732" }, { "coordinates": [ { "allele": "C", "end": 1474, "referenceAllele": "T", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.2:n.1474T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704733" }, { "coordinates": [ { "allele": "C", "end": 1429, "referenceAllele": "T", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.2:n.1429T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704734" }, { "coordinates": [ { "allele": "C", "end": 1955, "referenceAllele": "T", "start": 1954 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.2:n.1955T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704735" }, { "coordinates": [ { "allele": "C", "end": 1554, "referenceAllele": "T", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.2:n.1554T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704736" } ], "type": "nucleotide" }