{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5293174", "communityStandardTitle": [ "NM_001077365.2(POMT1):c.141T>C (p.Tyr47=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=585919[alleleid]", "alleleId": 585919, "preferredName": "NM_001077365.2(POMT1):c.141T>C (p.Tyr47=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/594857", "RCV": [ "RCV000730249", "RCV002060990" ], "variationId": 594857 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-134381519-T-C", "id": "9-134381519-T-C", "variant": "9:134381519 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.134381519T>C?assembly=hg19", "id": "chr9:g.134381519T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.131506132T>C?assembly=hg38", "id": "chr9:g.131506132T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/752941420", "rs": 752941420 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-134381519-T-C?dataset=gnomad_r2_1", "id": "9-134381519-T-C", "variant": "9:134381519 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-131506132-T-C?dataset=gnomad_r3", "id": "9-131506132-T-C", "variant": "9:131506132 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-131506132-T-C?dataset=gnomad_r4", "id": "9-131506132-T-C", "variant": "9:131506132 T / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 131506132, "referenceAllele": "T", "start": 131506131 } ], "hgvs": [ "NC_000009.12:g.131506132T>C", "CM000671.2:g.131506132T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 134381519, "referenceAllele": "T", "start": 134381518 } ], "hgvs": [ "NC_000009.11:g.134381519T>C", "CM000671.1:g.134381519T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 133371340, "referenceAllele": "T", "start": 133371339 } ], "hgvs": [ "NC_000009.10:g.133371340T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 8231, "referenceAllele": "T", "start": 8230 } ], "hgvs": [ "NG_008896.1:g.8231T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001288" }, { "coordinates": [ { "allele": "C", "end": 8231, "referenceAllele": "T", "start": 8230 } ], "hgvs": [ "NG_008896.2:g.8231T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS733319" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 198, "referenceAllele": "T", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.13:c.-22T>C" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS824001" }, { "coordinates": [ { "allele": "C", "end": 250, "referenceAllele": "T", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.7:n.250T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS824581" }, { "coordinates": [ { "allele": "C", "end": 141, "referenceAllele": "T", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.6:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000404119.2:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS824722" }, { "coordinates": [ { "allele": "C", "end": 525, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 525, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.2:c.*306-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000504346.2:n.*306-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS826930" }, { "coordinates": [ { "allele": "C", "end": 1231, "referenceAllele": "T", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.2:c.*324T>C" ], "proteinEffect": { "hgvs": "ENSP00000503157.2:n.*324T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS826933" }, { "coordinates": [ { "allele": "C", "end": 196, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 196, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678768.2:n.197-271T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS826936" }, { "coordinates": [ { "allele": "C", "end": 282, "endIntronDirection": "+", "endIntronOffset": 1792, "referenceAllele": "T", "start": 282, "startIntronDirection": "+", "startIntronOffset": 1791 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678942.2:c.122+1792T>C" ], "proteinEffect": { "hgvs": "ENSP00000504690.2:n.122+1792T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS826937" }, { "coordinates": [ { "allele": "C", "end": 338, "referenceAllele": "T", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682070.1:n.338T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827068" }, { "coordinates": [ { "allele": "C", "end": 143, "referenceAllele": "T", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682813.1:n.143T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827801" }, { "coordinates": [ { "allele": "C", "end": 119, "endIntronDirection": "-", "endIntronOffset": 2778, "referenceAllele": "T", "start": 119, "startIntronDirection": "-", "startIntronOffset": 2779 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683229.1:c.-29-2779T>C" ], "proteinEffect": { "hgvs": "ENSP00000506964.1:n.-29-2779T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS828211" }, { "coordinates": [ { "allele": "C", "end": 315, "referenceAllele": "T", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683392.1:n.315T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828371" }, { "coordinates": [ { "allele": "C", "end": 77, "referenceAllele": "T", "start": 76 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683615.1:c.-22T>C" ], "proteinEffect": { "hgvs": "ENSP00000506831.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS828587" }, { "coordinates": [ { "allele": "C", "end": 278, "referenceAllele": "T", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683712.1:n.278T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828683" }, { "coordinates": [ { "allele": "C", "end": 1135, "referenceAllele": "T", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683900.1:n.1135T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828866" }, { "coordinates": [ { "allele": "C", "end": 323, "referenceAllele": "T", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684579.1:n.323T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829531" }, { "coordinates": [ { "allele": "C", "end": 177, "referenceAllele": "T", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.12:c.-22T>C" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS747952" }, { "coordinates": [ { "allele": "C", "end": 124, "endIntronDirection": "+", "endIntronOffset": 3059, "referenceAllele": "T", "start": 124, "startIntronDirection": "+", "startIntronOffset": 3058 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372220.5:c.-146+3059T>C" ], "proteinEffect": { "hgvs": "ENSP00000361294.5:n.-146+3059T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS750959" }, { "coordinates": [ { "allele": "C", "end": 456, "referenceAllele": "T", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.9:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS750961" }, { "coordinates": [ { "allele": "C", "end": 327, "referenceAllele": "T", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.8:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000385797.4:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS754017", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.141T>C" }, "RefSeq": { "hgvs": "NM_001077365.2:c.141T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Tyr47=" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Tyr47=" } } } }, { "coordinates": [ { "allele": "C", "end": 255, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 255, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000415075.6:c.123-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000405149.2:n.123-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS754596" }, { "coordinates": [ { "allele": "C", "end": 259, "endIntronDirection": "-", "endIntronOffset": 50, "referenceAllele": "T", "start": 259, "startIntronDirection": "-", "startIntronOffset": 51 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000418774.6:c.123-51T>C" ], "proteinEffect": { "hgvs": "ENSP00000390737.2:n.123-51T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS754762" }, { "coordinates": [ { "allele": "C", "end": 99, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 99, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000430619.2:c.-80-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000402083.2:n.-80-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS755329" }, { "coordinates": [ { "allele": "C", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000483472.2:n.109T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS757440" }, { "coordinates": [ { "allele": "C", "end": 579, "referenceAllele": "T", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676640.1:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000503281.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776317" }, { "coordinates": [ { "allele": "C", "end": 130, "endIntronDirection": "+", "endIntronOffset": 3059, "referenceAllele": "T", "start": 130, "startIntronDirection": "+", "startIntronOffset": 3058 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676803.1:c.-127+3059T>C" ], "proteinEffect": { "hgvs": "ENSP00000503093.1:n.-127+3059T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776475" }, { "coordinates": [ { "allele": "C", "end": 119, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 119, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676835.1:c.-122-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000502911.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776507" }, { "coordinates": [ { "allele": "C", "end": 301, "referenceAllele": "T", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676915.1:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000504628.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776586" }, { "coordinates": [ { "allele": "C", "end": 97, "referenceAllele": "T", "start": 96 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677028.1:c.-22T>C" ], "proteinEffect": { "hgvs": "ENSP00000503896.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776697" }, { "coordinates": [ { "allele": "C", "end": 154, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 154, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677029.1:c.-80-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000502936.1:n.-80-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776698" }, { "coordinates": [ { "allele": "C", "end": 214, "endIntronDirection": "-", "endIntronOffset": 1235, "referenceAllele": "T", "start": 214, "startIntronDirection": "-", "startIntronOffset": 1236 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677099.1:c.123-1236T>C" ], "proteinEffect": { "hgvs": "ENSP00000504553.1:n.123-1236T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776765" }, { "coordinates": [ { "allele": "C", "end": 221, "referenceAllele": "T", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677167.1:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000503307.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776832" }, { "coordinates": [ { "allele": "C", "end": 176, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 176, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677216.1:c.-122-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000503772.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776879" }, { "coordinates": [ { "allele": "C", "end": 129, "endIntronDirection": "+", "endIntronOffset": 3059, "referenceAllele": "T", "start": 129, "startIntronDirection": "+", "startIntronOffset": 3058 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677293.1:c.-30+3059T>C" ], "proteinEffect": { "hgvs": "ENSP00000504278.1:n.-30+3059T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776956" }, { "coordinates": [ { "allele": "C", "end": 338, "referenceAllele": "T", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.1:c.-22T>C" ], "proteinEffect": { "hgvs": "ENSP00000504346.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776958" }, { "coordinates": [ { "allele": "C", "end": 129, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 129, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677586.1:n.130-271T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777245" }, { "coordinates": [ { "allele": "C", "end": 145, "referenceAllele": "T", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677626.1:c.-22T>C" ], "proteinEffect": { "hgvs": "ENSP00000503552.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS777284" }, { "coordinates": [ { "allele": "C", "end": 101, "referenceAllele": "T", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677677.1:n.101T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777335" }, { "coordinates": [ { "allele": "C", "end": 325, "referenceAllele": "T", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677729.1:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000503581.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777385" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "T", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677853.1:c.-22T>C" ], "proteinEffect": { "hgvs": "ENSP00000503488.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS777505" }, { "coordinates": [ { "allele": "C", "end": 278, "referenceAllele": "T", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.1:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000503157.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777912" }, { "coordinates": [ { "allele": "C", "end": 278, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 278, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678303.1:c.123-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000503696.1:n.123-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS777951" }, { "coordinates": [ { "allele": "C", "end": 788, "referenceAllele": "T", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678366.1:c.*324T>C" ], "proteinEffect": { "hgvs": "ENSP00000504353.1:n.*324T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778013" }, { "coordinates": [ { "allele": "C", "end": 138, "referenceAllele": "T", "start": 137 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678546.1:c.-22T>C" ], "proteinEffect": { "hgvs": "ENSP00000503062.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778187" }, { "coordinates": [ { "allele": "C", "end": 290, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 290, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678548.1:c.123-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000503934.1:n.123-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778189" }, { "coordinates": [ { "allele": "C", "end": 68, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 68, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678626.1:n.69-271T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS778266" }, { "coordinates": [ { "allele": "C", "end": 126, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 126, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678707.1:n.127-271T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS778346" }, { "coordinates": [ { "allele": "C", "end": 490, "referenceAllele": "T", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678739.1:c.*199T>C" ], "proteinEffect": { "hgvs": "ENSP00000503806.1:n.*199T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778378" }, { "coordinates": [ { "allele": "C", "end": 194, "referenceAllele": "T", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678785.1:c.-22T>C" ], "proteinEffect": { "hgvs": "ENSP00000504231.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778423" }, { "coordinates": [ { "allele": "C", "end": 315, "referenceAllele": "T", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678833.1:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000503893.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778471" }, { "coordinates": [ { "allele": "C", "end": 149, "referenceAllele": "T", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679023.1:c.-22T>C" ], "proteinEffect": { "hgvs": "ENSP00000503718.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778658" }, { "coordinates": [ { "allele": "C", "end": 301, "referenceAllele": "T", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679111.1:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000504257.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778746" }, { "coordinates": [ { "allele": "C", "end": 58, "endIntronDirection": "-", "endIntronOffset": 1235, "referenceAllele": "T", "start": 58, "startIntronDirection": "-", "startIntronOffset": 1236 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679189.1:c.-71-1236T>C" ], "proteinEffect": { "hgvs": "ENSP00000503356.1:n.-71-1236T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778824" }, { "coordinates": [ { "allele": "C", "end": 250, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 250, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679221.1:c.-122-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000504422.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778855" }, { "coordinates": [ { "allele": "C", "end": 175, "referenceAllele": "T", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.11:c.-22T>C" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS261233" }, { "coordinates": [ { "allele": "C", "end": 320, "referenceAllele": "T", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.7:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS268987" }, { "coordinates": [ { "allele": "C", "end": 301, "referenceAllele": "T", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.7:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000385797.3:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS279592" }, { "coordinates": [ { "allele": "C", "end": 172, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 172, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.6:c.-122-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000384531.2:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS280183" }, { "coordinates": [ { "allele": "C", "end": 255, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 255, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000415075.5:c.-122-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000405149.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS283826" }, { "coordinates": [ { "allele": "C", "end": 526, "referenceAllele": "T", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000418774.5:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000390737.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS285564" }, { "coordinates": [ { "allele": "C", "end": 583, "referenceAllele": "T", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.5:c.141T>C" ], "proteinEffect": { "hgvs": "ENSP00000404119.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS287545" }, { "coordinates": [ { "allele": "C", "end": 65, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 65, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000430619.1:c.-122-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000402083.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS291235" }, { "coordinates": [ { "allele": "C", "end": 156, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 156, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000441334.5:c.-122-271T>C" ], "proteinEffect": { "hgvs": "ENSP00000395060.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS296347" }, { "coordinates": [ { "allele": "C", "end": 115, "referenceAllele": "T", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000448212.5:c.-22T>C" ], "proteinEffect": { "hgvs": "ENSP00000403736.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS299621" }, { "coordinates": [ { "allele": "C", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000483472.1:n.109T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS322933" }, { "@id": "http://reg.genome.network/allele/PA2825445052", "coordinates": [ { "allele": "C", "end": 343, "referenceAllele": "T", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.1:c.141T>C" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS009962" }, { "coordinates": [ { "allele": "C", "end": 191, "referenceAllele": "T", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.1:c.-22T>C" ], "proteinEffect": { "hgvs": "NP_001070834.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS009963" }, { "@id": "http://reg.genome.network/allele/PA2825815147", "coordinates": [ { "allele": "C", "end": 583, "referenceAllele": "T", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.1:c.141T>C" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012602" }, { "coordinates": [ { "allele": "C", "end": 172, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 172, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.1:c.-122-271T>C" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS012603" }, { "coordinates": [ { "allele": "C", "end": 343, "referenceAllele": "T", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.3:c.141T>C" ], "proteinEffect": { "hgvs": "NP_009102.3:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS032102" }, { "coordinates": [ { "allele": "C", "end": 469, "referenceAllele": "T", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272156.1:c.141T>C" ], "proteinEffect": { "hgvs": "XP_005272213.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS067159" }, { "coordinates": [ { "allele": "C", "end": 198, "referenceAllele": "T", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272158.1:c.-22T>C" ], "proteinEffect": { "hgvs": "XP_005272215.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS067160" }, { "coordinates": [ { "allele": "C", "end": 176, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 176, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272159.1:c.-122-271T>C" ], "proteinEffect": { "hgvs": "XP_005272216.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS067161" }, { "coordinates": [ { "allele": "C", "end": 271, "referenceAllele": "T", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.1:c.-1259T>C" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-1259T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS067162" }, { "coordinates": [ { "allele": "C", "end": 209, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 209, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.1:c.-122-271T>C" ], "proteinEffect": { "hgvs": "XP_006716995.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS071906" }, { "coordinates": [ { "allele": "C", "end": 343, "referenceAllele": "T", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.1:c.141T>C" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS085316" }, { "coordinates": [ { "allele": "C", "end": 343, "referenceAllele": "T", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.1:c.141T>C" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS085317" }, { "coordinates": [ { "allele": "C", "end": 145, "referenceAllele": "T", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.1:c.-22T>C" ], "proteinEffect": { "hgvs": "XP_011516444.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085318" }, { "coordinates": [ { "allele": "C", "end": 324, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 324, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.1:c.123-271T>C" ], "proteinEffect": { "hgvs": "XP_011516445.1:n.123-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085319" }, { "coordinates": [ { "allele": "C", "end": 317, "referenceAllele": "T", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518144.1:c.141T>C" ], "proteinEffect": { "hgvs": "XP_011516446.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS085320" }, { "coordinates": [ { "allele": "C", "end": 99, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 99, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.1:c.-80-271T>C" ], "proteinEffect": { "hgvs": "XP_011516447.1:n.-80-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085321" }, { "coordinates": [ { "allele": "C", "end": 324, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 324, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518146.1:c.123-271T>C" ], "proteinEffect": { "hgvs": "XP_011516448.1:n.123-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085322" }, { "coordinates": [ { "allele": "C", "end": 317, "referenceAllele": "T", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_929703.1:n.317T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125832" }, { "coordinates": [ { "allele": "C", "end": 583, "referenceAllele": "T", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.1:c.141T>C" ], "proteinEffect": { "hgvs": "NP_001340122.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS521539" }, { "coordinates": [ { "allele": "C", "end": 431, "referenceAllele": "T", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.1:c.-22T>C" ], "proteinEffect": { "hgvs": "NP_001340123.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521540" }, { "coordinates": [ { "allele": "C", "end": 324, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 324, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.1:c.-122-271T>C" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521541" }, { "coordinates": [ { "allele": "C", "end": 324, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 324, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.1:c.123-271T>C" ], "proteinEffect": { "hgvs": "NP_001340125.1:n.123-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521542" }, { "coordinates": [ { "allele": "C", "end": 191, "referenceAllele": "T", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.1:c.-22T>C" ], "proteinEffect": { "hgvs": "NP_001340126.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521543" }, { "coordinates": [ { "allele": "C", "end": 892, "referenceAllele": "T", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.1:c.-22T>C" ], "proteinEffect": { "hgvs": "NP_001340127.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521544" }, { "coordinates": [ { "allele": "C", "end": 172, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 172, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.1:c.-122-271T>C" ], "proteinEffect": { "hgvs": "NP_001340128.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521545" }, { "coordinates": [ { "allele": "C", "end": 172, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 172, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.1:c.-80-271T>C" ], "proteinEffect": { "hgvs": "NP_001340129.1:n.-80-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521546" }, { "coordinates": [ { "allele": "C", "end": 191, "referenceAllele": "T", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.1:n.191T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531129" }, { "coordinates": [ { "allele": "C", "end": 343, "referenceAllele": "T", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.1:n.343T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531130" }, { "coordinates": [ { "allele": "C", "end": 191, "referenceAllele": "T", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.1:n.191T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531131" }, { "coordinates": [ { "allele": "C", "end": 191, "referenceAllele": "T", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.1:n.191T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531132" }, { "coordinates": [ { "allele": "C", "end": 343, "referenceAllele": "T", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.1:n.343T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531133" }, { "coordinates": [ { "allele": "C", "end": 172, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 172, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.1:n.173-271T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531134" }, { "coordinates": [ { "allele": "C", "end": 324, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 324, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.1:n.325-271T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531135" }, { "coordinates": [ { "allele": "C", "end": 191, "referenceAllele": "T", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.1:n.191T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531136" }, { "coordinates": [ { "allele": "C", "end": 583, "referenceAllele": "T", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.1:n.583T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531137" }, { "coordinates": [ { "allele": "C", "end": 412, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 412, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.1:n.413-271T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531138" }, { "coordinates": [ { "allele": "C", "end": 309, "referenceAllele": "T", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.3:c.-1259T>C" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-1259T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS537254" }, { "coordinates": [ { "allele": "C", "end": 209, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 209, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.2:c.-122-271T>C" ], "proteinEffect": { "hgvs": "XP_006716995.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS539284" }, { "coordinates": [ { "allele": "C", "end": 343, "referenceAllele": "T", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.2:c.141T>C" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS544786" }, { "coordinates": [ { "allele": "C", "end": 343, "referenceAllele": "T", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.2:c.141T>C" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS544787" }, { "coordinates": [ { "allele": "C", "end": 145, "referenceAllele": "T", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.2:c.-22T>C" ], "proteinEffect": { "hgvs": "XP_011516444.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS544788" }, { "coordinates": [ { "allele": "C", "end": 324, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 324, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.2:c.123-271T>C" ], "proteinEffect": { "hgvs": "XP_011516445.1:n.123-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS544789" }, { "coordinates": [ { "allele": "C", "end": 99, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 99, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.2:c.-80-271T>C" ], "proteinEffect": { "hgvs": "XP_011516447.1:n.-80-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS544790" }, { "coordinates": [ { "allele": "C", "end": 265, "referenceAllele": "T", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_017014205.2:c.-1062T>C" ], "proteinEffect": { "hgvs": "XP_016869694.1:n.-1062T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS567232" }, { "coordinates": [ { "allele": "C", "end": 149, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 149, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447380.1:c.-760-271T>C" ], "proteinEffect": { "hgvs": "XP_024303148.1:n.-760-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS580963" }, { "coordinates": [ { "allele": "C", "end": 149, "referenceAllele": "T", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447381.1:c.-948T>C" ], "proteinEffect": { "hgvs": "XP_024303149.1:n.-948T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS580964" }, { "coordinates": [ { "allele": "C", "end": 311, "referenceAllele": "T", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447382.1:c.-2655T>C" ], "proteinEffect": { "hgvs": "XP_024303150.1:n.-2655T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS580965" }, { "coordinates": [ { "allele": "C", "end": 311, "referenceAllele": "T", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746160.2:n.311T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594520" }, { "coordinates": [ { "allele": "C", "end": 311, "referenceAllele": "T", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746162.2:n.311T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594521" }, { "coordinates": [ { "allele": "C", "end": 324, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 324, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746164.1:n.325-271T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594522" }, { "coordinates": [ { "allele": "C", "end": 265, "referenceAllele": "T", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746166.2:n.265T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594523" }, { "@id": "http://reg.genome.network/allele/PA2825445052", "coordinates": [ { "allele": "C", "end": 327, "referenceAllele": "T", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.2:c.141T>C" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676149", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.141T>C" }, "RefSeq": { "hgvs": "NM_001077365.2:c.141T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Tyr47=" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Tyr47=" } } } }, { "coordinates": [ { "allele": "C", "end": 175, "referenceAllele": "T", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.2:c.-22T>C" ], "proteinEffect": { "hgvs": "NP_001070834.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS676150" }, { "@id": "http://reg.genome.network/allele/PA2825815147", "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "T", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.2:c.141T>C" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS677395" }, { "coordinates": [ { "allele": "C", "end": 156, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 156, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.2:c.-122-271T>C" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS677396" }, { "@id": "http://reg.genome.network/allele/PA2827712778", "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "T", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.2:c.141T>C" ], "proteinEffect": { "hgvs": "NP_001340122.2:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS689628" }, { "coordinates": [ { "allele": "C", "end": 415, "referenceAllele": "T", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.2:c.-22T>C" ], "proteinEffect": { "hgvs": "NP_001340123.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689629" }, { "coordinates": [ { "allele": "C", "end": 308, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 308, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.2:c.-122-271T>C" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689630" }, { "coordinates": [ { "allele": "C", "end": 308, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 308, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.2:c.123-271T>C" ], "proteinEffect": { "hgvs": "NP_001340125.1:n.123-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689631" }, { "coordinates": [ { "allele": "C", "end": 175, "referenceAllele": "T", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.2:c.-22T>C" ], "proteinEffect": { "hgvs": "NP_001340126.2:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689632" }, { "coordinates": [ { "allele": "C", "end": 876, "referenceAllele": "T", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.2:c.-22T>C" ], "proteinEffect": { "hgvs": "NP_001340127.2:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689633" }, { "coordinates": [ { "allele": "C", "end": 156, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 156, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.2:c.-122-271T>C" ], "proteinEffect": { "hgvs": "NP_001340128.2:n.-122-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689634" }, { "coordinates": [ { "allele": "C", "end": 156, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 156, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.2:c.-80-271T>C" ], "proteinEffect": { "hgvs": "NP_001340129.1:n.-80-271T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689635" }, { "coordinates": [ { "allele": "C", "end": 175, "referenceAllele": "T", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374689.1:c.-22T>C" ], "proteinEffect": { "hgvs": "NP_001361618.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS693346" }, { "@id": "http://reg.genome.network/allele/PA2828536150", "coordinates": [ { "allele": "C", "end": 327, "referenceAllele": "T", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374690.1:c.141T>C" ], "proteinEffect": { "hgvs": "NP_001361619.1:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693347" }, { "coordinates": [ { "allele": "C", "end": 396, "endIntronDirection": "-", "endIntronOffset": 1235, "referenceAllele": "T", "start": 396, "startIntronDirection": "-", "startIntronOffset": 1236 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374691.1:c.-71-1236T>C" ], "proteinEffect": { "hgvs": "NP_001361620.1:n.-71-1236T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS693348" }, { "coordinates": [ { "allele": "C", "end": 308, "endIntronDirection": "-", "endIntronOffset": 1235, "referenceAllele": "T", "start": 308, "startIntronDirection": "-", "startIntronOffset": 1236 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374692.1:c.-71-1236T>C" ], "proteinEffect": { "hgvs": "NP_001361621.1:n.-71-1236T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS693349" }, { "coordinates": [ { "allele": "C", "end": 175, "referenceAllele": "T", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374693.1:c.-22T>C" ], "proteinEffect": { "hgvs": "NP_001361622.1:n.-22T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS693350" }, { "coordinates": [ { "allele": "C", "end": 308, "endIntronDirection": "+", "endIntronOffset": 1792, "referenceAllele": "T", "start": 308, "startIntronDirection": "+", "startIntronOffset": 1791 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374695.1:c.-30+1792T>C" ], "proteinEffect": { "hgvs": "NP_001361624.1:n.-30+1792T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS693351" }, { "@id": "http://reg.genome.network/allele/PA2829694303", "coordinates": [ { "allele": "C", "end": 327, "referenceAllele": "T", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.4:c.141T>C" ], "proteinEffect": { "hgvs": "NP_009102.4:p.Tyr47=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696926" }, { "coordinates": [ { "allele": "C", "end": 175, "referenceAllele": "T", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.2:n.175T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704727" }, { "coordinates": [ { "allele": "C", "end": 327, "referenceAllele": "T", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.2:n.327T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704728" }, { "coordinates": [ { "allele": "C", "end": 175, "referenceAllele": "T", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.2:n.175T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704729" }, { "coordinates": [ { "allele": "C", "end": 175, "referenceAllele": "T", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.2:n.175T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704730" }, { "coordinates": [ { "allele": "C", "end": 327, "referenceAllele": "T", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.2:n.327T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704731" }, { "coordinates": [ { "allele": "C", "end": 156, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 156, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.2:n.157-271T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704732" }, { "coordinates": [ { "allele": "C", "end": 308, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 308, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.2:n.309-271T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704733" }, { "coordinates": [ { "allele": "C", "end": 175, "referenceAllele": "T", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.2:n.175T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704734" }, { "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "T", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.2:n.567T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704735" }, { "coordinates": [ { "allele": "C", "end": 396, "endIntronDirection": "-", "endIntronOffset": 270, "referenceAllele": "T", "start": 396, "startIntronDirection": "-", "startIntronOffset": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.2:n.397-271T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704736" } ], "type": "nucleotide" }