{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4058835", "communityStandardTitle": [ "NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=895611[alleleid]", "alleleId": 895611, "preferredName": "NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/906834", "RCV": [ "RCV001156270", "RCV001156271", "RCV001859019", "RCV003142086" ], "variationId": 906834 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-152770691-C-T", "id": "6-152770691-C-T", "variant": "6:152770691 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.152770691C>T?assembly=hg19", "id": "chr6:g.152770691C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.152449556C>T?assembly=hg38", "id": "chr6:g.152449556C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/149415204", "rs": 149415204 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-152770691-C-T?dataset=gnomad_r2_1", "id": "6-152770691-C-T", "variant": "6:152770691 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-152449556-C-T?dataset=gnomad_r3", "id": "6-152449556-C-T", "variant": "6:152449556 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-152449556-C-T?dataset=gnomad_r4", "id": "6-152449556-C-T", "variant": "6:152449556 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 152449556, "referenceAllele": "C", "start": 152449555 } ], "hgvs": [ "NC_000006.12:g.152449556C>T", "CM000668.2:g.152449556C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 152770691, "referenceAllele": "C", "start": 152770690 } ], "hgvs": [ "NC_000006.11:g.152770691C>T", "CM000668.1:g.152770691C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 152812384, "referenceAllele": "C", "start": 152812383 } ], "hgvs": [ "NC_000006.10:g.152812384C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 192844, "referenceAllele": "G", "start": 192843 } ], "hgvs": [ "NG_012855.1:g.192844G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002586" }, { "coordinates": [ { "allele": "A", "end": 192844, "referenceAllele": "G", "start": 192843 } ], "hgvs": [ "NG_012855.2:g.192844G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673620" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4046, "referenceAllele": "G", "start": 4045 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367255.10:c.3481G>A" ], "proteinEffect": { "hgvs": "ENSP00000356224.5:p.Gly1161Arg", "hgvsWellDefined": "ENSP00000356224.5:p.Gly1161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS749966", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367255.10:c.3481G>A" }, "RefSeq": { "hgvs": "NM_182961.4:c.3481G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356224.5:p.Gly1161Arg" }, "RefSeq": { "hgvs": "NP_892006.3:p.Gly1161Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 3978, "referenceAllele": "G", "start": 3977 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000423061.6:c.3502G>A" ], "proteinEffect": { "hgvs": "ENSP00000396024.1:p.Gly1168Arg", "hgvsWellDefined": "ENSP00000396024.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS754959" }, { "coordinates": [ { "allele": "A", "end": 778, "referenceAllele": "G", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000671915.1:c.778G>A" ], "proteinEffect": { "hgvs": "ENSP00000500319.1:p.Gly260Arg", "hgvsWellDefined": "ENSP00000500319.1:p.Gly260Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773210" }, { "coordinates": [ { "allele": "A", "end": 3543, "referenceAllele": "G", "start": 3542 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000672122.1:c.3424G>A" ], "proteinEffect": { "hgvs": "ENSP00000500559.1:p.Gly1142Arg", "hgvsWellDefined": "ENSP00000500559.1:p.Gly1142Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773280" }, { "coordinates": [ { "allele": "A", "end": 4062, "referenceAllele": "G", "start": 4061 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000673163.1:c.*3451G>A" ], "proteinEffect": { "hgvs": "ENSP00000499934.1:n.*3451G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773599" }, { "coordinates": [ { "allele": "A", "end": 3660, "referenceAllele": "G", "start": 3659 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000673281.1:c.3475G>A" ], "proteinEffect": { "hgvs": "ENSP00000500893.1:p.Gly1159Arg", "hgvsWellDefined": "ENSP00000500893.1:p.Gly1159Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773639" }, { "coordinates": [ { "allele": "A", "end": 4281, "referenceAllele": "G", "start": 4280 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000341594.9:c.3628G>A" ], "proteinEffect": { "hgvs": "ENSP00000341887.6:p.Gly1210Arg", "hgvsWellDefined": "ENSP00000341887.6:p.Gly1210Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS261371" }, { "coordinates": [ { "allele": "A", "end": 3920, "referenceAllele": "G", "start": 3919 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367248.7:c.3451G>A" ], "proteinEffect": { "hgvs": "ENSP00000356217.3:p.Gly1151Arg", "hgvsWellDefined": "ENSP00000356217.3:p.Gly1151Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS266287" }, { "coordinates": [ { "allele": "A", "end": 3481, "referenceAllele": "G", "start": 3480 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367253.8:c.3481G>A" ], "proteinEffect": { "hgvs": "ENSP00000356222.4:p.Gly1161Arg", "hgvsWellDefined": "ENSP00000356222.4:p.Gly1161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS266290" }, { "coordinates": [ { "allele": "A", "end": 4083, "referenceAllele": "G", "start": 4082 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367255.9:c.3481G>A" ], "proteinEffect": { "hgvs": "ENSP00000356224.5:p.Gly1161Arg", "hgvsWellDefined": "ENSP00000356224.5:p.Gly1161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS266292" }, { "coordinates": [ { "allele": "A", "end": 3481, "referenceAllele": "G", "start": 3480 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000413186.6:c.3481G>A" ], "proteinEffect": { "hgvs": "ENSP00000414510.2:p.Gly1161Arg", "hgvsWellDefined": "ENSP00000414510.2:p.Gly1161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS282944" }, { "coordinates": [ { "allele": "A", "end": 3939, "referenceAllele": "G", "start": 3938 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000423061.5:c.3502G>A" ], "proteinEffect": { "hgvs": "ENSP00000396024.1:p.Gly1168Arg", "hgvsWellDefined": "ENSP00000396024.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS287575" }, { "coordinates": [ { "allele": "A", "end": 3699, "referenceAllele": "G", "start": 3698 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000461872.6:n.3699G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306284" }, { "@id": "http://reg.genome.network/allele/PA1139759740", "coordinates": [ { "allele": "A", "end": 3939, "referenceAllele": "G", "start": 3938 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_033071.3:c.3502G>A" ], "proteinEffect": { "hgvs": "NP_149062.1:p.Gly1168Arg", "hgvsWellDefined": "NP_149062.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS039509" }, { "@id": "http://reg.genome.network/allele/PA2830399922", "coordinates": [ { "allele": "A", "end": 4083, "referenceAllele": "G", "start": 4082 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_182961.3:c.3481G>A" ], "proteinEffect": { "hgvs": "NP_892006.3:p.Gly1161Arg", "hgvsWellDefined": "NP_892006.3:p.Gly1161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS044188" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715407.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715470.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715470.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071139" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715408.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715471.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715471.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071140" }, { "coordinates": [ { "allele": "A", "end": 3960, "referenceAllele": "G", "start": 3959 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715409.1:c.3481G>A" ], "proteinEffect": { "hgvs": "XP_006715472.1:p.Gly1161Arg", "hgvsWellDefined": "XP_006715472.1:p.Gly1161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071141" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715410.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715473.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715473.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071142" }, { "coordinates": [ { "allele": "A", "end": 3930, "referenceAllele": "G", "start": 3929 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715411.1:c.3451G>A" ], "proteinEffect": { "hgvs": "XP_006715474.1:p.Gly1151Arg", "hgvsWellDefined": "XP_006715474.1:p.Gly1151Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071143" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715412.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715475.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715475.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071144" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715413.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715476.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715476.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071145" }, { "coordinates": [ { "allele": "A", "end": 3909, "referenceAllele": "G", "start": 3908 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715414.1:c.3430G>A" ], "proteinEffect": { "hgvs": "XP_006715477.1:p.Gly1144Arg", "hgvsWellDefined": "XP_006715477.1:p.Gly1144Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071146" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715415.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715478.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715478.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071147" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715416.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715479.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715479.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071148" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715417.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715480.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715480.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071149" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715420.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715483.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715483.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071150" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715421.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715484.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715484.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071151" }, { "coordinates": [ { "allele": "A", "end": 3822, "referenceAllele": "G", "start": 3821 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715422.1:c.3343G>A" ], "proteinEffect": { "hgvs": "XP_006715485.1:p.Gly1115Arg", "hgvsWellDefined": "XP_006715485.1:p.Gly1115Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071152" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715423.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715486.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715486.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071153" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715424.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715487.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715487.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071154" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715425.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715488.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715488.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071155" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535641.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_011533943.1:p.Gly1168Arg", "hgvsWellDefined": "XP_011533943.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS102644" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535642.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_011533944.1:p.Gly1168Arg", "hgvsWellDefined": "XP_011533944.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS102645" }, { "coordinates": [ { "allele": "A", "end": 3816, "referenceAllele": "G", "start": 3815 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535643.1:c.3337G>A" ], "proteinEffect": { "hgvs": "XP_011533945.1:p.Gly1113Arg", "hgvsWellDefined": "XP_011533945.1:p.Gly1113Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS102646" }, { "coordinates": [ { "allele": "A", "end": 2032, "referenceAllele": "G", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535644.1:c.1777G>A" ], "proteinEffect": { "hgvs": "XP_011533946.1:p.Gly593Arg", "hgvsWellDefined": "XP_011533946.1:p.Gly593Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS102647" }, { "coordinates": [ { "allele": "A", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535645.1:c.1270G>A" ], "proteinEffect": { "hgvs": "XP_011533947.1:p.Gly424Arg", "hgvsWellDefined": "XP_011533947.1:p.Gly424Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS102648" }, { "coordinates": [ { "allele": "A", "end": 3981, "referenceAllele": "G", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535646.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_011533948.1:p.Gly1168Arg", "hgvsWellDefined": "XP_011533948.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS102649" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715408.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715471.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715471.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538922" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715410.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715473.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715473.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538923" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715412.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715475.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715475.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538924" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715413.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715476.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715476.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538925" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715415.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715478.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715478.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538926" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715416.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715479.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715479.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538927" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715417.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715480.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715480.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538928" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715420.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715483.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715483.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538929" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715421.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715484.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715484.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538930" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715423.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715486.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715486.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538931" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715424.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715487.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715487.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538932" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715425.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_006715488.1:p.Gly1168Arg", "hgvsWellDefined": "XP_006715488.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538933" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535641.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_011533943.1:p.Gly1168Arg", "hgvsWellDefined": "XP_011533943.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS552111" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535642.2:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_011533944.1:p.Gly1168Arg", "hgvsWellDefined": "XP_011533944.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS552112" }, { "coordinates": [ { "allele": "A", "end": 1425, "referenceAllele": "G", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535645.2:c.1270G>A" ], "proteinEffect": { "hgvs": "XP_011533947.1:p.Gly424Arg", "hgvsWellDefined": "XP_011533947.1:p.Gly424Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS552113" }, { "coordinates": [ { "allele": "A", "end": 4100, "referenceAllele": "G", "start": 4099 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010608.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_016866097.1:p.Gly1168Arg", "hgvsWellDefined": "XP_016866097.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS564629" }, { "coordinates": [ { "allele": "A", "end": 3907, "referenceAllele": "G", "start": 3906 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010609.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_016866098.1:p.Gly1168Arg", "hgvsWellDefined": "XP_016866098.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS564630" }, { "coordinates": [ { "allele": "A", "end": 3886, "referenceAllele": "G", "start": 3885 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010610.1:c.3481G>A" ], "proteinEffect": { "hgvs": "XP_016866099.1:p.Gly1161Arg", "hgvsWellDefined": "XP_016866099.1:p.Gly1161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS564631" }, { "coordinates": [ { "allele": "A", "end": 3744, "referenceAllele": "G", "start": 3743 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010611.2:c.3475G>A" ], "proteinEffect": { "hgvs": "XP_016866100.1:p.Gly1159Arg", "hgvsWellDefined": "XP_016866100.1:p.Gly1159Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS564632" }, { "coordinates": [ { "allele": "A", "end": 3613, "referenceAllele": "G", "start": 3612 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010612.1:c.3424G>A" ], "proteinEffect": { "hgvs": "XP_016866101.1:p.Gly1142Arg", "hgvsWellDefined": "XP_016866101.1:p.Gly1142Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS564633" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010613.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_016866102.1:p.Gly1168Arg", "hgvsWellDefined": "XP_016866102.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS564634" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010614.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_016866103.1:p.Gly1168Arg", "hgvsWellDefined": "XP_016866103.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS564635" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010615.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_016866104.1:p.Gly1168Arg", "hgvsWellDefined": "XP_016866104.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS564636" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010616.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_016866105.1:p.Gly1168Arg", "hgvsWellDefined": "XP_016866105.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS564637" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010617.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_016866106.1:p.Gly1168Arg", "hgvsWellDefined": "XP_016866106.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS564638" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010618.1:c.3502G>A" ], "proteinEffect": { "hgvs": "XP_016866107.1:p.Gly1168Arg", "hgvsWellDefined": "XP_016866107.1:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS564639" }, { "coordinates": [ { "allele": "A", "end": 2064, "referenceAllele": "G", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010619.1:c.1777G>A" ], "proteinEffect": { "hgvs": "XP_016866108.1:p.Gly593Arg", "hgvsWellDefined": "XP_016866108.1:p.Gly593Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS564640" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XR_001743287.1:n.3985G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592633" }, { "@id": "http://reg.genome.network/allele/PA2830399922", "coordinates": [ { "allele": "A", "end": 4046, "referenceAllele": "G", "start": 4045 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_182961.4:c.3481G>A" ], "proteinEffect": { "hgvs": "NP_892006.3:p.Gly1161Arg", "hgvsWellDefined": "NP_892006.3:p.Gly1161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS673038", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367255.10:c.3481G>A" }, "RefSeq": { "hgvs": "NM_182961.4:c.3481G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356224.5:p.Gly1161Arg" }, "RefSeq": { "hgvs": "NP_892006.3:p.Gly1161Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2573097268", "coordinates": [ { "allele": "A", "end": 3978, "referenceAllele": "G", "start": 3977 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_033071.5:c.3502G>A" ], "proteinEffect": { "hgvs": "NP_149062.2:p.Gly1168Arg", "hgvsWellDefined": "NP_149062.2:p.Gly1168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS728908" } ], "type": "nucleotide" }