{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16605449", "communityStandardTitle": [ "NM_201384.3(PLEC):c.4586G>A (p.Arg1529His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=370134[alleleid]", "alleleId": 370134, "preferredName": "NM_201384.3(PLEC):c.4586G>A (p.Arg1529His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379729", "RCV": [ "RCV000436465", "RCV001315527" ], "variationId": 379729 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.144999511C>T?assembly=hg19", "id": "chr8:g.144999511C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.143925343C>T?assembly=hg38", "id": "chr8:g.143925343C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520714", "rs": 1057520714 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-144999511-C-T?dataset=gnomad_r2_1", "id": "8-144999511-C-T", "variant": "8:144999511 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-143925343-C-T?dataset=gnomad_r3", "id": "8-143925343-C-T", "variant": "8:143925343 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-143925343-C-T?dataset=gnomad_r4", "id": "8-143925343-C-T", "variant": "8:143925343 C / T" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 143925343, "referenceAllele": "C", "start": 143925342 } ], "hgvs": [ "NC_000008.11:g.143925343C>T", "CM000670.2:g.143925343C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 144999511, "referenceAllele": "C", "start": 144999510 } ], "hgvs": [ "NC_000008.10:g.144999511C>T", "CM000670.1:g.144999511C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 145071499, "referenceAllele": "C", "start": 145071498 } ], "hgvs": [ "NC_000008.9:g.145071499C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 56403, "referenceAllele": "G", "start": 56402 } ], "hgvs": [ "NG_012492.1:g.56403G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002420" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4724, "referenceAllele": "G", "start": 4723 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000528025.6:c.4718G>A" ], "proteinEffect": { "hgvs": "ENSP00000437303.2:p.Arg1573His", "hgvsWellDefined": "ENSP00000437303.2:p.Arg1573His" }, "referenceSequence": "http://reg.genome.network/refseq/RS825747" }, { "coordinates": [ { "allele": "A", "end": 4679, "referenceAllele": "G", "start": 4678 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000685198.1:c.4637G>A" ], "proteinEffect": { "hgvs": "ENSP00000510528.1:p.Arg1546His", "hgvsWellDefined": "ENSP00000510528.1:p.Arg1546His" }, "referenceSequence": "http://reg.genome.network/refseq/RS829937" }, { "coordinates": [ { "allele": "A", "end": 4637, "referenceAllele": "G", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000687971.1:c.4304G>A" ], "proteinEffect": { "hgvs": "ENSP00000510788.1:p.Arg1435His", "hgvsWellDefined": "ENSP00000510788.1:p.Arg1435His" }, "referenceSequence": "http://reg.genome.network/refseq/RS831361" }, { "coordinates": [ { "allele": "A", "end": 4530, "referenceAllele": "G", "start": 4529 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000693060.1:c.4517G>A" ], "proteinEffect": { "hgvs": "ENSP00000510329.1:p.Arg1506His", "hgvsWellDefined": "ENSP00000510329.1:p.Arg1506His" }, "referenceSequence": "http://reg.genome.network/refseq/RS834042" }, { "coordinates": [ { "allele": "A", "end": 4722, "referenceAllele": "G", "start": 4721 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.8:c.4586G>A" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Arg1529His", "hgvsWellDefined": "ENSP00000344848.3:p.Arg1529His" }, "referenceSequence": "http://reg.genome.network/refseq/RS748278", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.4586G>A" }, "RefSeq": { "hgvs": "NM_201384.3:c.4586G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Arg1529His" }, "RefSeq": { "hgvs": "NP_958786.1:p.Arg1529His" } } } }, { "coordinates": [ { "allele": "A", "end": 4163, "endIntronDirection": "+", "endIntronOffset": 1441, "referenceAllele": "G", "start": 4163, "startIntronDirection": "+", "startIntronOffset": 1440 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527303.2:c.4125+1441G>A" ], "proteinEffect": { "hgvs": "ENSP00000433982.2:n.4125+1441G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS759013" }, { "coordinates": [ { "allele": "A", "end": 5167, "referenceAllele": "G", "start": 5166 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000322810.8:c.4997G>A" ], "proteinEffect": { "hgvs": "ENSP00000323856.4:p.Arg1666His", "hgvsWellDefined": "ENSP00000323856.4:p.Arg1666His" }, "referenceSequence": "http://reg.genome.network/refseq/RS258128" }, { "coordinates": [ { "allele": "A", "end": 4715, "referenceAllele": "G", "start": 4714 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.7:c.4586G>A" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Arg1529His", "hgvsWellDefined": "ENSP00000344848.3:p.Arg1529His" }, "referenceSequence": "http://reg.genome.network/refseq/RS262142" }, { "coordinates": [ { "allele": "A", "end": 4654, "referenceAllele": "G", "start": 4653 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354589.7:c.4586G>A" ], "proteinEffect": { "hgvs": "ENSP00000346602.3:p.Arg1529His", "hgvsWellDefined": "ENSP00000346602.3:p.Arg1529His" }, "referenceSequence": "http://reg.genome.network/refseq/RS263177" }, { "coordinates": [ { "allele": "A", "end": 4669, "referenceAllele": "G", "start": 4668 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354958.6:c.4520G>A" ], "proteinEffect": { "hgvs": "ENSP00000347044.2:p.Arg1507His", "hgvsWellDefined": "ENSP00000347044.2:p.Arg1507His" }, "referenceSequence": "http://reg.genome.network/refseq/RS263292" }, { "coordinates": [ { "allele": "A", "end": 4601, "referenceAllele": "G", "start": 4600 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000356346.7:c.4544G>A" ], "proteinEffect": { "hgvs": "ENSP00000348702.3:p.Arg1515His", "hgvsWellDefined": "ENSP00000348702.3:p.Arg1515His" }, "referenceSequence": "http://reg.genome.network/refseq/RS263729", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.4544G>A" }, "RefSeq": { "hgvs": "NM_201378.4:c.4544G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Arg1515His" }, "RefSeq": { "hgvs": "NP_958780.1:p.Arg1515His" } } } }, { "coordinates": [ { "allele": "A", "end": 4607, "referenceAllele": "G", "start": 4606 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000357649.6:c.4598G>A" ], "proteinEffect": { "hgvs": "ENSP00000350277.2:p.Arg1533His", "hgvsWellDefined": "ENSP00000350277.2:p.Arg1533His" }, "referenceSequence": "http://reg.genome.network/refseq/RS264188" }, { "coordinates": [ { "allele": "A", "end": 4564, "referenceAllele": "G", "start": 4563 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000398774.6:c.4490G>A" ], "proteinEffect": { "hgvs": "ENSP00000381756.2:p.Arg1497His", "hgvsWellDefined": "ENSP00000381756.2:p.Arg1497His" }, "referenceSequence": "http://reg.genome.network/refseq/RS278413" }, { "coordinates": [ { "allele": "A", "end": 4705, "referenceAllele": "G", "start": 4704 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000436759.6:c.4667G>A" ], "proteinEffect": { "hgvs": "ENSP00000388180.2:p.Arg1556His", "hgvsWellDefined": "ENSP00000388180.2:p.Arg1556His" }, "referenceSequence": "http://reg.genome.network/refseq/RS294136" }, { "coordinates": [ { "allele": "A", "end": 4655, "referenceAllele": "G", "start": 4654 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527096.5:c.4655G>A" ], "proteinEffect": { "hgvs": "ENSP00000434583.1:p.Arg1552His", "hgvsWellDefined": "ENSP00000434583.1:p.Arg1552His" }, "referenceSequence": "http://reg.genome.network/refseq/RS352857" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 1441, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 1440 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527303.1:c.134+1441G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353033" }, { "@id": "http://reg.genome.network/allele/PA2825173702", "coordinates": [ { "allele": "A", "end": 4716, "referenceAllele": "G", "start": 4715 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.4:c.4667G>A" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Arg1556His", "hgvsWellDefined": "NP_000436.2:p.Arg1556His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006507" }, { "@id": "http://reg.genome.network/allele/PA2830477073", "coordinates": [ { "allele": "A", "end": 4601, "referenceAllele": "G", "start": 4600 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.3:c.4544G>A" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Arg1515His", "hgvsWellDefined": "NP_958780.1:p.Arg1515His" }, "referenceSequence": "http://reg.genome.network/refseq/RS044996" }, { "@id": "http://reg.genome.network/allele/PA2830484111", "coordinates": [ { "allele": "A", "end": 4669, "referenceAllele": "G", "start": 4668 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.2:c.4520G>A" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Arg1507His", "hgvsWellDefined": "NP_958781.1:p.Arg1507His" }, "referenceSequence": "http://reg.genome.network/refseq/RS044997" }, { "@id": "http://reg.genome.network/allele/PA645458321", "coordinates": [ { "allele": "A", "end": 5167, "referenceAllele": "G", "start": 5166 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.3:c.4997G>A" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Arg1666His", "hgvsWellDefined": "NP_958782.1:p.Arg1666His" }, "referenceSequence": "http://reg.genome.network/refseq/RS044998" }, { "@id": "http://reg.genome.network/allele/PA2830491173", "coordinates": [ { "allele": "A", "end": 4564, "referenceAllele": "G", "start": 4563 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.2:c.4490G>A" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Arg1497His", "hgvsWellDefined": "NP_958783.1:p.Arg1497His" }, "referenceSequence": "http://reg.genome.network/refseq/RS044999" }, { "@id": "http://reg.genome.network/allele/PA2830495808", "coordinates": [ { "allele": "A", "end": 4654, "referenceAllele": "G", "start": 4653 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.3:c.4586G>A" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Arg1529His", "hgvsWellDefined": "NP_958784.1:p.Arg1529His" }, "referenceSequence": "http://reg.genome.network/refseq/RS045000" }, { "@id": "http://reg.genome.network/allele/PA2830500419", "coordinates": [ { "allele": "A", "end": 4607, "referenceAllele": "G", "start": 4606 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.2:c.4598G>A" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Arg1533His", "hgvsWellDefined": "NP_958785.1:p.Arg1533His" }, "referenceSequence": "http://reg.genome.network/refseq/RS045001" }, { "@id": "http://reg.genome.network/allele/PA2830505055", "coordinates": [ { "allele": "A", "end": 4715, "referenceAllele": "G", "start": 4714 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.2:c.4586G>A" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Arg1529His", "hgvsWellDefined": "NP_958786.1:p.Arg1529His" }, "referenceSequence": "http://reg.genome.network/refseq/RS045002" }, { "coordinates": [ { "allele": "A", "end": 5115, "referenceAllele": "G", "start": 5114 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.2:c.5012G>A" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Arg1671His", "hgvsWellDefined": "XP_005251033.1:p.Arg1671His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059371" }, { "coordinates": [ { "allele": "A", "end": 4715, "referenceAllele": "G", "start": 4714 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.2:c.4613G>A" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Arg1538His", "hgvsWellDefined": "XP_005251035.1:p.Arg1538His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059372" }, { "coordinates": [ { "allele": "A", "end": 4658, "referenceAllele": "G", "start": 4657 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.3:c.4601G>A" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Arg1534His", "hgvsWellDefined": "XP_005251036.1:p.Arg1534His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059373" }, { "coordinates": [ { "allele": "A", "end": 4748, "referenceAllele": "G", "start": 4747 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.3:c.4601G>A" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Arg1534His", "hgvsWellDefined": "XP_005251037.1:p.Arg1534His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059374" }, { "coordinates": [ { "allele": "A", "end": 4601, "referenceAllele": "G", "start": 4600 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.2:c.4559G>A" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Arg1520His", "hgvsWellDefined": "XP_005251038.1:p.Arg1520His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059375" }, { "coordinates": [ { "allele": "A", "end": 4600, "referenceAllele": "G", "start": 4599 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.2:c.4535G>A" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Arg1512His", "hgvsWellDefined": "XP_005251039.1:p.Arg1512His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059376" }, { "coordinates": [ { "allele": "A", "end": 4532, "referenceAllele": "G", "start": 4531 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250983.2:c.4517G>A" ], "proteinEffect": { "hgvs": "XP_005251040.1:p.Arg1506His", "hgvsWellDefined": "XP_005251040.1:p.Arg1506His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059377" }, { "coordinates": [ { "allele": "A", "end": 4591, "referenceAllele": "G", "start": 4590 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.3:c.4505G>A" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Arg1502His", "hgvsWellDefined": "XP_005251041.1:p.Arg1502His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059378" }, { "coordinates": [ { "allele": "A", "end": 4778, "referenceAllele": "G", "start": 4777 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.2:c.4682G>A" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Arg1561His", "hgvsWellDefined": "XP_006716651.1:p.Arg1561His" }, "referenceSequence": "http://reg.genome.network/refseq/RS071749" }, { "coordinates": [ { "allele": "A", "end": 4547, "referenceAllele": "G", "start": 4546 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716589.2:c.4532G>A" ], "proteinEffect": { "hgvs": "XP_006716652.1:p.Arg1511His", "hgvsWellDefined": "XP_006716652.1:p.Arg1511His" }, "referenceSequence": "http://reg.genome.network/refseq/RS071750" }, { "coordinates": [ { "allele": "A", "end": 4547, "referenceAllele": "G", "start": 4546 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.2:c.4532G>A" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Arg1511His", "hgvsWellDefined": "XP_006716653.1:p.Arg1511His" }, "referenceSequence": "http://reg.genome.network/refseq/RS071751" }, { "coordinates": [ { "allele": "A", "end": 4703, "referenceAllele": "G", "start": 4702 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.1:c.4601G>A" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Arg1534His", "hgvsWellDefined": "XP_011515432.1:p.Arg1534His" }, "referenceSequence": "http://reg.genome.network/refseq/RS084329" }, { "coordinates": [ { "allele": "A", "end": 4532, "referenceAllele": "G", "start": 4531 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.1:c.4517G>A" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Arg1506His", "hgvsWellDefined": "XP_011515433.1:p.Arg1506His" }, "referenceSequence": "http://reg.genome.network/refseq/RS084330" }, { "coordinates": [ { "allele": "A", "end": 4166, "endIntronDirection": "+", "endIntronOffset": 1441, "referenceAllele": "G", "start": 4166, "startIntronDirection": "+", "startIntronOffset": 1440 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.1:c.4071+1441G>A" ], "proteinEffect": { "hgvs": "XP_011515434.1:n.4071+1441G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS084331" }, { "coordinates": [ { "allele": "A", "end": 5208, "referenceAllele": "G", "start": 5207 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.4:c.5012G>A" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Arg1671His", "hgvsWellDefined": "XP_005251033.1:p.Arg1671His" }, "referenceSequence": "http://reg.genome.network/refseq/RS533529" }, { "coordinates": [ { "allele": "A", "end": 4734, "referenceAllele": "G", "start": 4733 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.3:c.4613G>A" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Arg1538His", "hgvsWellDefined": "XP_005251035.1:p.Arg1538His" }, "referenceSequence": "http://reg.genome.network/refseq/RS533530" }, { "coordinates": [ { "allele": "A", "end": 4693, "referenceAllele": "G", "start": 4692 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.4:c.4601G>A" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Arg1534His", "hgvsWellDefined": "XP_005251036.1:p.Arg1534His" }, "referenceSequence": "http://reg.genome.network/refseq/RS533531" }, { "coordinates": [ { "allele": "A", "end": 4778, "referenceAllele": "G", "start": 4777 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.4:c.4601G>A" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Arg1534His", "hgvsWellDefined": "XP_005251037.1:p.Arg1534His" }, "referenceSequence": "http://reg.genome.network/refseq/RS533532" }, { "coordinates": [ { "allele": "A", "end": 4615, "referenceAllele": "G", "start": 4614 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.3:c.4559G>A" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Arg1520His", "hgvsWellDefined": "XP_005251038.1:p.Arg1520His" }, "referenceSequence": "http://reg.genome.network/refseq/RS533533" }, { "coordinates": [ { "allele": "A", "end": 4604, "referenceAllele": "G", "start": 4603 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.4:c.4535G>A" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Arg1512His", "hgvsWellDefined": "XP_005251039.1:p.Arg1512His" }, "referenceSequence": "http://reg.genome.network/refseq/RS533534" }, { "coordinates": [ { "allele": "A", "end": 6012, "referenceAllele": "G", "start": 6011 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.5:c.4505G>A" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Arg1502His", "hgvsWellDefined": "XP_005251041.1:p.Arg1502His" }, "referenceSequence": "http://reg.genome.network/refseq/RS533535" }, { "coordinates": [ { "allele": "A", "end": 4786, "referenceAllele": "G", "start": 4785 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.3:c.4682G>A" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Arg1561His", "hgvsWellDefined": "XP_006716651.1:p.Arg1561His" }, "referenceSequence": "http://reg.genome.network/refseq/RS539204" }, { "coordinates": [ { "allele": "A", "end": 4657, "referenceAllele": "G", "start": 4656 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.3:c.4532G>A" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Arg1511His", "hgvsWellDefined": "XP_006716653.1:p.Arg1511His" }, "referenceSequence": "http://reg.genome.network/refseq/RS539205" }, { "coordinates": [ { "allele": "A", "end": 4722, "referenceAllele": "G", "start": 4721 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.2:c.4601G>A" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Arg1534His", "hgvsWellDefined": "XP_011515432.1:p.Arg1534His" }, "referenceSequence": "http://reg.genome.network/refseq/RS544424" }, { "coordinates": [ { "allele": "A", "end": 4641, "referenceAllele": "G", "start": 4640 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.2:c.4517G>A" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Arg1506His", "hgvsWellDefined": "XP_011515433.1:p.Arg1506His" }, "referenceSequence": "http://reg.genome.network/refseq/RS544425" }, { "coordinates": [ { "allele": "A", "end": 4188, "endIntronDirection": "+", "endIntronOffset": 1441, "referenceAllele": "G", "start": 4188, "startIntronDirection": "+", "startIntronOffset": 1440 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.2:c.4071+1441G>A" ], "proteinEffect": { "hgvs": "XP_011515434.1:n.4071+1441G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544426" }, { "@id": "http://reg.genome.network/allele/PA2825173702", "coordinates": [ { "allele": "A", "end": 4716, "referenceAllele": "G", "start": 4715 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.5:c.4667G>A" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Arg1556His", "hgvsWellDefined": "NP_000436.2:p.Arg1556His" }, "referenceSequence": "http://reg.genome.network/refseq/RS674849" }, { "@id": "http://reg.genome.network/allele/PA2830477073", "coordinates": [ { "allele": "A", "end": 4601, "referenceAllele": "G", "start": 4600 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.4:c.4544G>A" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Arg1515His", "hgvsWellDefined": "NP_958780.1:p.Arg1515His" }, "referenceSequence": "http://reg.genome.network/refseq/RS701531", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.4544G>A" }, "RefSeq": { "hgvs": "NM_201378.4:c.4544G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Arg1515His" }, "RefSeq": { "hgvs": "NP_958780.1:p.Arg1515His" } } } }, { "@id": "http://reg.genome.network/allele/PA2830484111", "coordinates": [ { "allele": "A", "end": 4583, "referenceAllele": "G", "start": 4582 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.3:c.4520G>A" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Arg1507His", "hgvsWellDefined": "NP_958781.1:p.Arg1507His" }, "referenceSequence": "http://reg.genome.network/refseq/RS701532" }, { "@id": "http://reg.genome.network/allele/PA645458321", "coordinates": [ { "allele": "A", "end": 5217, "referenceAllele": "G", "start": 5216 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.4:c.4997G>A" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Arg1666His", "hgvsWellDefined": "NP_958782.1:p.Arg1666His" }, "referenceSequence": "http://reg.genome.network/refseq/RS701533" }, { "@id": "http://reg.genome.network/allele/PA2830491173", "coordinates": [ { "allele": "A", "end": 4597, "referenceAllele": "G", "start": 4596 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.3:c.4490G>A" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Arg1497His", "hgvsWellDefined": "NP_958783.1:p.Arg1497His" }, "referenceSequence": "http://reg.genome.network/refseq/RS701534" }, { "@id": "http://reg.genome.network/allele/PA2830495808", "coordinates": [ { "allele": "A", "end": 4681, "referenceAllele": "G", "start": 4680 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.4:c.4586G>A" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Arg1529His", "hgvsWellDefined": "NP_958784.1:p.Arg1529His" }, "referenceSequence": "http://reg.genome.network/refseq/RS701535" }, { "@id": "http://reg.genome.network/allele/PA2830500419", "coordinates": [ { "allele": "A", "end": 4707, "referenceAllele": "G", "start": 4706 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.3:c.4598G>A" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Arg1533His", "hgvsWellDefined": "NP_958785.1:p.Arg1533His" }, "referenceSequence": "http://reg.genome.network/refseq/RS701536" }, { "@id": "http://reg.genome.network/allele/PA2830505055", "coordinates": [ { "allele": "A", "end": 4722, "referenceAllele": "G", "start": 4721 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.3:c.4586G>A" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Arg1529His", "hgvsWellDefined": "NP_958786.1:p.Arg1529His" }, "referenceSequence": "http://reg.genome.network/refseq/RS701537", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.4586G>A" }, "RefSeq": { "hgvs": "NM_201384.3:c.4586G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Arg1529His" }, "RefSeq": { "hgvs": "NP_958786.1:p.Arg1529His" } } } } ], "type": "nucleotide" }