{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1534136", "communityStandardTitle": [ "NM_001349206.2(LPIN1):c.2579A>G (p.Lys860Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3284185[alleleid]", "alleleId": 3284185, "preferredName": "NM_001349206.2(LPIN1):c.2579A>G (p.Lys860Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3119759", "RCV": [ "RCV004410582" ], "variationId": 3119759 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-11960598-A-G", "id": "2-11960598-A-G", "variant": "2:11960598 A / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.11960598A>G?assembly=hg19", "id": "chr2:g.11960598A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.11820472A>G?assembly=hg38", "id": "chr2:g.11820472A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/757356725", "rs": 757356725 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-11960598-A-G?dataset=gnomad_r2_1", "id": "2-11960598-A-G", "variant": "2:11960598 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-11820472-A-G?dataset=gnomad_r4", "id": "2-11820472-A-G", "variant": "2:11820472 A / G" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 11820472, "referenceAllele": "A", "start": 11820471 } ], "hgvs": [ "NC_000002.12:g.11820472A>G", "CM000664.2:g.11820472A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 11960598, "referenceAllele": "A", "start": 11960597 } ], "hgvs": [ "NC_000002.11:g.11960598A>G", "CM000664.1:g.11960598A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 11878049, "referenceAllele": "A", "start": 11878048 } ], "hgvs": [ "NC_000002.10:g.11878049A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "G", "end": 147894, "referenceAllele": "A", "start": 147893 } ], "hgvs": [ "NG_012843.2:g.147894A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002576" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2628, "referenceAllele": "A", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "ENST00000674199.1:c.2579A>G" ], "proteinEffect": { "hgvs": "ENSP00000501331.1:p.Lys860Arg", "hgvsWellDefined": "ENSP00000501331.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS774209", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674199.1:c.2579A>G" }, "RefSeq": { "hgvs": "NM_001349206.2:c.2579A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501331.1:p.Lys860Arg" }, "RefSeq": { "hgvs": "NP_001336135.1:p.Lys860Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 2564, "referenceAllele": "A", "start": 2563 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "ENST00000256720.6:c.2471A>G" ], "proteinEffect": { "hgvs": "ENSP00000256720.2:p.Lys824Arg", "hgvsWellDefined": "ENSP00000256720.2:p.Lys824Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS250211" }, { "coordinates": [ { "allele": "G", "end": 2874, "referenceAllele": "A", "start": 2873 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "ENST00000396097.5:c.2597A>G" ], "proteinEffect": { "hgvs": "ENSP00000379404.2:p.Lys866Arg", "hgvsWellDefined": "ENSP00000379404.2:p.Lys866Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS277094" }, { "coordinates": [ { "allele": "G", "end": 2954, "referenceAllele": "A", "start": 2953 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "ENST00000396099.5:c.*486A>G" ], "proteinEffect": { "hgvs": "ENSP00000379406.2:n.*486A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS277096" }, { "coordinates": [ { "allele": "G", "end": 2064, "referenceAllele": "A", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "ENST00000404113.6:n.2064A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS279985" }, { "coordinates": [ { "allele": "G", "end": 2766, "referenceAllele": "A", "start": 2765 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "ENST00000425416.6:c.2489A>G" ], "proteinEffect": { "hgvs": "ENSP00000401522.2:p.Lys830Arg", "hgvsWellDefined": "ENSP00000401522.2:p.Lys830Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS288748" }, { "coordinates": [ { "allele": "G", "end": 2779, "referenceAllele": "A", "start": 2778 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "ENST00000449576.6:c.2726A>G" ], "proteinEffect": { "hgvs": "ENSP00000397908.2:p.Lys909Arg", "hgvsWellDefined": "ENSP00000397908.2:p.Lys909Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS300286" }, { "coordinates": [ { "allele": "G", "end": 3508, "referenceAllele": "A", "start": 3507 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "ENST00000475922.1:n.3508A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS317102" }, { "@id": "http://reg.genome.network/allele/PA2826482297", "coordinates": [ { "allele": "G", "end": 2766, "referenceAllele": "A", "start": 2765 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001261427.1:c.2489A>G" ], "proteinEffect": { "hgvs": "NP_001248356.1:p.Lys830Arg", "hgvsWellDefined": "NP_001248356.1:p.Lys830Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS019968" }, { "@id": "http://reg.genome.network/allele/PA2826482504", "coordinates": [ { "allele": "G", "end": 2795, "referenceAllele": "A", "start": 2794 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001261428.1:c.2726A>G" ], "proteinEffect": { "hgvs": "NP_001248357.1:p.Lys909Arg", "hgvsWellDefined": "NP_001248357.1:p.Lys909Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS019969" }, { "@id": "http://reg.genome.network/allele/PA2830291706", "coordinates": [ { "allele": "G", "end": 2556, "referenceAllele": "A", "start": 2555 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_145693.2:c.2471A>G" ], "proteinEffect": { "hgvs": "NP_663731.1:p.Lys824Arg", "hgvsWellDefined": "NP_663731.1:p.Lys824Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS041506" }, { "coordinates": [ { "allele": "G", "end": 2721, "referenceAllele": "A", "start": 2720 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_006711869.1:c.2618A>G" ], "proteinEffect": { "hgvs": "XP_006711932.1:p.Lys873Arg", "hgvsWellDefined": "XP_006711932.1:p.Lys873Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS069337" }, { "coordinates": [ { "allele": "G", "end": 2961, "referenceAllele": "A", "start": 2960 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_006711870.2:c.2597A>G" ], "proteinEffect": { "hgvs": "XP_006711933.1:p.Lys866Arg", "hgvsWellDefined": "XP_006711933.1:p.Lys866Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS069338" }, { "coordinates": [ { "allele": "G", "end": 2664, "referenceAllele": "A", "start": 2663 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_006711871.1:c.2579A>G" ], "proteinEffect": { "hgvs": "XP_006711934.1:p.Lys860Arg", "hgvsWellDefined": "XP_006711934.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS069339" }, { "coordinates": [ { "allele": "G", "end": 2888, "referenceAllele": "A", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_006711872.1:c.2579A>G" ], "proteinEffect": { "hgvs": "XP_006711935.1:p.Lys860Arg", "hgvsWellDefined": "XP_006711935.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS069340" }, { "coordinates": [ { "allele": "G", "end": 2852, "referenceAllele": "A", "start": 2851 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_006711874.1:c.2579A>G" ], "proteinEffect": { "hgvs": "XP_006711937.1:p.Lys860Arg", "hgvsWellDefined": "XP_006711937.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS069341" }, { "coordinates": [ { "allele": "G", "end": 2826, "referenceAllele": "A", "start": 2825 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_011510333.1:c.2723A>G" ], "proteinEffect": { "hgvs": "XP_011508635.1:p.Lys908Arg", "hgvsWellDefined": "XP_011508635.1:p.Lys908Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS077598" }, { "coordinates": [ { "allele": "G", "end": 2866, "referenceAllele": "A", "start": 2865 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_011510334.1:c.2597A>G" ], "proteinEffect": { "hgvs": "XP_011508636.1:p.Lys866Arg", "hgvsWellDefined": "XP_011508636.1:p.Lys866Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS077599" }, { "coordinates": [ { "allele": "G", "end": 3320, "referenceAllele": "A", "start": 3319 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_011510335.1:c.2579A>G" ], "proteinEffect": { "hgvs": "XP_011508637.1:p.Lys860Arg", "hgvsWellDefined": "XP_011508637.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS077600" }, { "coordinates": [ { "allele": "G", "end": 3202, "referenceAllele": "A", "start": 3201 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_011510336.1:c.2579A>G" ], "proteinEffect": { "hgvs": "XP_011508638.1:p.Lys860Arg", "hgvsWellDefined": "XP_011508638.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS077601" }, { "@id": "http://reg.genome.network/allele/PA2826482297", "coordinates": [ { "allele": "G", "end": 2785, "referenceAllele": "A", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001261427.2:c.2489A>G" ], "proteinEffect": { "hgvs": "NP_001248356.1:p.Lys830Arg", "hgvsWellDefined": "NP_001248356.1:p.Lys830Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS512011" }, { "@id": "http://reg.genome.network/allele/PA2826482504", "coordinates": [ { "allele": "G", "end": 2830, "referenceAllele": "A", "start": 2829 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001261428.2:c.2726A>G" ], "proteinEffect": { "hgvs": "NP_001248357.1:p.Lys909Arg", "hgvsWellDefined": "NP_001248357.1:p.Lys909Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS512012" }, { "@id": "http://reg.genome.network/allele/PA2827464921", "coordinates": [ { "allele": "G", "end": 2685, "referenceAllele": "A", "start": 2684 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349199.1:c.2471A>G" ], "proteinEffect": { "hgvs": "NP_001336128.1:p.Lys824Arg", "hgvsWellDefined": "NP_001336128.1:p.Lys824Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS518508" }, { "@id": "http://reg.genome.network/allele/PA2827465591", "coordinates": [ { "allele": "G", "end": 2763, "referenceAllele": "A", "start": 2762 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349200.1:c.2549A>G" ], "proteinEffect": { "hgvs": "NP_001336129.1:p.Lys850Arg", "hgvsWellDefined": "NP_001336129.1:p.Lys850Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS518509" }, { "@id": "http://reg.genome.network/allele/PA2827466249", "coordinates": [ { "allele": "G", "end": 2645, "referenceAllele": "A", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349201.1:c.2549A>G" ], "proteinEffect": { "hgvs": "NP_001336130.1:p.Lys850Arg", "hgvsWellDefined": "NP_001336130.1:p.Lys850Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS518510" }, { "@id": "http://reg.genome.network/allele/PA2827466898", "coordinates": [ { "allele": "G", "end": 2790, "referenceAllele": "A", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349202.1:c.2576A>G" ], "proteinEffect": { "hgvs": "NP_001336131.1:p.Lys859Arg", "hgvsWellDefined": "NP_001336131.1:p.Lys859Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS518511" }, { "@id": "http://reg.genome.network/allele/PA2827467553", "coordinates": [ { "allele": "G", "end": 2672, "referenceAllele": "A", "start": 2671 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349203.1:c.2576A>G" ], "proteinEffect": { "hgvs": "NP_001336132.1:p.Lys859Arg", "hgvsWellDefined": "NP_001336132.1:p.Lys859Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS518512" }, { "@id": "http://reg.genome.network/allele/PA2827468069", "coordinates": [ { "allele": "G", "end": 2793, "referenceAllele": "A", "start": 2792 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349204.1:c.2579A>G" ], "proteinEffect": { "hgvs": "NP_001336133.1:p.Lys860Arg", "hgvsWellDefined": "NP_001336133.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS518513" }, { "@id": "http://reg.genome.network/allele/PA2827468638", "coordinates": [ { "allele": "G", "end": 3060, "referenceAllele": "A", "start": 3059 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349205.1:c.2579A>G" ], "proteinEffect": { "hgvs": "NP_001336134.1:p.Lys860Arg", "hgvsWellDefined": "NP_001336134.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS518514" }, { "@id": "http://reg.genome.network/allele/PA2827469372", "coordinates": [ { "allele": "G", "end": 2675, "referenceAllele": "A", "start": 2674 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349206.1:c.2579A>G" ], "proteinEffect": { "hgvs": "NP_001336135.1:p.Lys860Arg", "hgvsWellDefined": "NP_001336135.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS518515" }, { "@id": "http://reg.genome.network/allele/PA2827470032", "coordinates": [ { "allele": "G", "end": 2773, "referenceAllele": "A", "start": 2772 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349207.1:c.2669A>G" ], "proteinEffect": { "hgvs": "NP_001336136.1:p.Lys890Arg", "hgvsWellDefined": "NP_001336136.1:p.Lys890Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS518516" }, { "@id": "http://reg.genome.network/allele/PA2827470711", "coordinates": [ { "allele": "G", "end": 2722, "referenceAllele": "A", "start": 2721 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349208.1:c.2618A>G" ], "proteinEffect": { "hgvs": "NP_001336137.1:p.Lys873Arg", "hgvsWellDefined": "NP_001336137.1:p.Lys873Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS518517" }, { "@id": "http://reg.genome.network/allele/PA2830291706", "coordinates": [ { "allele": "G", "end": 2567, "referenceAllele": "A", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_145693.3:c.2471A>G" ], "proteinEffect": { "hgvs": "NP_663731.1:p.Lys824Arg", "hgvsWellDefined": "NP_663731.1:p.Lys824Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS526605" }, { "coordinates": [ { "allele": "G", "end": 2719, "referenceAllele": "A", "start": 2718 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NR_146080.1:n.2719A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS529861" }, { "coordinates": [ { "allele": "G", "end": 2961, "referenceAllele": "A", "start": 2960 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_006711870.4:c.2597A>G" ], "proteinEffect": { "hgvs": "XP_006711933.1:p.Lys866Arg", "hgvsWellDefined": "XP_006711933.1:p.Lys866Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538104" }, { "coordinates": [ { "allele": "G", "end": 2888, "referenceAllele": "A", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_006711872.3:c.2579A>G" ], "proteinEffect": { "hgvs": "XP_006711935.1:p.Lys860Arg", "hgvsWellDefined": "XP_006711935.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538105" }, { "coordinates": [ { "allele": "G", "end": 2827, "referenceAllele": "A", "start": 2826 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_011510333.2:c.2723A>G" ], "proteinEffect": { "hgvs": "XP_011508635.1:p.Lys908Arg", "hgvsWellDefined": "XP_011508635.1:p.Lys908Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS541666" }, { "coordinates": [ { "allele": "G", "end": 2865, "referenceAllele": "A", "start": 2864 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_011510334.3:c.2597A>G" ], "proteinEffect": { "hgvs": "XP_011508636.1:p.Lys866Arg", "hgvsWellDefined": "XP_011508636.1:p.Lys866Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS541667" }, { "coordinates": [ { "allele": "G", "end": 3320, "referenceAllele": "A", "start": 3319 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_011510335.3:c.2579A>G" ], "proteinEffect": { "hgvs": "XP_011508637.1:p.Lys860Arg", "hgvsWellDefined": "XP_011508637.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS541668" }, { "coordinates": [ { "allele": "G", "end": 3202, "referenceAllele": "A", "start": 3201 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_011510336.3:c.2579A>G" ], "proteinEffect": { "hgvs": "XP_011508638.1:p.Lys860Arg", "hgvsWellDefined": "XP_011508638.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS541669" }, { "coordinates": [ { "allele": "G", "end": 2694, "referenceAllele": "A", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_017003623.2:c.2648A>G" ], "proteinEffect": { "hgvs": "XP_016859112.1:p.Lys883Arg", "hgvsWellDefined": "XP_016859112.1:p.Lys883Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS559310" }, { "coordinates": [ { "allele": "G", "end": 2889, "referenceAllele": "A", "start": 2888 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_017003624.2:c.2579A>G" ], "proteinEffect": { "hgvs": "XP_016859113.1:p.Lys860Arg", "hgvsWellDefined": "XP_016859113.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS559311" }, { "coordinates": [ { "allele": "G", "end": 3541, "referenceAllele": "A", "start": 3540 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_017003625.2:c.2579A>G" ], "proteinEffect": { "hgvs": "XP_016859114.1:p.Lys860Arg", "hgvsWellDefined": "XP_016859114.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS559312" }, { "coordinates": [ { "allele": "G", "end": 3317, "referenceAllele": "A", "start": 3316 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_017003627.2:c.2576A>G" ], "proteinEffect": { "hgvs": "XP_016859116.1:p.Lys859Arg", "hgvsWellDefined": "XP_016859116.1:p.Lys859Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS559313" }, { "coordinates": [ { "allele": "G", "end": 3212, "referenceAllele": "A", "start": 3211 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_017003628.2:c.2471A>G" ], "proteinEffect": { "hgvs": "XP_016859117.1:p.Lys824Arg", "hgvsWellDefined": "XP_016859117.1:p.Lys824Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS559314" }, { "coordinates": [ { "allele": "G", "end": 2781, "referenceAllele": "A", "start": 2780 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_017003629.1:c.2471A>G" ], "proteinEffect": { "hgvs": "XP_016859118.1:p.Lys824Arg", "hgvsWellDefined": "XP_016859118.1:p.Lys824Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS559315" }, { "coordinates": [ { "allele": "G", "end": 2484, "referenceAllele": "A", "start": 2483 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_017003630.2:c.2471A>G" ], "proteinEffect": { "hgvs": "XP_016859119.1:p.Lys824Arg", "hgvsWellDefined": "XP_016859119.1:p.Lys824Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS559316" }, { "coordinates": [ { "allele": "G", "end": 2628, "referenceAllele": "A", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_024452762.1:c.2579A>G" ], "proteinEffect": { "hgvs": "XP_024308530.1:p.Lys860Arg", "hgvsWellDefined": "XP_024308530.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586153" }, { "coordinates": [ { "allele": "G", "end": 2853, "referenceAllele": "A", "start": 2852 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "XM_024452763.1:c.2489A>G" ], "proteinEffect": { "hgvs": "XP_024308531.1:p.Lys830Arg", "hgvsWellDefined": "XP_024308531.1:p.Lys830Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586154" }, { "@id": "http://reg.genome.network/allele/PA2826482504", "coordinates": [ { "allele": "G", "end": 2830, "referenceAllele": "A", "start": 2829 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001261428.3:c.2726A>G" ], "proteinEffect": { "hgvs": "NP_001248357.1:p.Lys909Arg", "hgvsWellDefined": "NP_001248357.1:p.Lys909Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS680888" }, { "@id": "http://reg.genome.network/allele/PA2827464921", "coordinates": [ { "allele": "G", "end": 2638, "referenceAllele": "A", "start": 2637 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349199.2:c.2471A>G" ], "proteinEffect": { "hgvs": "NP_001336128.1:p.Lys824Arg", "hgvsWellDefined": "NP_001336128.1:p.Lys824Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS687859" }, { "@id": "http://reg.genome.network/allele/PA2827465591", "coordinates": [ { "allele": "G", "end": 2716, "referenceAllele": "A", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349200.2:c.2549A>G" ], "proteinEffect": { "hgvs": "NP_001336129.1:p.Lys850Arg", "hgvsWellDefined": "NP_001336129.1:p.Lys850Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS687860" }, { "@id": "http://reg.genome.network/allele/PA2827466249", "coordinates": [ { "allele": "G", "end": 2598, "referenceAllele": "A", "start": 2597 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349201.2:c.2549A>G" ], "proteinEffect": { "hgvs": "NP_001336130.1:p.Lys850Arg", "hgvsWellDefined": "NP_001336130.1:p.Lys850Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS687861" }, { "@id": "http://reg.genome.network/allele/PA2827466898", "coordinates": [ { "allele": "G", "end": 2743, "referenceAllele": "A", "start": 2742 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349202.2:c.2576A>G" ], "proteinEffect": { "hgvs": "NP_001336131.1:p.Lys859Arg", "hgvsWellDefined": "NP_001336131.1:p.Lys859Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS687862" }, { "@id": "http://reg.genome.network/allele/PA2827467553", "coordinates": [ { "allele": "G", "end": 2625, "referenceAllele": "A", "start": 2624 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349203.2:c.2576A>G" ], "proteinEffect": { "hgvs": "NP_001336132.1:p.Lys859Arg", "hgvsWellDefined": "NP_001336132.1:p.Lys859Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS687863" }, { "@id": "http://reg.genome.network/allele/PA2827468069", "coordinates": [ { "allele": "G", "end": 2746, "referenceAllele": "A", "start": 2745 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349204.2:c.2579A>G" ], "proteinEffect": { "hgvs": "NP_001336133.1:p.Lys860Arg", "hgvsWellDefined": "NP_001336133.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS687864" }, { "@id": "http://reg.genome.network/allele/PA2827469372", "coordinates": [ { "allele": "G", "end": 2628, "referenceAllele": "A", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349206.2:c.2579A>G" ], "proteinEffect": { "hgvs": "NP_001336135.1:p.Lys860Arg", "hgvsWellDefined": "NP_001336135.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS687865", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674199.1:c.2579A>G" }, "RefSeq": { "hgvs": "NM_001349206.2:c.2579A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501331.1:p.Lys860Arg" }, "RefSeq": { "hgvs": "NP_001336135.1:p.Lys860Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2827470032", "coordinates": [ { "allele": "G", "end": 2773, "referenceAllele": "A", "start": 2772 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349207.2:c.2669A>G" ], "proteinEffect": { "hgvs": "NP_001336136.1:p.Lys890Arg", "hgvsWellDefined": "NP_001336136.1:p.Lys890Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS687866" }, { "@id": "http://reg.genome.network/allele/PA2827470711", "coordinates": [ { "allele": "G", "end": 2722, "referenceAllele": "A", "start": 2721 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349208.2:c.2618A>G" ], "proteinEffect": { "hgvs": "NP_001336137.1:p.Lys873Arg", "hgvsWellDefined": "NP_001336137.1:p.Lys873Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS687867" }, { "@id": "http://reg.genome.network/allele/PA2830291706", "coordinates": [ { "allele": "G", "end": 2520, "referenceAllele": "A", "start": 2519 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_145693.4:c.2471A>G" ], "proteinEffect": { "hgvs": "NP_663731.1:p.Lys824Arg", "hgvsWellDefined": "NP_663731.1:p.Lys824Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS700030" }, { "coordinates": [ { "allele": "G", "end": 2672, "referenceAllele": "A", "start": 2671 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NR_146080.2:n.2672A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704278" }, { "@id": "http://reg.genome.network/allele/PA2826482297", "coordinates": [ { "allele": "G", "end": 2785, "referenceAllele": "A", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001261427.3:c.2489A>G" ], "proteinEffect": { "hgvs": "NP_001248356.1:p.Lys830Arg", "hgvsWellDefined": "NP_001248356.1:p.Lys830Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS715019" }, { "@id": "http://reg.genome.network/allele/PA2827468638", "coordinates": [ { "allele": "G", "end": 3060, "referenceAllele": "A", "start": 3059 } ], "gene": "http://reg.genome.network/gene/GN013345", "geneNCBI_id": 23175, "geneSymbol": "LPIN1", "hgvs": [ "NM_001349205.2:c.2579A>G" ], "proteinEffect": { "hgvs": "NP_001336134.1:p.Lys860Arg", "hgvsWellDefined": "NP_001336134.1:p.Lys860Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS719264" } ], "type": "nucleotide" }