{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7584949", "communityStandardTitle": [ "NM_000236.3(LIPC):c.644A>G (p.Asn215Ser)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM4128309" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=340965[alleleid]", "alleleId": 340965, "preferredName": "NM_000236.3(LIPC):c.644A>G (p.Asn215Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/316665", "RCV": [ "RCV000261063", "RCV001723903", "RCV001699360" ], "variationId": 316665 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-58838010-A-G", "id": "15-58838010-A-G", "variant": "15:58838010 A / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.58838010A>G?assembly=hg19", "id": "chr15:g.58838010A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.58545811A>G?assembly=hg38", "id": "chr15:g.58545811A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/6083", "rs": 6083 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-58838010-A-G?dataset=gnomad_r2_1", "id": "15-58838010-A-G", "variant": "15:58838010 A / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-58545811-A-G?dataset=gnomad_r3", "id": "15-58545811-A-G", "variant": "15:58545811 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-58545811-A-G?dataset=gnomad_r4", "id": "15-58545811-A-G", "variant": "15:58545811 A / G" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "G", "end": 58545811, "referenceAllele": "A", "start": 58545810 } ], "hgvs": [ "NC_000015.10:g.58545811A>G", "CM000677.2:g.58545811A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "G", "end": 58838010, "referenceAllele": "A", "start": 58838009 } ], "hgvs": [ "NC_000015.9:g.58838010A>G", "CM000677.1:g.58838010A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "G", "end": 56625302, "referenceAllele": "A", "start": 56625301 } ], "hgvs": [ "NC_000015.8:g.56625302A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "G", "end": 118836, "referenceAllele": "A", "start": 118835 } ], "hgvs": [ "NG_011465.1:g.118836A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001733" }, { "coordinates": [ { "allele": "G", "end": 118836, "referenceAllele": "A", "start": 118835 } ], "hgvs": [ "NG_011465.2:g.118836A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS673538" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 686, "referenceAllele": "A", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "ENST00000299022.10:c.644A>G" ], "proteinEffect": { "hgvs": "ENSP00000299022.5:p.Asn215Ser", "hgvsWellDefined": "ENSP00000299022.5:p.Asn215Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS744637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299022.10:c.644A>G" }, "RefSeq": { "hgvs": "NM_000236.3:c.644A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299022.5:p.Asn215Ser" }, "RefSeq": { "hgvs": "NP_000227.2:p.Asn215Ser" } } } }, { "coordinates": [ { "allele": "G", "end": 879, "referenceAllele": "A", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "ENST00000299022.9:c.644A>G" ], "proteinEffect": { "hgvs": "ENSP00000299022.5:p.Asn215Ser", "hgvsWellDefined": "ENSP00000299022.5:p.Asn215Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS254660" }, { "coordinates": [ { "allele": "G", "end": 1259, "referenceAllele": "A", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "ENST00000356113.10:c.644A>G" ], "proteinEffect": { "hgvs": "ENSP00000348425.6:p.Asn215Ser", "hgvsWellDefined": "ENSP00000348425.6:p.Asn215Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS263650" }, { "coordinates": [ { "allele": "G", "end": 931, "referenceAllele": "A", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "ENST00000414170.7:c.644A>G" ], "proteinEffect": { "hgvs": "ENSP00000395569.3:p.Asn215Ser", "hgvsWellDefined": "ENSP00000395569.3:p.Asn215Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS283404" }, { "coordinates": [ { "allele": "G", "end": 503, "referenceAllele": "A", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "ENST00000433326.2:c.461A>G" ], "proteinEffect": { "hgvs": "ENSP00000395002.2:p.Asn154Ser", "hgvsWellDefined": "ENSP00000395002.2:p.Asn154Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS292485" }, { "coordinates": [ { "allele": "G", "end": 501, "referenceAllele": "A", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "ENST00000559845.5:n.501A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS374906" }, { "coordinates": [ { "allele": "G", "end": 408, "referenceAllele": "A", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "ENST00000560664.1:n.408A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS375518" }, { "@id": "http://reg.genome.network/allele/PA645477244", "coordinates": [ { "allele": "G", "end": 701, "referenceAllele": "A", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "NM_000236.2:c.644A>G" ], "proteinEffect": { "hgvs": "NP_000227.2:p.Asn215Ser", "hgvsWellDefined": "NP_000227.2:p.Asn215Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006299" }, { "coordinates": [ { "allele": "G", "end": 749, "referenceAllele": "A", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "XM_005254372.1:c.644A>G" ], "proteinEffect": { "hgvs": "XP_005254429.1:p.Asn215Ser", "hgvsWellDefined": "XP_005254429.1:p.Asn215Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS060605" }, { "coordinates": [ { "allele": "G", "end": 626, "referenceAllele": "A", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "XM_005254374.3:c.581A>G" ], "proteinEffect": { "hgvs": "XP_005254431.1:p.Asn194Ser", "hgvsWellDefined": "XP_005254431.1:p.Asn194Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS060606" }, { "coordinates": [ { "allele": "G", "end": 897, "referenceAllele": "A", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "XM_006720502.2:c.503A>G" ], "proteinEffect": { "hgvs": "XP_006720565.1:p.Asn168Ser", "hgvsWellDefined": "XP_006720565.1:p.Asn168Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS073690" }, { "coordinates": [ { "allele": "G", "end": 749, "referenceAllele": "A", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "XM_011521551.1:c.644A>G" ], "proteinEffect": { "hgvs": "XP_011519853.1:p.Asn215Ser", "hgvsWellDefined": "XP_011519853.1:p.Asn215Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS088711" }, { "coordinates": [ { "allele": "G", "end": 2043, "referenceAllele": "A", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "XM_005254374.4:c.680A>G" ], "proteinEffect": { "hgvs": "XP_005254431.2:p.Asn227Ser", "hgvsWellDefined": "XP_005254431.2:p.Asn227Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS534108" }, { "coordinates": [ { "allele": "G", "end": 646, "referenceAllele": "A", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "XM_006720502.4:c.503A>G" ], "proteinEffect": { "hgvs": "XP_006720565.1:p.Asn168Ser", "hgvsWellDefined": "XP_006720565.1:p.Asn168Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS540111" }, { "coordinates": [ { "allele": "G", "end": 2058, "referenceAllele": "A", "start": 2057 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "XM_017022176.1:c.680A>G" ], "proteinEffect": { "hgvs": "XP_016877665.1:p.Asn227Ser", "hgvsWellDefined": "XP_016877665.1:p.Asn227Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS573187" }, { "coordinates": [ { "allele": "G", "end": 1371, "referenceAllele": "A", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "XM_024449916.1:c.644A>G" ], "proteinEffect": { "hgvs": "XP_024305684.1:p.Asn215Ser", "hgvsWellDefined": "XP_024305684.1:p.Asn215Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS583458" }, { "coordinates": [ { "allele": "G", "end": 779, "referenceAllele": "A", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "XM_024449917.1:c.644A>G" ], "proteinEffect": { "hgvs": "XP_024305685.1:p.Asn215Ser", "hgvsWellDefined": "XP_024305685.1:p.Asn215Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS583459" }, { "@id": "http://reg.genome.network/allele/PA645477244", "coordinates": [ { "allele": "G", "end": 686, "referenceAllele": "A", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN006619", "geneNCBI_id": 3990, "geneSymbol": "LIPC", "hgvs": [ "NM_000236.3:c.644A>G" ], "proteinEffect": { "hgvs": "NP_000227.2:p.Asn215Ser", "hgvsWellDefined": "NP_000227.2:p.Asn215Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS662369", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299022.10:c.644A>G" }, "RefSeq": { "hgvs": "NM_000236.3:c.644A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299022.5:p.Asn215Ser" }, "RefSeq": { "hgvs": "NP_000227.2:p.Asn215Ser" } } } } ], "type": "nucleotide" }