{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8916728", "communityStandardTitle": [ "NM_198129.4(LAMA3):c.7723T>C (p.Tyr2575His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=756407[alleleid]", "alleleId": 756407, "preferredName": "NM_198129.4(LAMA3):c.7723T>C (p.Tyr2575His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/736965", "RCV": [ "RCV000912678", "RCV001125967", "RCV001125968" ], "variationId": 736965 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/18-21495331-T-C", "id": "18-21495331-T-C", "variant": "18:21495331 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.21495331T>C?assembly=hg19", "id": "chr18:g.21495331T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.23915367T>C?assembly=hg38", "id": "chr18:g.23915367T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/377097479", "rs": 377097479 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-21495331-T-C?dataset=gnomad_r2_1", "id": "18-21495331-T-C", "variant": "18:21495331 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-23915367-T-C?dataset=gnomad_r3", "id": "18-23915367-T-C", "variant": "18:23915367 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-23915367-T-C?dataset=gnomad_r4", "id": "18-23915367-T-C", "variant": "18:23915367 T / C" } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 23915367, "referenceAllele": "T", "start": 23915366 } ], "hgvs": [ "NC_000018.10:g.23915367T>C", "CM000680.2:g.23915367T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 21495331, "referenceAllele": "T", "start": 21495330 } ], "hgvs": [ "NC_000018.9:g.21495331T>C", "CM000680.1:g.21495331T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 19749329, "referenceAllele": "T", "start": 19749328 } ], "hgvs": [ "NC_000018.8:g.19749329T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "C", "end": 230770, "referenceAllele": "T", "start": 230769 } ], "hgvs": [ "NG_007853.2:g.230770T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000677" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2921, "referenceAllele": "T", "start": 2920 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000269217.11:c.2896T>C" ], "proteinEffect": { "hgvs": "ENSP00000269217.5:p.Tyr966His", "hgvsWellDefined": "ENSP00000269217.5:p.Tyr966His" }, "referenceSequence": "http://reg.genome.network/refseq/RS743099", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269217.11:c.2896T>C" }, "RefSeq": { "hgvs": "NM_000227.6:c.2896T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269217.5:p.Tyr966His" }, "RefSeq": { "hgvs": "NP_000218.3:p.Tyr966His" } } } }, { "coordinates": [ { "allele": "C", "end": 7954, "referenceAllele": "T", "start": 7953 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000313654.14:c.7723T>C" ], "proteinEffect": { "hgvs": "ENSP00000324532.8:p.Tyr2575His", "hgvsWellDefined": "ENSP00000324532.8:p.Tyr2575His" }, "referenceSequence": "http://reg.genome.network/refseq/RS745873", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000313654.14:c.7723T>C" }, "RefSeq": { "hgvs": "NM_198129.4:c.7723T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324532.8:p.Tyr2575His" }, "RefSeq": { "hgvs": "NP_937762.2:p.Tyr2575His" } } } }, { "coordinates": [ { "allele": "C", "end": 4318, "referenceAllele": "T", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000649721.1:c.4318T>C" ], "proteinEffect": { "hgvs": "ENSP00000497885.1:p.Tyr1440His", "hgvsWellDefined": "ENSP00000497885.1:p.Tyr1440His" }, "referenceSequence": "http://reg.genome.network/refseq/RS770702" }, { "coordinates": [ { "allele": "C", "end": 3101, "referenceAllele": "T", "start": 3100 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000269217.10:c.2896T>C" ], "proteinEffect": { "hgvs": "ENSP00000269217.5:p.Tyr966His", "hgvsWellDefined": "ENSP00000269217.5:p.Tyr966His" }, "referenceSequence": "http://reg.genome.network/refseq/RS252151" }, { "coordinates": [ { "allele": "C", "end": 7964, "referenceAllele": "T", "start": 7963 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000313654.13:c.7723T>C" ], "proteinEffect": { "hgvs": "ENSP00000324532.8:p.Tyr2575His", "hgvsWellDefined": "ENSP00000324532.8:p.Tyr2575His" }, "referenceSequence": "http://reg.genome.network/refseq/RS256849" }, { "coordinates": [ { "allele": "C", "end": 7555, "referenceAllele": "T", "start": 7554 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000399516.7:c.7555T>C" ], "proteinEffect": { "hgvs": "ENSP00000382432.2:p.Tyr2519His", "hgvsWellDefined": "ENSP00000382432.2:p.Tyr2519His" }, "referenceSequence": "http://reg.genome.network/refseq/RS278706" }, { "coordinates": [ { "allele": "C", "end": 2501, "referenceAllele": "T", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000586751.5:c.2501T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS389612" }, { "coordinates": [ { "allele": "C", "end": 2728, "referenceAllele": "T", "start": 2727 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000587184.5:c.2728T>C" ], "proteinEffect": { "hgvs": "ENSP00000466557.1:p.Tyr910His", "hgvsWellDefined": "ENSP00000466557.1:p.Tyr910His" }, "referenceSequence": "http://reg.genome.network/refseq/RS389901" }, { "coordinates": [ { "allele": "C", "end": 2301, "referenceAllele": "T", "start": 2300 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000588770.5:n.2301T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS391016" }, { "@id": "http://reg.genome.network/allele/PA915966336", "coordinates": [ { "allele": "C", "end": 2921, "referenceAllele": "T", "start": 2920 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_000227.4:c.2896T>C" ], "proteinEffect": { "hgvs": "NP_000218.3:p.Tyr966His", "hgvsWellDefined": "NP_000218.3:p.Tyr966His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006290" }, { "@id": "http://reg.genome.network/allele/PA2825659402", "coordinates": [ { "allele": "C", "end": 7796, "referenceAllele": "T", "start": 7795 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127717.2:c.7555T>C" ], "proteinEffect": { "hgvs": "NP_001121189.2:p.Tyr2519His", "hgvsWellDefined": "NP_001121189.2:p.Tyr2519His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011698" }, { "@id": "http://reg.genome.network/allele/PA2825660242", "coordinates": [ { "allele": "C", "end": 2753, "referenceAllele": "T", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127718.2:c.2728T>C" ], "proteinEffect": { "hgvs": "NP_001121190.2:p.Tyr910His", "hgvsWellDefined": "NP_001121190.2:p.Tyr910His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011699" }, { "@id": "http://reg.genome.network/allele/PA2830428241", "coordinates": [ { "allele": "C", "end": 7964, "referenceAllele": "T", "start": 7963 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_198129.2:c.7723T>C" ], "proteinEffect": { "hgvs": "NP_937762.2:p.Tyr2575His", "hgvsWellDefined": "NP_937762.2:p.Tyr2575His" }, "referenceSequence": "http://reg.genome.network/refseq/RS044433" }, { "coordinates": [ { "allele": "C", "end": 7991, "referenceAllele": "T", "start": 7990 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525978.1:c.7750T>C" ], "proteinEffect": { "hgvs": "XP_011524280.1:p.Tyr2584His", "hgvsWellDefined": "XP_011524280.1:p.Tyr2584His" }, "referenceSequence": "http://reg.genome.network/refseq/RS093086" }, { "coordinates": [ { "allele": "C", "end": 7982, "referenceAllele": "T", "start": 7981 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525979.1:c.7741T>C" ], "proteinEffect": { "hgvs": "XP_011524281.1:p.Tyr2581His", "hgvsWellDefined": "XP_011524281.1:p.Tyr2581His" }, "referenceSequence": "http://reg.genome.network/refseq/RS093087" }, { "coordinates": [ { "allele": "C", "end": 7973, "referenceAllele": "T", "start": 7972 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525980.1:c.7732T>C" ], "proteinEffect": { "hgvs": "XP_011524282.1:p.Tyr2578His", "hgvsWellDefined": "XP_011524282.1:p.Tyr2578His" }, "referenceSequence": "http://reg.genome.network/refseq/RS093088" }, { "coordinates": [ { "allele": "C", "end": 7859, "referenceAllele": "T", "start": 7858 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525981.1:c.7618T>C" ], "proteinEffect": { "hgvs": "XP_011524283.1:p.Tyr2540His", "hgvsWellDefined": "XP_011524283.1:p.Tyr2540His" }, "referenceSequence": "http://reg.genome.network/refseq/RS093089" }, { "coordinates": [ { "allele": "C", "end": 7694, "referenceAllele": "T", "start": 7693 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525982.1:c.7453T>C" ], "proteinEffect": { "hgvs": "XP_011524284.1:p.Tyr2485His", "hgvsWellDefined": "XP_011524284.1:p.Tyr2485His" }, "referenceSequence": "http://reg.genome.network/refseq/RS093090" }, { "coordinates": [ { "allele": "C", "end": 7991, "referenceAllele": "T", "start": 7990 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525978.2:c.7750T>C" ], "proteinEffect": { "hgvs": "XP_011524280.1:p.Tyr2584His", "hgvsWellDefined": "XP_011524280.1:p.Tyr2584His" }, "referenceSequence": "http://reg.genome.network/refseq/RS548087" }, { "coordinates": [ { "allele": "C", "end": 7982, "referenceAllele": "T", "start": 7981 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525979.2:c.7741T>C" ], "proteinEffect": { "hgvs": "XP_011524281.1:p.Tyr2581His", "hgvsWellDefined": "XP_011524281.1:p.Tyr2581His" }, "referenceSequence": "http://reg.genome.network/refseq/RS548088" }, { "coordinates": [ { "allele": "C", "end": 7973, "referenceAllele": "T", "start": 7972 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525980.2:c.7732T>C" ], "proteinEffect": { "hgvs": "XP_011524282.1:p.Tyr2578His", "hgvsWellDefined": "XP_011524282.1:p.Tyr2578His" }, "referenceSequence": "http://reg.genome.network/refseq/RS548089" }, { "coordinates": [ { "allele": "C", "end": 7859, "referenceAllele": "T", "start": 7858 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525981.2:c.7618T>C" ], "proteinEffect": { "hgvs": "XP_011524283.1:p.Tyr2540His", "hgvsWellDefined": "XP_011524283.1:p.Tyr2540His" }, "referenceSequence": "http://reg.genome.network/refseq/RS548090" }, { "coordinates": [ { "allele": "C", "end": 7694, "referenceAllele": "T", "start": 7693 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525982.2:c.7453T>C" ], "proteinEffect": { "hgvs": "XP_011524284.1:p.Tyr2485His", "hgvsWellDefined": "XP_011524284.1:p.Tyr2485His" }, "referenceSequence": "http://reg.genome.network/refseq/RS548091" }, { "coordinates": [ { "allele": "C", "end": 5675, "referenceAllele": "T", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_017025743.1:c.5602T>C" ], "proteinEffect": { "hgvs": "XP_016881232.1:p.Tyr1868His", "hgvsWellDefined": "XP_016881232.1:p.Tyr1868His" }, "referenceSequence": "http://reg.genome.network/refseq/RS576037" }, { "coordinates": [ { "allele": "C", "end": 4356, "referenceAllele": "T", "start": 4355 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_017025744.1:c.3292T>C" ], "proteinEffect": { "hgvs": "XP_016881233.1:p.Tyr1098His", "hgvsWellDefined": "XP_016881233.1:p.Tyr1098His" }, "referenceSequence": "http://reg.genome.network/refseq/RS576038" }, { "coordinates": [ { "allele": "C", "end": 7991, "referenceAllele": "T", "start": 7990 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XR_001753199.1:n.7991T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS599792" }, { "@id": "http://reg.genome.network/allele/PA915966336", "coordinates": [ { "allele": "C", "end": 2921, "referenceAllele": "T", "start": 2920 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_000227.5:c.2896T>C" ], "proteinEffect": { "hgvs": "NP_000218.3:p.Tyr966His", "hgvsWellDefined": "NP_000218.3:p.Tyr966His" }, "referenceSequence": "http://reg.genome.network/refseq/RS674753" }, { "@id": "http://reg.genome.network/allele/PA2825659402", "coordinates": [ { "allele": "C", "end": 7786, "referenceAllele": "T", "start": 7785 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127717.3:c.7555T>C" ], "proteinEffect": { "hgvs": "NP_001121189.2:p.Tyr2519His", "hgvsWellDefined": "NP_001121189.2:p.Tyr2519His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676946" }, { "@id": "http://reg.genome.network/allele/PA2825660242", "coordinates": [ { "allele": "C", "end": 2753, "referenceAllele": "T", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127718.3:c.2728T>C" ], "proteinEffect": { "hgvs": "NP_001121190.2:p.Tyr910His", "hgvsWellDefined": "NP_001121190.2:p.Tyr910His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676947" }, { "@id": "http://reg.genome.network/allele/PA2830428241", "coordinates": [ { "allele": "C", "end": 7954, "referenceAllele": "T", "start": 7953 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_198129.3:c.7723T>C" ], "proteinEffect": { "hgvs": "NP_937762.2:p.Tyr2575His", "hgvsWellDefined": "NP_937762.2:p.Tyr2575His" }, "referenceSequence": "http://reg.genome.network/refseq/RS701253" }, { "@id": "http://reg.genome.network/allele/PA915966336", "coordinates": [ { "allele": "C", "end": 2921, "referenceAllele": "T", "start": 2920 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_000227.6:c.2896T>C" ], "proteinEffect": { "hgvs": "NP_000218.3:p.Tyr966His", "hgvsWellDefined": "NP_000218.3:p.Tyr966His" }, "referenceSequence": "http://reg.genome.network/refseq/RS710810", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269217.11:c.2896T>C" }, "RefSeq": { "hgvs": "NM_000227.6:c.2896T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269217.5:p.Tyr966His" }, "RefSeq": { "hgvs": "NP_000218.3:p.Tyr966His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825659402", "coordinates": [ { "allele": "C", "end": 7786, "referenceAllele": "T", "start": 7785 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127717.4:c.7555T>C" ], "proteinEffect": { "hgvs": "NP_001121189.2:p.Tyr2519His", "hgvsWellDefined": "NP_001121189.2:p.Tyr2519His" }, "referenceSequence": "http://reg.genome.network/refseq/RS712231" }, { "@id": "http://reg.genome.network/allele/PA2825660242", "coordinates": [ { "allele": "C", "end": 2753, "referenceAllele": "T", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127718.4:c.2728T>C" ], "proteinEffect": { "hgvs": "NP_001121190.2:p.Tyr910His", "hgvsWellDefined": "NP_001121190.2:p.Tyr910His" }, "referenceSequence": "http://reg.genome.network/refseq/RS712232" }, { "@id": "http://reg.genome.network/allele/PA2830428241", "coordinates": [ { "allele": "C", "end": 7954, "referenceAllele": "T", "start": 7953 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_198129.4:c.7723T>C" ], "proteinEffect": { "hgvs": "NP_937762.2:p.Tyr2575His", "hgvsWellDefined": "NP_937762.2:p.Tyr2575His" }, "referenceSequence": "http://reg.genome.network/refseq/RS729879", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000313654.14:c.7723T>C" }, "RefSeq": { "hgvs": "NM_198129.4:c.7723T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324532.8:p.Tyr2575His" }, "RefSeq": { "hgvs": "NP_937762.2:p.Tyr2575His" } } } } ], "type": "nucleotide" }