{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA395344438", "communityStandardTitle": [ "NM_001042432.2(CLN3):c.884A>G (p.Glu295Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1470409[alleleid]", "alleleId": 1470409, "preferredName": "NM_001042432.2(CLN3):c.884A>G (p.Glu295Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1376023", "RCV": [ "RCV001885680" ], "variationId": 1376023 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.28493820T>C?assembly=hg19", "id": "chr16:g.28493820T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.28482499T>C?assembly=hg38", "id": "chr16:g.28482499T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2141703722", "rs": 2141703722 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 28482499, "referenceAllele": "T", "start": 28482498 } ], "hgvs": [ "NC_000016.10:g.28482499T>C", "CM000678.2:g.28482499T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 28493820, "referenceAllele": "T", "start": 28493819 } ], "hgvs": [ "NC_000016.9:g.28493820T>C", "CM000678.1:g.28493820T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 28401321, "referenceAllele": "T", "start": 28401320 } ], "hgvs": [ "NC_000016.8:g.28401321T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "G", "end": 14804, "referenceAllele": "A", "start": 14803 } ], "hgvs": [ "NG_008654.2:g.14804A>G", "LRG_689:g.14804A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001147" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 944, "referenceAllele": "A", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000333496.14:c.812A>G" ], "proteinEffect": { "hgvs": "ENSP00000329171.9:p.Glu271Gly", "hgvsWellDefined": "ENSP00000329171.9:p.Glu271Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS747316" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000355477.10:c.740A>G" ], "proteinEffect": { "hgvs": "ENSP00000347660.7:p.Glu247Gly", "hgvsWellDefined": "ENSP00000347660.7:p.Glu247Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS748673" }, { "coordinates": [ { "allele": "G", "end": 1051, "referenceAllele": "A", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000357857.14:c.722A>G" ], "proteinEffect": { "hgvs": "ENSP00000350523.9:p.Glu241Gly", "hgvsWellDefined": "ENSP00000350523.9:p.Glu241Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS749000" }, { "coordinates": [ { "allele": "G", "end": 1199, "referenceAllele": "A", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000359984.12:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000353073.9:p.Glu295Gly", "hgvsWellDefined": "ENSP00000353073.9:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS749261" }, { "coordinates": [ { "allele": "G", "end": 1171, "referenceAllele": "A", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000360019.8:c.812A>G" ], "proteinEffect": { "hgvs": "ENSP00000353116.3:p.Glu271Gly", "hgvsWellDefined": "ENSP00000353116.3:p.Glu271Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS749265" }, { "coordinates": [ { "allele": "G", "end": 772, "referenceAllele": "A", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000395653.9:c.425A>G" ], "proteinEffect": { "hgvs": "ENSP00000379014.5:p.Glu142Gly", "hgvsWellDefined": "ENSP00000379014.5:p.Glu142Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS753419" }, { "coordinates": [ { "allele": "G", "end": 1169, "referenceAllele": "A", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000561689.6:n.1169A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS760329" }, { "coordinates": [ { "allele": "G", "end": 224, "referenceAllele": "A", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000564091.6:c.224A>G" ], "proteinEffect": { "hgvs": "ENSP00000454466.2:p.Glu75Gly", "hgvsWellDefined": "ENSP00000454466.2:p.Glu75Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS760418" }, { "coordinates": [ { "allele": "G", "end": 855, "endIntronDirection": "+", "endIntronOffset": 109, "referenceAllele": "A", "start": 855, "startIntronDirection": "+", "startIntronOffset": 108 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000565316.6:c.855+109A>G" ], "proteinEffect": { "hgvs": "ENSP00000456117.1:n.855+109A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS760462" }, { "coordinates": [ { "allele": "G", "end": 944, "referenceAllele": "A", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000566824.6:n.944A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS760505" }, { "coordinates": [ { "allele": "G", "end": 936, "referenceAllele": "A", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000567963.6:c.722A>G" ], "proteinEffect": { "hgvs": "ENSP00000455387.2:p.Glu241Gly", "hgvsWellDefined": "ENSP00000455387.2:p.Glu241Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS760536" }, { "coordinates": [ { "allele": "G", "end": 1091, "referenceAllele": "A", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568076.6:n.1091A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS760540" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568422.6:c.*121A>G" ], "proteinEffect": { "hgvs": "ENSP00000455549.2:n.*121A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS760549" }, { "coordinates": [ { "allele": "G", "end": 987, "referenceAllele": "A", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568452.6:n.987A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS760553" }, { "coordinates": [ { "allele": "G", "end": 840, "referenceAllele": "A", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568472.6:n.840A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS760556" }, { "coordinates": [ { "allele": "G", "end": 587, "referenceAllele": "A", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568497.6:c.-86A>G" ], "proteinEffect": { "hgvs": "ENSP00000456414.2:n.-86A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS760560" }, { "coordinates": [ { "allele": "G", "end": 3212, "referenceAllele": "A", "start": 3211 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000569430.7:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000454229.1:p.Glu295Gly", "hgvsWellDefined": "ENSP00000454229.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS760598" }, { "coordinates": [ { "allele": "G", "end": 706, "referenceAllele": "A", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000628023.3:c.*180A>G" ], "proteinEffect": { "hgvs": "ENSP00000486178.1:n.*180A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS762500" }, { "coordinates": [ { "allele": "G", "end": 843, "referenceAllele": "A", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635861.1:c.*408A>G" ], "proteinEffect": { "hgvs": "ENSP00000490034.1:n.*408A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS762691" }, { "coordinates": [ { "allele": "G", "end": 982, "referenceAllele": "A", "start": 981 } ], "hgvs": [ "ENST00000635887.1:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000490709.1:p.Glu295Gly", "hgvsWellDefined": "ENSP00000490709.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS762712" }, { "coordinates": [ { "allele": "G", "end": 1075, "referenceAllele": "A", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635958.1:n.1075A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS762766" }, { "coordinates": [ { "allele": "G", "end": 912, "referenceAllele": "A", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635973.1:c.635A>G" ], "proteinEffect": { "hgvs": "ENSP00000490363.1:p.Glu212Gly", "hgvsWellDefined": "ENSP00000490363.1:p.Glu212Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS762777" }, { "coordinates": [ { "allele": "G", "end": 959, "referenceAllele": "A", "start": 958 } ], "hgvs": [ "ENST00000636017.1:c.*408A>G" ], "proteinEffect": { "hgvs": "ENSP00000490538.1:n.*408A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS762811" }, { "coordinates": [ { "allele": "G", "end": 1006, "referenceAllele": "A", "start": 1005 } ], "hgvs": [ "ENST00000636078.1:n.1006A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS762857" }, { "coordinates": [ { "allele": "G", "end": 1015, "referenceAllele": "A", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636147.2:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000490105.1:p.Glu295Gly", "hgvsWellDefined": "ENSP00000490105.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS762906", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636147.2:c.884A>G" }, "RefSeq": { "hgvs": "NM_001042432.2:c.884A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490105.1:p.Glu295Gly" }, "RefSeq": { "hgvs": "NP_001035897.1:p.Glu295Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 1103, "referenceAllele": "A", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636172.1:c.*408A>G" ], "proteinEffect": { "hgvs": "ENSP00000490505.1:n.*408A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS762924" }, { "coordinates": [ { "allele": "G", "end": 758, "referenceAllele": "A", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636228.1:c.578A>G" ], "proteinEffect": { "hgvs": "ENSP00000489627.1:p.Glu193Gly", "hgvsWellDefined": "ENSP00000489627.1:p.Glu193Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS762968" }, { "coordinates": [ { "allele": "G", "end": 684, "referenceAllele": "A", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636351.1:n.684A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763055" }, { "coordinates": [ { "allele": "G", "end": 915, "referenceAllele": "A", "start": 914 } ], "hgvs": [ "ENST00000636503.1:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000489824.1:p.Glu295Gly", "hgvsWellDefined": "ENSP00000489824.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS763165" }, { "coordinates": [ { "allele": "G", "end": 471, "referenceAllele": "A", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636685.1:n.471A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763307" }, { "coordinates": [ { "allele": "G", "end": 1015, "referenceAllele": "A", "start": 1014 } ], "hgvs": [ "ENST00000636766.1:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000489841.1:p.Glu295Gly", "hgvsWellDefined": "ENSP00000489841.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS763363" }, { "coordinates": [ { "allele": "G", "end": 1036, "referenceAllele": "A", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636839.1:n.1036A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763420" }, { "coordinates": [ { "allele": "G", "end": 1799, "referenceAllele": "A", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636853.1:n.1799A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763430" }, { "coordinates": [ { "allele": "G", "end": 988, "referenceAllele": "A", "start": 987 } ], "hgvs": [ "ENST00000636866.1:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000490880.1:p.Glu295Gly", "hgvsWellDefined": "ENSP00000490880.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS763442" }, { "coordinates": [ { "allele": "G", "end": 1035, "referenceAllele": "A", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636907.1:n.1035A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763472" }, { "coordinates": [ { "allele": "G", "end": 2032, "referenceAllele": "A", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636977.1:n.2032A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763518" }, { "coordinates": [ { "allele": "G", "end": 1051, "referenceAllele": "A", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637050.1:n.1051A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763573" }, { "coordinates": [ { "allele": "G", "end": 982, "endIntronDirection": "+", "endIntronOffset": 109, "referenceAllele": "A", "start": 982, "startIntronDirection": "+", "startIntronOffset": 108 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637100.1:c.855+109A>G" ], "proteinEffect": { "hgvs": "ENSP00000490394.1:n.855+109A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS763613" }, { "coordinates": [ { "allele": "G", "end": 1316, "referenceAllele": "A", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637107.1:c.*408A>G" ], "proteinEffect": { "hgvs": "ENSP00000490248.1:n.*408A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS763620" }, { "coordinates": [ { "allele": "G", "end": 988, "referenceAllele": "A", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637184.1:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000489952.1:p.Glu295Gly", "hgvsWellDefined": "ENSP00000489952.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS763674" }, { "coordinates": [ { "allele": "G", "end": 941, "referenceAllele": "A", "start": 940 } ], "hgvs": [ "ENST00000637299.1:c.*693A>G" ], "proteinEffect": { "hgvs": "ENSP00000489823.1:n.*693A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS763764" }, { "coordinates": [ { "allele": "G", "end": 1003, "referenceAllele": "A", "start": 1002 } ], "hgvs": [ "ENST00000637376.1:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000490758.1:p.Glu295Gly", "hgvsWellDefined": "ENSP00000490758.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS763821" }, { "coordinates": [ { "allele": "G", "end": 56, "referenceAllele": "A", "start": 55 } ], "hgvs": [ "ENST00000637378.1:c.56A>G" ], "proteinEffect": { "hgvs": "ENSP00000490831.1:p.Glu19Gly", "hgvsWellDefined": "ENSP00000490831.1:p.Glu19Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS763822" }, { "coordinates": [ { "allele": "G", "end": 989, "referenceAllele": "A", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637578.1:c.*408A>G" ], "proteinEffect": { "hgvs": "ENSP00000490206.1:n.*408A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS763960" }, { "coordinates": [ { "allele": "G", "end": 667, "referenceAllele": "A", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637699.1:c.667A>G" ], "proteinEffect": { "hgvs": "ENSP00000490049.1:n.667A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS764047" }, { "coordinates": [ { "allele": "G", "end": 223, "referenceAllele": "A", "start": 222 } ], "hgvs": [ "ENST00000637745.1:c.223A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS764079" }, { "coordinates": [ { "allele": "G", "end": 1015, "referenceAllele": "A", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637871.1:c.*488A>G" ], "proteinEffect": { "hgvs": "ENSP00000490670.1:n.*488A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS764171" }, { "coordinates": [ { "allele": "G", "end": 46, "referenceAllele": "A", "start": 45 } ], "hgvs": [ "ENST00000638036.1:c.46A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS764292" }, { "coordinates": [ { "allele": "G", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000333496.13:c.812A>G" ], "proteinEffect": { "hgvs": "ENSP00000329171.9:p.Glu271Gly", "hgvsWellDefined": "ENSP00000329171.9:p.Glu271Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS259728" }, { "coordinates": [ { "allele": "G", "end": 990, "referenceAllele": "A", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000355477.9:c.*121A>G" ], "proteinEffect": { "hgvs": "ENSP00000347660.6:n.*121A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS263442" }, { "coordinates": [ { "allele": "G", "end": 811, "referenceAllele": "A", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000357806.11:c.587A>G" ], "proteinEffect": { "hgvs": "ENSP00000350457.7:p.Glu196Gly", "hgvsWellDefined": "ENSP00000350457.7:p.Glu196Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS264242" }, { "coordinates": [ { "allele": "G", "end": 899, "referenceAllele": "A", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000357857.13:c.722A>G" ], "proteinEffect": { "hgvs": "ENSP00000350523.9:p.Glu241Gly", "hgvsWellDefined": "ENSP00000350523.9:p.Glu241Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS264252" }, { "coordinates": [ { "allele": "G", "end": 1063, "referenceAllele": "A", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000359984.11:c.578A>G" ], "proteinEffect": { "hgvs": "ENSP00000353073.8:p.Glu193Gly", "hgvsWellDefined": "ENSP00000353073.8:p.Glu193Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS264975" }, { "coordinates": [ { "allele": "G", "end": 1243, "referenceAllele": "A", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000360019.6:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000353116.2:p.Glu295Gly", "hgvsWellDefined": "ENSP00000353116.2:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS264989" }, { "coordinates": [ { "allele": "G", "end": 989, "referenceAllele": "A", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000395653.8:c.584A>G" ], "proteinEffect": { "hgvs": "ENSP00000379014.4:p.Glu195Gly", "hgvsWellDefined": "ENSP00000379014.4:p.Glu195Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS276815" }, { "coordinates": [ { "allele": "G", "end": 725, "referenceAllele": "A", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000561689.5:n.725A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS376280" }, { "coordinates": [ { "allele": "G", "end": 2318, "referenceAllele": "A", "start": 2317 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000563874.5:n.2318A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS377705" }, { "coordinates": [ { "allele": "G", "end": 932, "referenceAllele": "A", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000564574.5:n.932A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS378178" }, { "coordinates": [ { "allele": "G", "end": 667, "referenceAllele": "A", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000565140.5:c.667A>G" ], "proteinEffect": { "hgvs": "ENSP00000455342.1:n.667A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS378561" }, { "coordinates": [ { "allele": "G", "end": 855, "endIntronDirection": "+", "endIntronOffset": 109, "referenceAllele": "A", "start": 855, "startIntronDirection": "+", "startIntronOffset": 108 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000565316.5:c.855+109A>G" ], "proteinEffect": { "hgvs": "ENSP00000456117.1:n.855+109A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS378672" }, { "coordinates": [ { "allele": "G", "end": 103, "referenceAllele": "A", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000565354.5:n.103A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS378700" }, { "coordinates": [ { "allele": "G", "end": 498, "referenceAllele": "A", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000566057.5:c.498A>G" ], "proteinEffect": { "hgvs": "ENSP00000456693.1:n.498A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS379156" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000567495.5:c.*121A>G" ], "proteinEffect": { "hgvs": "ENSP00000456013.1:n.*121A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS380150" }, { "coordinates": [ { "allele": "G", "end": 996, "referenceAllele": "A", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000567963.5:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000455387.1:p.Glu295Gly", "hgvsWellDefined": "ENSP00000455387.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS380460" }, { "coordinates": [ { "allele": "G", "end": 667, "referenceAllele": "A", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568076.5:n.667A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS380536" }, { "coordinates": [ { "allele": "G", "end": 986, "referenceAllele": "A", "start": 985 } ], "hgvs": [ "ENST00000568224.4:c.650A>G" ], "proteinEffect": { "hgvs": "ENSP00000454253.1:p.Glu217Gly", "hgvsWellDefined": "ENSP00000454253.1:p.Glu217Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS380632" }, { "coordinates": [ { "allele": "G", "end": 758, "referenceAllele": "A", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568422.5:c.*121A>G" ], "proteinEffect": { "hgvs": "ENSP00000455549.1:n.*121A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS380772" }, { "coordinates": [ { "allele": "G", "end": 884, "referenceAllele": "A", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568452.5:n.884A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS380793" }, { "coordinates": [ { "allele": "G", "end": 364, "referenceAllele": "A", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568472.5:n.364A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS380808" }, { "coordinates": [ { "allele": "G", "end": 528, "referenceAllele": "A", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568497.5:c.*180A>G" ], "proteinEffect": { "hgvs": "ENSP00000456414.1:n.*180A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS380825" }, { "coordinates": [ { "allele": "G", "end": 608, "referenceAllele": "A", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568558.5:c.425A>G" ], "proteinEffect": { "hgvs": "ENSP00000455603.1:p.Glu142Gly", "hgvsWellDefined": "ENSP00000455603.1:p.Glu142Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS380866" }, { "coordinates": [ { "allele": "G", "end": 554, "referenceAllele": "A", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000569030.5:c.554A>G" ], "proteinEffect": { "hgvs": "ENSP00000454680.1:p.Glu185Gly", "hgvsWellDefined": "ENSP00000454680.1:p.Glu185Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS381191" }, { "coordinates": [ { "allele": "G", "end": 1704, "referenceAllele": "A", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000569430.5:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000454229.1:p.Glu295Gly", "hgvsWellDefined": "ENSP00000454229.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS381468" }, { "coordinates": [ { "allele": "G", "end": 752, "referenceAllele": "A", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000628023.2:c.*180A>G" ], "proteinEffect": { "hgvs": "ENSP00000486178.1:n.*180A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS406979" }, { "coordinates": [ { "allele": "G", "end": 1207, "referenceAllele": "A", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000631023.2:c.884A>G" ], "proteinEffect": { "hgvs": "ENSP00000486616.1:p.Glu295Gly", "hgvsWellDefined": "ENSP00000486616.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS407459" }, { "@id": "http://reg.genome.network/allele/PA2825053010", "coordinates": [ { "allele": "G", "end": 1207, "referenceAllele": "A", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_000086.2:c.884A>G", "LRG_689t1:c.884A>G" ], "proteinEffect": { "hgvs": "NP_000077.1:p.Glu295Gly", "hgvsWellDefined": "NP_000077.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006150" }, { "@id": "http://reg.genome.network/allele/PA2573176578", "coordinates": [ { "allele": "G", "end": 1243, "referenceAllele": "A", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.1:c.884A>G", "LRG_689t2:c.884A>G" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Glu295Gly", "hgvsWellDefined": "NP_001035897.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS009690" }, { "@id": "http://reg.genome.network/allele/PA2826704521", "coordinates": [ { "allele": "G", "end": 1171, "referenceAllele": "A", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.1:c.812A>G" ], "proteinEffect": { "hgvs": "NP_001273033.1:p.Glu271Gly", "hgvsWellDefined": "NP_001273033.1:p.Glu271Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS022739" }, { "@id": "http://reg.genome.network/allele/PA2826705167", "coordinates": [ { "allele": "G", "end": 1048, "referenceAllele": "A", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286105.1:c.584A>G" ], "proteinEffect": { "hgvs": "NP_001273034.1:p.Glu195Gly", "hgvsWellDefined": "NP_001273034.1:p.Glu195Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS022740" }, { "@id": "http://reg.genome.network/allele/PA2826706164", "coordinates": [ { "allele": "G", "end": 1056, "referenceAllele": "A", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286109.1:c.650A>G" ], "proteinEffect": { "hgvs": "NP_001273038.1:p.Glu217Gly", "hgvsWellDefined": "NP_001273038.1:p.Glu217Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS022744" }, { "@id": "http://reg.genome.network/allele/PA2826707198", "coordinates": [ { "allele": "G", "end": 1128, "referenceAllele": "A", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.1:c.722A>G" ], "proteinEffect": { "hgvs": "NP_001273039.1:p.Glu241Gly", "hgvsWellDefined": "NP_001273039.1:p.Glu241Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS022745" }, { "@id": "http://reg.genome.network/allele/PA2573176578", "coordinates": [ { "allele": "G", "end": 1015, "referenceAllele": "A", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.2:c.884A>G" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Glu295Gly", "hgvsWellDefined": "NP_001035897.1:p.Glu295Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS676015", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636147.2:c.884A>G" }, "RefSeq": { "hgvs": "NM_001042432.2:c.884A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490105.1:p.Glu295Gly" }, "RefSeq": { "hgvs": "NP_001035897.1:p.Glu295Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2826704521", "coordinates": [ { "allele": "G", "end": 943, "referenceAllele": "A", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.2:c.812A>G" ], "proteinEffect": { "hgvs": "NP_001273033.1:p.Glu271Gly", "hgvsWellDefined": "NP_001273033.1:p.Glu271Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS682139" }, { "@id": "http://reg.genome.network/allele/PA2826705167", "coordinates": [ { "allele": "G", "end": 1040, "referenceAllele": "A", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286105.2:c.584A>G" ], "proteinEffect": { "hgvs": "NP_001273034.1:p.Glu195Gly", "hgvsWellDefined": "NP_001273034.1:p.Glu195Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS682140" }, { "@id": "http://reg.genome.network/allele/PA2826706164", "coordinates": [ { "allele": "G", "end": 1048, "referenceAllele": "A", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286109.2:c.650A>G" ], "proteinEffect": { "hgvs": "NP_001273038.1:p.Glu217Gly", "hgvsWellDefined": "NP_001273038.1:p.Glu217Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS682141" }, { "@id": "http://reg.genome.network/allele/PA2826707198", "coordinates": [ { "allele": "G", "end": 1120, "referenceAllele": "A", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.2:c.722A>G" ], "proteinEffect": { "hgvs": "NP_001273039.1:p.Glu241Gly", "hgvsWellDefined": "NP_001273039.1:p.Glu241Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS682142" } ], "type": "nucleotide" }