Canonical Allele Identifier: CA395341648
Community Standard Title: NM_001042432.2(CLN3):c.1305C>G (p.Cys435Trp)
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28477528G>C , CM000678.2:g.28477528G>C GRCh38
NC_000016.9:g.28488849G>C , CM000678.1:g.28488849G>C GRCh37
NC_000016.8:g.28396350G>C NCBI36
NG_008654.2:g.19775C>G , LRG_689:g.19775C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001042432.2:c.1305C>G MANE Select NP_001035897.1:p.Cys435Trp
ENST00000636147.2:c.1305C>G MANE Select ENSP00000490105.1:p.Cys435Trp
NM_000086.2:c.1305C>G , LRG_689t1:c.1305C>G NP_000077.1:p.Cys435Trp
NM_001042432.1:c.1305C>G , LRG_689t2:c.1305C>G NP_001035897.1:p.Cys435Trp
NM_001286104.1:c.1233C>G NP_001273033.1:p.Cys411Trp
NM_001286104.2:c.1233C>G NP_001273033.1:p.Cys411Trp
NM_001286105.1:c.1005C>G NP_001273034.1:p.Cys335Trp
NM_001286105.2:c.1005C>G NP_001273034.1:p.Cys335Trp
NM_001286109.1:c.1071C>G NP_001273038.1:p.Cys357Trp
NM_001286109.2:c.1071C>G NP_001273038.1:p.Cys357Trp
NM_001286110.1:c.1143C>G NP_001273039.1:p.Cys381Trp
NM_001286110.2:c.1143C>G NP_001273039.1:p.Cys381Trp
ENST00000333496.13:c.1233C>G ENSP00000329171.9:p.Cys411Trp
ENST00000333496.14:c.1233C>G ENSP00000329171.9:p.Cys411Trp
ENST00000355477.10:c.1161C>G ENSP00000347660.7:p.Cys387Trp
ENST00000355477.9:c.*542C>G ENSP00000347660.6:n.*542C>G
ENST00000357806.11:c.1008C>G ENSP00000350457.7:p.Cys336Trp
ENST00000357857.13:c.1143C>G ENSP00000350523.9:p.Cys381Trp
ENST00000357857.14:c.1143C>G ENSP00000350523.9:p.Cys381Trp
ENST00000359984.11:c.999C>G ENSP00000353073.8:p.Cys333Trp
ENST00000359984.12:c.1305C>G ENSP00000353073.9:p.Cys435Trp
ENST00000360019.6:c.1305C>G ENSP00000353116.2:p.Cys435Trp
ENST00000360019.8:c.1233C>G ENSP00000353116.3:p.Cys411Trp
ENST00000395653.8:c.1005C>G ENSP00000379014.4:p.Cys335Trp
ENST00000395653.9:c.846C>G ENSP00000379014.5:p.Cys282Trp
ENST00000561689.5:n.1274C>G
ENST00000561689.6:n.1718C>G
ENST00000563874.5:n.2833C>G
ENST00000564091.5:c.394C>G
ENST00000564091.6:c.645C>G ENSP00000454466.2:p.Cys215Trp
ENST00000565140.5:c.1213C>G ENSP00000455342.1:n.1213C>G
ENST00000565316.5:c.1254C>G ENSP00000456117.1:p.Cys418Trp
ENST00000565316.6:c.1254C>G ENSP00000456117.1:p.Cys418Trp
ENST00000565354.5:n.618C>G
ENST00000566057.5:c.919C>G ENSP00000456693.1:n.919C>G
ENST00000567963.5:c.1014C>G ENSP00000455387.1:p.Cys338Trp
ENST00000567963.6:c.1143C>G ENSP00000455387.2:p.Cys381Trp
ENST00000568076.5:n.1216C>G
ENST00000568076.6:n.1734C>G
ENST00000568224.4:c.1071C>G ENSP00000454253.1:p.Cys357Trp
ENST00000568422.5:c.*542C>G ENSP00000455549.1:n.*542C>G
ENST00000568422.6:c.*542C>G ENSP00000455549.2:n.*542C>G
ENST00000568452.5:n.1433C>G
ENST00000568452.6:n.1536C>G
ENST00000569030.5:c.1097C>G ENSP00000454680.1:n.1097C>G
ENST00000569430.5:c.1305C>G ENSP00000454229.1:p.Cys435Trp
ENST00000569430.7:c.1305C>G ENSP00000454229.1:p.Cys435Trp
ENST00000628023.2:c.*601C>G ENSP00000486178.1:n.*601C>G
ENST00000628023.3:c.*601C>G ENSP00000486178.1:n.*601C>G
ENST00000631023.2:c.1014C>G ENSP00000486616.1:p.Cys338Trp
ENST00000635861.1:c.*957C>G ENSP00000490034.1:n.*957C>G
ENST00000635887.1:c.1305C>G ENSP00000490709.1:p.Cys435Trp
ENST00000635958.1:n.1712C>G
ENST00000636017.1:c.*829C>G ENSP00000490538.1:n.*829C>G
ENST00000636078.1:n.1427C>G
ENST00000636172.1:c.*829C>G ENSP00000490505.1:n.*829C>G
ENST00000636228.1:c.999C>G ENSP00000489627.1:p.Cys333Trp
ENST00000636351.1:n.1199C>G
ENST00000636503.1:c.*335C>G ENSP00000489824.1:n.*335C>G
ENST00000636766.1:c.1305C>G ENSP00000489841.1:p.Cys435Trp
ENST00000636839.1:n.1801C>G
ENST00000636866.1:c.*100C>G ENSP00000490880.1:n.*100C>G
ENST00000636907.1:n.1456C>G
ENST00000636977.1:n.2797C>G
ENST00000637100.1:c.1006-3266C>G ENSP00000490394.1:n.1006-3266C>G
ENST00000637107.1:c.*829C>G ENSP00000490248.1:n.*829C>G
ENST00000637184.1:c.*335C>G ENSP00000489952.1:n.*335C>G
ENST00000637299.1:c.*1114C>G ENSP00000489823.1:n.*1114C>G
ENST00000637376.1:c.*335C>G ENSP00000490758.1:n.*335C>G
ENST00000637378.1:c.228+4577C>G ENSP00000490831.1:n.228+4577C>G
ENST00000637578.1:c.*829C>G ENSP00000490206.1:n.*829C>G
ENST00000637699.1:c.1216C>G ENSP00000490049.1:n.1216C>G
ENST00000637745.1:c.742C>G
ENST00000637871.1:c.*1003C>G ENSP00000490670.1:n.*1003C>G
ENST00000638036.1:c.467C>G