Canonical Allele Identifier: CA395344158

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493482G>C (hg19) ; chr16:g.28482161G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482161G>C , CM000678.2:g.28482161G>C	GRCh38
NC_000016.9:g.28493482G>C , CM000678.1:g.28493482G>C	GRCh37
NC_000016.8:g.28400983G>C	NCBI36
NG_008654.2:g.15142C>G , LRG_689:g.15142C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.928C>G	ENSP00000329171.9:p.Arg310Gly
ENST00000355477.10:c.856C>G	ENSP00000347660.7:p.Arg286Gly
ENST00000357857.14:c.838C>G	ENSP00000350523.9:p.Arg280Gly
ENST00000359984.12:c.1000C>G	ENSP00000353073.9:p.Arg334Gly
ENST00000360019.8:c.928C>G	ENSP00000353116.3:p.Arg310Gly
ENST00000395653.9:c.541C>G	ENSP00000379014.5:p.Arg181Gly
ENST00000561689.6:n.1413C>G
ENST00000564091.6:c.340C>G	ENSP00000454466.2:p.Arg114Gly
ENST00000565316.6:c.949C>G	ENSP00000456117.1:p.Arg317Gly
ENST00000566824.6:n.1060C>G
ENST00000567963.6:c.838C>G	ENSP00000455387.2:p.Arg280Gly
ENST00000568076.6:n.1429C>G
ENST00000568422.6:c.*237C>G	ENSP00000455549.2:n.*237C>G
ENST00000568452.6:n.1231C>G
ENST00000568497.6:c.31C>G	ENSP00000456414.2:p.Arg11Gly
ENST00000569430.7:c.1000C>G	ENSP00000454229.1:p.Arg334Gly
ENST00000628023.3:c.*296C>G	ENSP00000486178.1:n.*296C>G
ENST00000635861.1:c.*652C>G	ENSP00000490034.1:n.*652C>G
ENST00000635887.1:c.1000C>G	ENSP00000490709.1:p.Arg334Gly
ENST00000635958.1:n.1285C>G
ENST00000635973.1:c.751C>G	ENSP00000490363.1:p.Arg251Gly
ENST00000636017.1:c.*524C>G	ENSP00000490538.1:n.*524C>G
ENST00000636078.1:n.1122C>G
ENST00000636147.2:c.1000C>G MANE Select	ENSP00000490105.1:p.Arg334Gly
ENST00000636172.1:c.*524C>G	ENSP00000490505.1:n.*524C>G
ENST00000636228.1:c.694C>G	ENSP00000489627.1:p.Arg232Gly
ENST00000636351.1:n.894C>G
ENST00000636503.1:c.1000C>G	ENSP00000489824.1:p.Arg334Gly
ENST00000636685.1:n.681C>G
ENST00000636766.1:c.1000C>G	ENSP00000489841.1:p.Arg334Gly
ENST00000636839.1:n.1374C>G
ENST00000636853.1:n.1915C>G
ENST00000636866.1:c.1000C>G	ENSP00000490880.1:p.Arg334Gly
ENST00000636907.1:n.1151C>G
ENST00000636977.1:n.2370C>G
ENST00000637050.1:n.1389C>G
ENST00000637100.1:c.949C>G	ENSP00000490394.1:p.Arg317Gly
ENST00000637107.1:c.*524C>G	ENSP00000490248.1:n.*524C>G
ENST00000637184.1:c.1000C>G	ENSP00000489952.1:p.Arg334Gly
ENST00000637299.1:c.*809C>G	ENSP00000489823.1:n.*809C>G
ENST00000637376.1:c.1000C>G	ENSP00000490758.1:p.Arg334Gly
ENST00000637378.1:c.172C>G	ENSP00000490831.1:p.Arg58Gly
ENST00000637578.1:c.*524C>G	ENSP00000490206.1:n.*524C>G
ENST00000637699.1:c.911C>G	ENSP00000490049.1:n.911C>G
ENST00000637745.1:c.339C>G
ENST00000637871.1:c.*698C>G	ENSP00000490670.1:n.*698C>G
ENST00000638036.1:c.162C>G
ENST00000333496.13:c.928C>G	ENSP00000329171.9:p.Arg310Gly
ENST00000355477.9:c.*237C>G	ENSP00000347660.6:n.*237C>G
ENST00000357806.11:c.703C>G	ENSP00000350457.7:p.Arg235Gly
ENST00000357857.13:c.838C>G	ENSP00000350523.9:p.Arg280Gly
ENST00000359984.11:c.694C>G	ENSP00000353073.8:p.Arg232Gly
ENST00000360019.6:c.1000C>G	ENSP00000353116.2:p.Arg334Gly
ENST00000395653.8:c.700C>G	ENSP00000379014.4:p.Arg234Gly
ENST00000561689.5:n.969C>G
ENST00000563874.5:n.2528C>G
ENST00000564091.5:c.89C>G
ENST00000565140.5:c.783C>G	ENSP00000455342.1:n.783C>G
ENST00000565316.5:c.949C>G	ENSP00000456117.1:p.Arg317Gly
ENST00000565354.5:n.313C>G
ENST00000566057.5:c.614C>G	ENSP00000456693.1:n.614C>G
ENST00000567963.5:c.906+316C>G	ENSP00000455387.1:n.906+316C>G
ENST00000568076.5:n.911C>G
ENST00000568224.4:c.766C>G	ENSP00000454253.1:p.Arg256Gly
ENST00000568422.5:c.*237C>G	ENSP00000455549.1:n.*237C>G
ENST00000568452.5:n.1128C>G
ENST00000568558.5:c.541C>G	ENSP00000455603.1:p.Arg181Gly
ENST00000569030.5:c.670C>G	ENSP00000454680.1:p.Arg224Gly
ENST00000569430.5:c.1000C>G	ENSP00000454229.1:p.Arg334Gly
ENST00000628023.2:c.*296C>G	ENSP00000486178.1:n.*296C>G
ENST00000631023.2:c.906+316C>G	ENSP00000486616.1:n.906+316C>G
NM_000086.2:c.1000C>G , LRG_689t1:c.1000C>G	NP_000077.1:p.Arg334Gly
NM_001042432.1:c.1000C>G , LRG_689t2:c.1000C>G	NP_001035897.1:p.Arg334Gly
NM_001286104.1:c.928C>G	NP_001273033.1:p.Arg310Gly
NM_001286105.1:c.700C>G	NP_001273034.1:p.Arg234Gly
NM_001286109.1:c.766C>G	NP_001273038.1:p.Arg256Gly
NM_001286110.1:c.838C>G	NP_001273039.1:p.Arg280Gly
NM_001042432.2:c.1000C>G MANE Select	NP_001035897.1:p.Arg334Gly
NM_001286104.2:c.928C>G	NP_001273033.1:p.Arg310Gly
NM_001286105.2:c.700C>G	NP_001273034.1:p.Arg234Gly
NM_001286109.2:c.766C>G	NP_001273038.1:p.Arg256Gly
NM_001286110.2:c.838C>G	NP_001273039.1:p.Arg280Gly