Canonical Allele Identifier: CA395343910

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493430A>C (hg19) ; chr16:g.28482109A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482109A>C , CM000678.2:g.28482109A>C	GRCh38
NC_000016.9:g.28493430A>C , CM000678.1:g.28493430A>C	GRCh37
NC_000016.8:g.28400931A>C	NCBI36
NG_008654.2:g.15194T>G , LRG_689:g.15194T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.980T>G	ENSP00000329171.9:p.Leu327Arg
ENST00000355477.10:c.908T>G	ENSP00000347660.7:p.Leu303Arg
ENST00000357857.14:c.890T>G	ENSP00000350523.9:p.Leu297Arg
ENST00000359984.12:c.1052T>G	ENSP00000353073.9:p.Leu351Arg
ENST00000360019.8:c.980T>G	ENSP00000353116.3:p.Leu327Arg
ENST00000395653.9:c.593T>G	ENSP00000379014.5:p.Leu198Arg
ENST00000561689.6:n.1465T>G
ENST00000564091.6:c.392T>G	ENSP00000454466.2:p.Leu131Arg
ENST00000565316.6:c.1001T>G	ENSP00000456117.1:p.Leu334Arg
ENST00000566824.6:n.1112T>G
ENST00000567963.6:c.890T>G	ENSP00000455387.2:p.Leu297Arg
ENST00000568076.6:n.1481T>G
ENST00000568422.6:c.*289T>G	ENSP00000455549.2:n.*289T>G
ENST00000568452.6:n.1283T>G
ENST00000568497.6:c.83T>G	ENSP00000456414.2:p.Leu28Arg
ENST00000569430.7:c.1052T>G	ENSP00000454229.1:p.Leu351Arg
ENST00000628023.3:c.*348T>G	ENSP00000486178.1:n.*348T>G
ENST00000635861.1:c.*704T>G	ENSP00000490034.1:n.*704T>G
ENST00000635887.1:c.1052T>G	ENSP00000490709.1:p.Leu351Arg
ENST00000635958.1:n.1337T>G
ENST00000635973.1:c.803T>G	ENSP00000490363.1:p.Leu268Arg
ENST00000636017.1:c.*576T>G	ENSP00000490538.1:n.*576T>G
ENST00000636078.1:n.1174T>G
ENST00000636147.2:c.1052T>G MANE Select	ENSP00000490105.1:p.Leu351Arg
ENST00000636172.1:c.*576T>G	ENSP00000490505.1:n.*576T>G
ENST00000636228.1:c.746T>G	ENSP00000489627.1:p.Leu249Arg
ENST00000636351.1:n.946T>G
ENST00000636503.1:c.1052T>G	ENSP00000489824.1:p.Leu351Arg
ENST00000636685.1:n.733T>G
ENST00000636766.1:c.1052T>G	ENSP00000489841.1:p.Leu351Arg
ENST00000636839.1:n.1426T>G
ENST00000636853.1:n.1967T>G
ENST00000636866.1:c.1052T>G	ENSP00000490880.1:p.Leu351Arg
ENST00000636907.1:n.1203T>G
ENST00000636977.1:n.2422T>G
ENST00000637050.1:n.1441T>G
ENST00000637100.1:c.1001T>G	ENSP00000490394.1:p.Leu334Arg
ENST00000637107.1:c.*576T>G	ENSP00000490248.1:n.*576T>G
ENST00000637184.1:c.1052T>G	ENSP00000489952.1:p.Leu351Arg
ENST00000637299.1:c.*861T>G	ENSP00000489823.1:n.*861T>G
ENST00000637376.1:c.1052T>G	ENSP00000490758.1:p.Leu351Arg
ENST00000637378.1:c.224T>G	ENSP00000490831.1:p.Leu75Arg
ENST00000637578.1:c.*576T>G	ENSP00000490206.1:n.*576T>G
ENST00000637699.1:c.963T>G	ENSP00000490049.1:n.963T>G
ENST00000637745.1:c.391T>G
ENST00000637871.1:c.*750T>G	ENSP00000490670.1:n.*750T>G
ENST00000638036.1:c.214T>G
ENST00000333496.13:c.980T>G	ENSP00000329171.9:p.Leu327Arg
ENST00000355477.9:c.*289T>G	ENSP00000347660.6:n.*289T>G
ENST00000357806.11:c.755T>G	ENSP00000350457.7:p.Leu252Arg
ENST00000357857.13:c.890T>G	ENSP00000350523.9:p.Leu297Arg
ENST00000359984.11:c.746T>G	ENSP00000353073.8:p.Leu249Arg
ENST00000360019.6:c.1052T>G	ENSP00000353116.2:p.Leu351Arg
ENST00000395653.8:c.752T>G	ENSP00000379014.4:p.Leu251Arg
ENST00000561689.5:n.1021T>G
ENST00000563874.5:n.2580T>G
ENST00000564091.5:c.141T>G
ENST00000565140.5:c.835T>G	ENSP00000455342.1:n.835T>G
ENST00000565316.5:c.1001T>G	ENSP00000456117.1:p.Leu334Arg
ENST00000565354.5:n.365T>G
ENST00000566057.5:c.666T>G	ENSP00000456693.1:n.666T>G
ENST00000567963.5:c.906+368T>G	ENSP00000455387.1:n.906+368T>G
ENST00000568076.5:n.963T>G
ENST00000568224.4:c.818T>G	ENSP00000454253.1:p.Leu273Arg
ENST00000568422.5:c.*289T>G	ENSP00000455549.1:n.*289T>G
ENST00000568452.5:n.1180T>G
ENST00000569030.5:c.722T>G	ENSP00000454680.1:p.Leu241Arg
ENST00000569430.5:c.1052T>G	ENSP00000454229.1:p.Leu351Arg
ENST00000628023.2:c.*348T>G	ENSP00000486178.1:n.*348T>G
ENST00000631023.2:c.906+368T>G	ENSP00000486616.1:n.906+368T>G
NM_000086.2:c.1052T>G , LRG_689t1:c.1052T>G	NP_000077.1:p.Leu351Arg
NM_001042432.1:c.1052T>G , LRG_689t2:c.1052T>G	NP_001035897.1:p.Leu351Arg
NM_001286104.1:c.980T>G	NP_001273033.1:p.Leu327Arg
NM_001286105.1:c.752T>G	NP_001273034.1:p.Leu251Arg
NM_001286109.1:c.818T>G	NP_001273038.1:p.Leu273Arg
NM_001286110.1:c.890T>G	NP_001273039.1:p.Leu297Arg
NM_001042432.2:c.1052T>G MANE Select	NP_001035897.1:p.Leu351Arg
NM_001286104.2:c.980T>G	NP_001273033.1:p.Leu327Arg
NM_001286105.2:c.752T>G	NP_001273034.1:p.Leu251Arg
NM_001286109.2:c.818T>G	NP_001273038.1:p.Leu273Arg
NM_001286110.2:c.890T>G	NP_001273039.1:p.Leu297Arg