Canonical Allele Identifier: CA395344151

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493479A>C (hg19) ; chr16:g.28482158A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482158A>C , CM000678.2:g.28482158A>C	GRCh38
NC_000016.9:g.28493479A>C , CM000678.1:g.28493479A>C	GRCh37
NC_000016.8:g.28400980A>C	NCBI36
NG_008654.2:g.15145T>G , LRG_689:g.15145T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.931T>G	ENSP00000329171.9:p.Ser311Ala
ENST00000355477.10:c.859T>G	ENSP00000347660.7:p.Ser287Ala
ENST00000357857.14:c.841T>G	ENSP00000350523.9:p.Ser281Ala
ENST00000359984.12:c.1003T>G	ENSP00000353073.9:p.Ser335Ala
ENST00000360019.8:c.931T>G	ENSP00000353116.3:p.Ser311Ala
ENST00000395653.9:c.544T>G	ENSP00000379014.5:p.Ser182Ala
ENST00000561689.6:n.1416T>G
ENST00000564091.6:c.343T>G	ENSP00000454466.2:p.Ser115Ala
ENST00000565316.6:c.952T>G	ENSP00000456117.1:p.Ser318Ala
ENST00000566824.6:n.1063T>G
ENST00000567963.6:c.841T>G	ENSP00000455387.2:p.Ser281Ala
ENST00000568076.6:n.1432T>G
ENST00000568422.6:c.*240T>G	ENSP00000455549.2:n.*240T>G
ENST00000568452.6:n.1234T>G
ENST00000568497.6:c.34T>G	ENSP00000456414.2:p.Ser12Ala
ENST00000569430.7:c.1003T>G	ENSP00000454229.1:p.Ser335Ala
ENST00000628023.3:c.*299T>G	ENSP00000486178.1:n.*299T>G
ENST00000635861.1:c.*655T>G	ENSP00000490034.1:n.*655T>G
ENST00000635887.1:c.1003T>G	ENSP00000490709.1:p.Ser335Ala
ENST00000635958.1:n.1288T>G
ENST00000635973.1:c.754T>G	ENSP00000490363.1:p.Ser252Ala
ENST00000636017.1:c.*527T>G	ENSP00000490538.1:n.*527T>G
ENST00000636078.1:n.1125T>G
ENST00000636147.2:c.1003T>G MANE Select	ENSP00000490105.1:p.Ser335Ala
ENST00000636172.1:c.*527T>G	ENSP00000490505.1:n.*527T>G
ENST00000636228.1:c.697T>G	ENSP00000489627.1:p.Ser233Ala
ENST00000636351.1:n.897T>G
ENST00000636503.1:c.1003T>G	ENSP00000489824.1:p.Ser335Ala
ENST00000636685.1:n.684T>G
ENST00000636766.1:c.1003T>G	ENSP00000489841.1:p.Ser335Ala
ENST00000636839.1:n.1377T>G
ENST00000636853.1:n.1918T>G
ENST00000636866.1:c.1003T>G	ENSP00000490880.1:p.Ser335Ala
ENST00000636907.1:n.1154T>G
ENST00000636977.1:n.2373T>G
ENST00000637050.1:n.1392T>G
ENST00000637100.1:c.952T>G	ENSP00000490394.1:p.Ser318Ala
ENST00000637107.1:c.*527T>G	ENSP00000490248.1:n.*527T>G
ENST00000637184.1:c.1003T>G	ENSP00000489952.1:p.Ser335Ala
ENST00000637299.1:c.*812T>G	ENSP00000489823.1:n.*812T>G
ENST00000637376.1:c.1003T>G	ENSP00000490758.1:p.Ser335Ala
ENST00000637378.1:c.175T>G	ENSP00000490831.1:p.Ser59Ala
ENST00000637578.1:c.*527T>G	ENSP00000490206.1:n.*527T>G
ENST00000637699.1:c.914T>G	ENSP00000490049.1:n.914T>G
ENST00000637745.1:c.342T>G
ENST00000637871.1:c.*701T>G	ENSP00000490670.1:n.*701T>G
ENST00000638036.1:c.165T>G
ENST00000333496.13:c.931T>G	ENSP00000329171.9:p.Ser311Ala
ENST00000355477.9:c.*240T>G	ENSP00000347660.6:n.*240T>G
ENST00000357806.11:c.706T>G	ENSP00000350457.7:p.Ser236Ala
ENST00000357857.13:c.841T>G	ENSP00000350523.9:p.Ser281Ala
ENST00000359984.11:c.697T>G	ENSP00000353073.8:p.Ser233Ala
ENST00000360019.6:c.1003T>G	ENSP00000353116.2:p.Ser335Ala
ENST00000395653.8:c.703T>G	ENSP00000379014.4:p.Ser235Ala
ENST00000561689.5:n.972T>G
ENST00000563874.5:n.2531T>G
ENST00000564091.5:c.92T>G
ENST00000565140.5:c.786T>G	ENSP00000455342.1:n.786T>G
ENST00000565316.5:c.952T>G	ENSP00000456117.1:p.Ser318Ala
ENST00000565354.5:n.316T>G
ENST00000566057.5:c.617T>G	ENSP00000456693.1:n.617T>G
ENST00000567963.5:c.906+319T>G	ENSP00000455387.1:n.906+319T>G
ENST00000568076.5:n.914T>G
ENST00000568224.4:c.769T>G	ENSP00000454253.1:p.Ser257Ala
ENST00000568422.5:c.*240T>G	ENSP00000455549.1:n.*240T>G
ENST00000568452.5:n.1131T>G
ENST00000568558.5:c.544T>G	ENSP00000455603.1:p.Ser182Ala
ENST00000569030.5:c.673T>G	ENSP00000454680.1:p.Ser225Ala
ENST00000569430.5:c.1003T>G	ENSP00000454229.1:p.Ser335Ala
ENST00000628023.2:c.*299T>G	ENSP00000486178.1:n.*299T>G
ENST00000631023.2:c.906+319T>G	ENSP00000486616.1:n.906+319T>G
NM_000086.2:c.1003T>G , LRG_689t1:c.1003T>G	NP_000077.1:p.Ser335Ala
NM_001042432.1:c.1003T>G , LRG_689t2:c.1003T>G	NP_001035897.1:p.Ser335Ala
NM_001286104.1:c.931T>G	NP_001273033.1:p.Ser311Ala
NM_001286105.1:c.703T>G	NP_001273034.1:p.Ser235Ala
NM_001286109.1:c.769T>G	NP_001273038.1:p.Ser257Ala
NM_001286110.1:c.841T>G	NP_001273039.1:p.Ser281Ala
NM_001042432.2:c.1003T>G MANE Select	NP_001035897.1:p.Ser335Ala
NM_001286104.2:c.931T>G	NP_001273033.1:p.Ser311Ala
NM_001286105.2:c.703T>G	NP_001273034.1:p.Ser235Ala
NM_001286109.2:c.769T>G	NP_001273038.1:p.Ser257Ala
NM_001286110.2:c.841T>G	NP_001273039.1:p.Ser281Ala