Canonical Allele Identifier: CA395344787

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28495371G>T (hg19) ; chr16:g.28484050G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484050G>T , CM000678.2:g.28484050G>T	GRCh38
NC_000016.9:g.28495371G>T , CM000678.1:g.28495371G>T	GRCh37
NC_000016.8:g.28402872G>T	NCBI36
NG_008654.2:g.13253C>A , LRG_689:g.13253C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.674C>A	ENSP00000329171.9:p.Ala225Asp
ENST00000355477.10:c.602C>A	ENSP00000347660.7:p.Ala201Asp
ENST00000357857.14:c.584C>A	ENSP00000350523.9:p.Ala195Asp
ENST00000359984.12:c.746C>A	ENSP00000353073.9:p.Ala249Asp
ENST00000360019.8:c.674C>A	ENSP00000353116.3:p.Ala225Asp
ENST00000395653.9:c.287C>A	ENSP00000379014.5:p.Ala96Asp
ENST00000561689.6:n.1031C>A
ENST00000564091.6:c.86C>A	ENSP00000454466.2:p.Ala29Asp
ENST00000565316.6:c.746C>A	ENSP00000456117.1:p.Ala249Asp
ENST00000565778.6:c.377C>A	ENSP00000458015.1:p.Ala126Asp
ENST00000566083.6:n.1204C>A
ENST00000566824.6:n.726C>A
ENST00000567963.6:c.584C>A	ENSP00000455387.2:p.Ala195Asp
ENST00000568076.6:n.873C>A
ENST00000568422.6:c.529C>A	ENSP00000455549.2:p.Pro177Thr
ENST00000568452.6:n.849C>A
ENST00000568472.6:n.622C>A
ENST00000568497.6:c.-224C>A	ENSP00000456414.2:n.-224C>A
ENST00000568558.6:c.449C>A	ENSP00000455603.2:p.Ala150Asp
ENST00000569430.7:c.746C>A	ENSP00000454229.1:p.Ala249Asp
ENST00000628023.3:c.*42C>A	ENSP00000486178.1:n.*42C>A
ENST00000635861.1:c.*270C>A	ENSP00000490034.1:n.*270C>A
ENST00000635887.1:c.746C>A	ENSP00000490709.1:p.Ala249Asp
ENST00000635958.1:n.857C>A
ENST00000635973.1:c.497C>A	ENSP00000490363.1:p.Ala166Asp
ENST00000636017.1:c.*270C>A	ENSP00000490538.1:n.*270C>A
ENST00000636078.1:n.788C>A
ENST00000636147.2:c.746C>A MANE Select	ENSP00000490105.1:p.Ala249Asp
ENST00000636172.1:c.*270C>A	ENSP00000490505.1:n.*270C>A
ENST00000636228.1:c.440C>A	ENSP00000489627.1:p.Ala147Asp
ENST00000636351.1:n.466C>A
ENST00000636503.1:c.746C>A	ENSP00000489824.1:p.Ala249Asp
ENST00000636685.1:n.253C>A
ENST00000636766.1:c.746C>A	ENSP00000489841.1:p.Ala249Asp
ENST00000636839.1:n.898C>A
ENST00000636853.1:n.1661C>A
ENST00000636866.1:c.746C>A	ENSP00000490880.1:p.Ala249Asp
ENST00000636907.1:n.897C>A
ENST00000636977.1:n.1814C>A
ENST00000637050.1:n.833C>A
ENST00000637100.1:c.746C>A	ENSP00000490394.1:p.Ala249Asp
ENST00000637107.1:c.*270C>A	ENSP00000490248.1:n.*270C>A
ENST00000637184.1:c.746C>A	ENSP00000489952.1:p.Ala249Asp
ENST00000637299.1:c.*555C>A	ENSP00000489823.1:n.*555C>A
ENST00000637376.1:c.746C>A	ENSP00000490758.1:p.Ala249Asp
ENST00000637578.1:c.*270C>A	ENSP00000490206.1:n.*270C>A
ENST00000637699.1:c.529C>A	ENSP00000490049.1:p.Pro177Thr
ENST00000637745.1:c.85C>A
ENST00000637871.1:c.*270C>A	ENSP00000490670.1:n.*270C>A
ENST00000333496.13:c.674C>A	ENSP00000329171.9:p.Ala225Asp
ENST00000355477.9:c.529C>A	ENSP00000347660.6:p.Pro177Thr
ENST00000357806.11:c.449C>A	ENSP00000350457.7:p.Ala150Asp
ENST00000357857.13:c.584C>A	ENSP00000350523.9:p.Ala195Asp
ENST00000359984.11:c.440C>A	ENSP00000353073.8:p.Ala147Asp
ENST00000360019.6:c.746C>A	ENSP00000353116.2:p.Ala249Asp
ENST00000395653.8:c.446C>A	ENSP00000379014.4:p.Ala149Asp
ENST00000561689.5:n.587C>A
ENST00000563874.5:n.2100C>A
ENST00000564574.5:n.794C>A
ENST00000565047.1:n.340C>A
ENST00000565140.5:c.529C>A	ENSP00000455342.1:p.Pro177Thr
ENST00000565316.5:c.746C>A	ENSP00000456117.1:p.Ala249Asp
ENST00000565688.5:c.497C>A	ENSP00000456122.1:p.Ala166Asp
ENST00000565778.5:c.377C>A	ENSP00000458015.1:p.Ala126Asp
ENST00000566057.5:c.360C>A	ENSP00000456693.1:n.360C>A
ENST00000566083.5:n.977C>A
ENST00000566824.5:n.795C>A
ENST00000567495.5:c.529C>A	ENSP00000456013.1:p.Pro177Thr
ENST00000567963.5:c.746C>A	ENSP00000455387.1:p.Ala249Asp
ENST00000568076.5:n.529C>A
ENST00000568224.4:c.512C>A	ENSP00000454253.1:p.Ala171Asp
ENST00000568422.5:c.382C>A	ENSP00000455549.1:p.Pro128Thr
ENST00000568452.5:n.746C>A
ENST00000568472.5:n.226C>A
ENST00000568497.5:c.*42C>A	ENSP00000456414.1:n.*42C>A
ENST00000568558.5:c.287C>A	ENSP00000455603.1:p.Ala96Asp
ENST00000569030.5:c.461-1378C>A	ENSP00000454680.1:n.461-1378C>A
ENST00000569430.5:c.746C>A	ENSP00000454229.1:p.Ala249Asp
ENST00000628023.2:c.*42C>A	ENSP00000486178.1:n.*42C>A
ENST00000631023.2:c.746C>A	ENSP00000486616.1:p.Ala249Asp
NM_000086.2:c.746C>A , LRG_689t1:c.746C>A	NP_000077.1:p.Ala249Asp
NM_001042432.1:c.746C>A , LRG_689t2:c.746C>A	NP_001035897.1:p.Ala249Asp
NM_001286104.1:c.674C>A	NP_001273033.1:p.Ala225Asp
NM_001286105.1:c.446C>A	NP_001273034.1:p.Ala149Asp
NM_001286109.1:c.512C>A	NP_001273038.1:p.Ala171Asp
NM_001286110.1:c.584C>A	NP_001273039.1:p.Ala195Asp
NM_001042432.2:c.746C>A MANE Select	NP_001035897.1:p.Ala249Asp
NM_001286104.2:c.674C>A	NP_001273033.1:p.Ala225Asp
NM_001286105.2:c.446C>A	NP_001273034.1:p.Ala149Asp
NM_001286109.2:c.512C>A	NP_001273038.1:p.Ala171Asp
NM_001286110.2:c.584C>A	NP_001273039.1:p.Ala195Asp