Canonical Allele Identifier: CA395344716

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28495339C>T (hg19) ; chr16:g.28484018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484018C>T , CM000678.2:g.28484018C>T	GRCh38
NC_000016.9:g.28495339C>T , CM000678.1:g.28495339C>T	GRCh37
NC_000016.8:g.28402840C>T	NCBI36
NG_008654.2:g.13285G>A , LRG_689:g.13285G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.706G>A	ENSP00000329171.9:p.Glu236Lys
ENST00000355477.10:c.634G>A	ENSP00000347660.7:p.Glu212Lys
ENST00000357857.14:c.616G>A	ENSP00000350523.9:p.Glu206Lys
ENST00000359984.12:c.778G>A	ENSP00000353073.9:p.Glu260Lys
ENST00000360019.8:c.706G>A	ENSP00000353116.3:p.Glu236Lys
ENST00000395653.9:c.319G>A	ENSP00000379014.5:p.Glu107Lys
ENST00000561689.6:n.1063G>A
ENST00000564091.6:c.118G>A	ENSP00000454466.2:p.Glu40Lys
ENST00000565316.6:c.778G>A	ENSP00000456117.1:p.Glu260Lys
ENST00000565778.6:c.409G>A	ENSP00000458015.1:p.Glu137Lys
ENST00000566083.6:n.1236G>A
ENST00000566824.6:n.758G>A
ENST00000567963.6:c.616G>A	ENSP00000455387.2:p.Glu206Lys
ENST00000568076.6:n.905G>A
ENST00000568422.6:c.*15G>A	ENSP00000455549.2:n.*15G>A
ENST00000568452.6:n.881G>A
ENST00000568472.6:n.654G>A
ENST00000568497.6:c.-192G>A	ENSP00000456414.2:n.-192G>A
ENST00000568558.6:c.481G>A	ENSP00000455603.2:p.Glu161Lys
ENST00000569430.7:c.778G>A	ENSP00000454229.1:p.Glu260Lys
ENST00000628023.3:c.*74G>A	ENSP00000486178.1:n.*74G>A
ENST00000635861.1:c.*302G>A	ENSP00000490034.1:n.*302G>A
ENST00000635887.1:c.778G>A	ENSP00000490709.1:p.Glu260Lys
ENST00000635958.1:n.889G>A
ENST00000635973.1:c.529G>A	ENSP00000490363.1:p.Glu177Lys
ENST00000636017.1:c.*302G>A	ENSP00000490538.1:n.*302G>A
ENST00000636078.1:n.820G>A
ENST00000636147.2:c.778G>A MANE Select	ENSP00000490105.1:p.Glu260Lys
ENST00000636172.1:c.*302G>A	ENSP00000490505.1:n.*302G>A
ENST00000636228.1:c.472G>A	ENSP00000489627.1:p.Glu158Lys
ENST00000636351.1:n.498G>A
ENST00000636503.1:c.778G>A	ENSP00000489824.1:p.Glu260Lys
ENST00000636685.1:n.285G>A
ENST00000636766.1:c.778G>A	ENSP00000489841.1:p.Glu260Lys
ENST00000636839.1:n.930G>A
ENST00000636853.1:n.1693G>A
ENST00000636866.1:c.778G>A	ENSP00000490880.1:p.Glu260Lys
ENST00000636907.1:n.929G>A
ENST00000636977.1:n.1846G>A
ENST00000637050.1:n.865G>A
ENST00000637100.1:c.778G>A	ENSP00000490394.1:p.Glu260Lys
ENST00000637107.1:c.*302G>A	ENSP00000490248.1:n.*302G>A
ENST00000637184.1:c.778G>A	ENSP00000489952.1:p.Glu260Lys
ENST00000637299.1:c.*587G>A	ENSP00000489823.1:n.*587G>A
ENST00000637376.1:c.778G>A	ENSP00000490758.1:p.Glu260Lys
ENST00000637578.1:c.*302G>A	ENSP00000490206.1:n.*302G>A
ENST00000637699.1:c.561G>A	ENSP00000490049.1:n.561G>A
ENST00000637745.1:c.117G>A
ENST00000637871.1:c.*302G>A	ENSP00000490670.1:n.*302G>A
ENST00000333496.13:c.706G>A	ENSP00000329171.9:p.Glu236Lys
ENST00000355477.9:c.*15G>A	ENSP00000347660.6:n.*15G>A
ENST00000357806.11:c.481G>A	ENSP00000350457.7:p.Glu161Lys
ENST00000357857.13:c.616G>A	ENSP00000350523.9:p.Glu206Lys
ENST00000359984.11:c.472G>A	ENSP00000353073.8:p.Glu158Lys
ENST00000360019.6:c.778G>A	ENSP00000353116.2:p.Glu260Lys
ENST00000395653.8:c.478G>A	ENSP00000379014.4:p.Glu160Lys
ENST00000561689.5:n.619G>A
ENST00000563874.5:n.2132G>A
ENST00000564574.5:n.826G>A
ENST00000565047.1:n.372G>A
ENST00000565140.5:c.561G>A	ENSP00000455342.1:n.561G>A
ENST00000565316.5:c.778G>A	ENSP00000456117.1:p.Glu260Lys
ENST00000565688.5:c.529G>A
ENST00000565778.5:c.409G>A	ENSP00000458015.1:p.Glu137Lys
ENST00000566057.5:c.392G>A	ENSP00000456693.1:n.392G>A
ENST00000566083.5:n.1009G>A
ENST00000566824.5:n.827G>A
ENST00000567495.5:c.*15G>A	ENSP00000456013.1:n.*15G>A
ENST00000567963.5:c.778G>A	ENSP00000455387.1:p.Glu260Lys
ENST00000568076.5:n.561G>A
ENST00000568224.4:c.544G>A	ENSP00000454253.1:p.Glu182Lys
ENST00000568422.5:c.*15G>A	ENSP00000455549.1:n.*15G>A
ENST00000568452.5:n.778G>A
ENST00000568472.5:n.258G>A
ENST00000568497.5:c.*74G>A	ENSP00000456414.1:n.*74G>A
ENST00000568558.5:c.319G>A	ENSP00000455603.1:p.Glu107Lys
ENST00000569030.5:c.461-1346G>A	ENSP00000454680.1:n.461-1346G>A
ENST00000569430.5:c.778G>A	ENSP00000454229.1:p.Glu260Lys
ENST00000628023.2:c.*74G>A	ENSP00000486178.1:n.*74G>A
ENST00000631023.2:c.778G>A	ENSP00000486616.1:p.Glu260Lys
NM_000086.2:c.778G>A , LRG_689t1:c.778G>A	NP_000077.1:p.Glu260Lys
NM_001042432.1:c.778G>A , LRG_689t2:c.778G>A	NP_001035897.1:p.Glu260Lys
NM_001286104.1:c.706G>A	NP_001273033.1:p.Glu236Lys
NM_001286105.1:c.478G>A	NP_001273034.1:p.Glu160Lys
NM_001286109.1:c.544G>A	NP_001273038.1:p.Glu182Lys
NM_001286110.1:c.616G>A	NP_001273039.1:p.Glu206Lys
NM_001042432.2:c.778G>A MANE Select	NP_001035897.1:p.Glu260Lys
NM_001286104.2:c.706G>A	NP_001273033.1:p.Glu236Lys
NM_001286105.2:c.478G>A	NP_001273034.1:p.Glu160Lys
NM_001286109.2:c.544G>A	NP_001273038.1:p.Glu182Lys
NM_001286110.2:c.616G>A	NP_001273039.1:p.Glu206Lys