Canonical Allele Identifier: CA395344712

Gene: CLN3

Linked Data

• gnomAD v4: 16-28484017-T-C
• MyVariant Identifiers: chr16:g.28495338T>C (hg19) ; chr16:g.28484017T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484017T>C , CM000678.2:g.28484017T>C	GRCh38
NC_000016.9:g.28495338T>C , CM000678.1:g.28495338T>C	GRCh37
NC_000016.8:g.28402839T>C	NCBI36
NG_008654.2:g.13286A>G , LRG_689:g.13286A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.707A>G	ENSP00000329171.9:p.Glu236Gly
ENST00000355477.10:c.635A>G	ENSP00000347660.7:p.Glu212Gly
ENST00000357857.14:c.617A>G	ENSP00000350523.9:p.Glu206Gly
ENST00000359984.12:c.779A>G	ENSP00000353073.9:p.Glu260Gly
ENST00000360019.8:c.707A>G	ENSP00000353116.3:p.Glu236Gly
ENST00000395653.9:c.320A>G	ENSP00000379014.5:p.Glu107Gly
ENST00000561689.6:n.1064A>G
ENST00000564091.6:c.119A>G	ENSP00000454466.2:p.Glu40Gly
ENST00000565316.6:c.779A>G	ENSP00000456117.1:p.Glu260Gly
ENST00000565778.6:c.410A>G	ENSP00000458015.1:p.Glu137Gly
ENST00000566083.6:n.1237A>G
ENST00000566824.6:n.759A>G
ENST00000567963.6:c.617A>G	ENSP00000455387.2:p.Glu206Gly
ENST00000568076.6:n.906A>G
ENST00000568422.6:c.*16A>G	ENSP00000455549.2:n.*16A>G
ENST00000568452.6:n.882A>G
ENST00000568472.6:n.655A>G
ENST00000568497.6:c.-191A>G	ENSP00000456414.2:n.-191A>G
ENST00000568558.6:c.482A>G	ENSP00000455603.2:p.Glu161Gly
ENST00000569430.7:c.779A>G	ENSP00000454229.1:p.Glu260Gly
ENST00000628023.3:c.*75A>G	ENSP00000486178.1:n.*75A>G
ENST00000635861.1:c.*303A>G	ENSP00000490034.1:n.*303A>G
ENST00000635887.1:c.779A>G	ENSP00000490709.1:p.Glu260Gly
ENST00000635958.1:n.890A>G
ENST00000635973.1:c.530A>G	ENSP00000490363.1:p.Glu177Gly
ENST00000636017.1:c.*303A>G	ENSP00000490538.1:n.*303A>G
ENST00000636078.1:n.821A>G
ENST00000636147.2:c.779A>G MANE Select	ENSP00000490105.1:p.Glu260Gly
ENST00000636172.1:c.*303A>G	ENSP00000490505.1:n.*303A>G
ENST00000636228.1:c.473A>G	ENSP00000489627.1:p.Glu158Gly
ENST00000636351.1:n.499A>G
ENST00000636503.1:c.779A>G	ENSP00000489824.1:p.Glu260Gly
ENST00000636685.1:n.286A>G
ENST00000636766.1:c.779A>G	ENSP00000489841.1:p.Glu260Gly
ENST00000636839.1:n.931A>G
ENST00000636853.1:n.1694A>G
ENST00000636866.1:c.779A>G	ENSP00000490880.1:p.Glu260Gly
ENST00000636907.1:n.930A>G
ENST00000636977.1:n.1847A>G
ENST00000637050.1:n.866A>G
ENST00000637100.1:c.779A>G	ENSP00000490394.1:p.Glu260Gly
ENST00000637107.1:c.*303A>G	ENSP00000490248.1:n.*303A>G
ENST00000637184.1:c.779A>G	ENSP00000489952.1:p.Glu260Gly
ENST00000637299.1:c.*588A>G	ENSP00000489823.1:n.*588A>G
ENST00000637376.1:c.779A>G	ENSP00000490758.1:p.Glu260Gly
ENST00000637578.1:c.*303A>G	ENSP00000490206.1:n.*303A>G
ENST00000637699.1:c.562A>G	ENSP00000490049.1:n.562A>G
ENST00000637745.1:c.118A>G
ENST00000637871.1:c.*303A>G	ENSP00000490670.1:n.*303A>G
ENST00000333496.13:c.707A>G	ENSP00000329171.9:p.Glu236Gly
ENST00000355477.9:c.*16A>G	ENSP00000347660.6:n.*16A>G
ENST00000357806.11:c.482A>G	ENSP00000350457.7:p.Glu161Gly
ENST00000357857.13:c.617A>G	ENSP00000350523.9:p.Glu206Gly
ENST00000359984.11:c.473A>G	ENSP00000353073.8:p.Glu158Gly
ENST00000360019.6:c.779A>G	ENSP00000353116.2:p.Glu260Gly
ENST00000395653.8:c.479A>G	ENSP00000379014.4:p.Glu160Gly
ENST00000561689.5:n.620A>G
ENST00000563874.5:n.2133A>G
ENST00000564574.5:n.827A>G
ENST00000565047.1:n.373A>G
ENST00000565140.5:c.562A>G	ENSP00000455342.1:n.562A>G
ENST00000565316.5:c.779A>G	ENSP00000456117.1:p.Glu260Gly
ENST00000565688.5:c.530A>G
ENST00000565778.5:c.410A>G	ENSP00000458015.1:p.Glu137Gly
ENST00000566057.5:c.393A>G	ENSP00000456693.1:n.393A>G
ENST00000566083.5:n.1010A>G
ENST00000566824.5:n.828A>G
ENST00000567495.5:c.*16A>G	ENSP00000456013.1:n.*16A>G
ENST00000567963.5:c.779A>G	ENSP00000455387.1:p.Glu260Gly
ENST00000568076.5:n.562A>G
ENST00000568224.4:c.545A>G	ENSP00000454253.1:p.Glu182Gly
ENST00000568422.5:c.*16A>G	ENSP00000455549.1:n.*16A>G
ENST00000568452.5:n.779A>G
ENST00000568472.5:n.259A>G
ENST00000568497.5:c.*75A>G	ENSP00000456414.1:n.*75A>G
ENST00000568558.5:c.320A>G	ENSP00000455603.1:p.Glu107Gly
ENST00000569030.5:c.461-1345A>G	ENSP00000454680.1:n.461-1345A>G
ENST00000569430.5:c.779A>G	ENSP00000454229.1:p.Glu260Gly
ENST00000628023.2:c.*75A>G	ENSP00000486178.1:n.*75A>G
ENST00000631023.2:c.779A>G	ENSP00000486616.1:p.Glu260Gly
NM_000086.2:c.779A>G , LRG_689t1:c.779A>G	NP_000077.1:p.Glu260Gly
NM_001042432.1:c.779A>G , LRG_689t2:c.779A>G	NP_001035897.1:p.Glu260Gly
NM_001286104.1:c.707A>G	NP_001273033.1:p.Glu236Gly
NM_001286105.1:c.479A>G	NP_001273034.1:p.Glu160Gly
NM_001286109.1:c.545A>G	NP_001273038.1:p.Glu182Gly
NM_001286110.1:c.617A>G	NP_001273039.1:p.Glu206Gly
NM_001042432.2:c.779A>G MANE Select	NP_001035897.1:p.Glu260Gly
NM_001286104.2:c.707A>G	NP_001273033.1:p.Glu236Gly
NM_001286105.2:c.479A>G	NP_001273034.1:p.Glu160Gly
NM_001286109.2:c.545A>G	NP_001273038.1:p.Glu182Gly
NM_001286110.2:c.617A>G	NP_001273039.1:p.Glu206Gly