Canonical Allele Identifier: CA395344814

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28495381C>T (hg19) ; chr16:g.28484060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484060C>T , CM000678.2:g.28484060C>T	GRCh38
NC_000016.9:g.28495381C>T , CM000678.1:g.28495381C>T	GRCh37
NC_000016.8:g.28402882C>T	NCBI36
NG_008654.2:g.13243G>A , LRG_689:g.13243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.664G>A	ENSP00000329171.9:p.Glu222Lys
ENST00000355477.10:c.592G>A	ENSP00000347660.7:p.Glu198Lys
ENST00000357857.14:c.574G>A	ENSP00000350523.9:p.Glu192Lys
ENST00000359984.12:c.736G>A	ENSP00000353073.9:p.Glu246Lys
ENST00000360019.8:c.664G>A	ENSP00000353116.3:p.Glu222Lys
ENST00000395653.9:c.277G>A	ENSP00000379014.5:p.Glu93Lys
ENST00000561689.6:n.1021G>A
ENST00000564091.6:c.76G>A	ENSP00000454466.2:p.Glu26Lys
ENST00000565316.6:c.736G>A	ENSP00000456117.1:p.Glu246Lys
ENST00000565778.6:c.367G>A	ENSP00000458015.1:p.Glu123Lys
ENST00000566083.6:n.1194G>A
ENST00000566824.6:n.716G>A
ENST00000567963.6:c.574G>A	ENSP00000455387.2:p.Glu192Lys
ENST00000568076.6:n.863G>A
ENST00000568422.6:c.519G>A	ENSP00000455549.2:p.Gln173=
ENST00000568452.6:n.839G>A
ENST00000568472.6:n.612G>A
ENST00000568497.6:c.-234G>A	ENSP00000456414.2:n.-234G>A
ENST00000568558.6:c.439G>A	ENSP00000455603.2:p.Glu147Lys
ENST00000569430.7:c.736G>A	ENSP00000454229.1:p.Glu246Lys
ENST00000628023.3:c.*32G>A	ENSP00000486178.1:n.*32G>A
ENST00000635861.1:c.*260G>A	ENSP00000490034.1:n.*260G>A
ENST00000635887.1:c.736G>A	ENSP00000490709.1:p.Glu246Lys
ENST00000635958.1:n.847G>A
ENST00000635973.1:c.487G>A	ENSP00000490363.1:p.Glu163Lys
ENST00000636017.1:c.*260G>A	ENSP00000490538.1:n.*260G>A
ENST00000636078.1:n.778G>A
ENST00000636147.2:c.736G>A MANE Select	ENSP00000490105.1:p.Glu246Lys
ENST00000636172.1:c.*260G>A	ENSP00000490505.1:n.*260G>A
ENST00000636228.1:c.430G>A	ENSP00000489627.1:p.Glu144Lys
ENST00000636351.1:n.456G>A
ENST00000636503.1:c.736G>A	ENSP00000489824.1:p.Glu246Lys
ENST00000636685.1:n.243G>A
ENST00000636766.1:c.736G>A	ENSP00000489841.1:p.Glu246Lys
ENST00000636839.1:n.888G>A
ENST00000636853.1:n.1651G>A
ENST00000636866.1:c.736G>A	ENSP00000490880.1:p.Glu246Lys
ENST00000636907.1:n.887G>A
ENST00000636977.1:n.1804G>A
ENST00000637050.1:n.823G>A
ENST00000637100.1:c.736G>A	ENSP00000490394.1:p.Glu246Lys
ENST00000637107.1:c.*260G>A	ENSP00000490248.1:n.*260G>A
ENST00000637184.1:c.736G>A	ENSP00000489952.1:p.Glu246Lys
ENST00000637299.1:c.*545G>A	ENSP00000489823.1:n.*545G>A
ENST00000637376.1:c.736G>A	ENSP00000490758.1:p.Glu246Lys
ENST00000637578.1:c.*260G>A	ENSP00000490206.1:n.*260G>A
ENST00000637699.1:c.519G>A	ENSP00000490049.1:p.Gln173=
ENST00000637745.1:c.75G>A
ENST00000637871.1:c.*260G>A	ENSP00000490670.1:n.*260G>A
ENST00000333496.13:c.664G>A	ENSP00000329171.9:p.Glu222Lys
ENST00000355477.9:c.519G>A	ENSP00000347660.6:p.Gln173=
ENST00000357806.11:c.439G>A	ENSP00000350457.7:p.Glu147Lys
ENST00000357857.13:c.574G>A	ENSP00000350523.9:p.Glu192Lys
ENST00000359984.11:c.430G>A	ENSP00000353073.8:p.Glu144Lys
ENST00000360019.6:c.736G>A	ENSP00000353116.2:p.Glu246Lys
ENST00000395653.8:c.436G>A	ENSP00000379014.4:p.Glu146Lys
ENST00000561689.5:n.577G>A
ENST00000563874.5:n.2090G>A
ENST00000564574.5:n.784G>A
ENST00000565047.1:n.330G>A
ENST00000565140.5:c.519G>A	ENSP00000455342.1:p.Gln173=
ENST00000565316.5:c.736G>A	ENSP00000456117.1:p.Glu246Lys
ENST00000565688.5:c.487G>A	ENSP00000456122.1:p.Glu163Lys
ENST00000565778.5:c.367G>A	ENSP00000458015.1:p.Glu123Lys
ENST00000566057.5:c.350G>A	ENSP00000456693.1:n.350G>A
ENST00000566083.5:n.967G>A
ENST00000566824.5:n.785G>A
ENST00000567495.5:c.519G>A	ENSP00000456013.1:p.Gln173=
ENST00000567963.5:c.736G>A	ENSP00000455387.1:p.Glu246Lys
ENST00000568076.5:n.519G>A
ENST00000568224.4:c.502G>A	ENSP00000454253.1:p.Glu168Lys
ENST00000568422.5:c.372G>A	ENSP00000455549.1:p.Gln124=
ENST00000568452.5:n.736G>A
ENST00000568472.5:n.216G>A
ENST00000568497.5:c.*32G>A	ENSP00000456414.1:n.*32G>A
ENST00000568558.5:c.277G>A	ENSP00000455603.1:p.Glu93Lys
ENST00000569030.5:c.461-1388G>A	ENSP00000454680.1:n.461-1388G>A
ENST00000569430.5:c.736G>A	ENSP00000454229.1:p.Glu246Lys
ENST00000628023.2:c.*32G>A	ENSP00000486178.1:n.*32G>A
ENST00000631023.2:c.736G>A	ENSP00000486616.1:p.Glu246Lys
NM_000086.2:c.736G>A , LRG_689t1:c.736G>A	NP_000077.1:p.Glu246Lys
NM_001042432.1:c.736G>A , LRG_689t2:c.736G>A	NP_001035897.1:p.Glu246Lys
NM_001286104.1:c.664G>A	NP_001273033.1:p.Glu222Lys
NM_001286105.1:c.436G>A	NP_001273034.1:p.Glu146Lys
NM_001286109.1:c.502G>A	NP_001273038.1:p.Glu168Lys
NM_001286110.1:c.574G>A	NP_001273039.1:p.Glu192Lys
NM_001042432.2:c.736G>A MANE Select	NP_001035897.1:p.Glu246Lys
NM_001286104.2:c.664G>A	NP_001273033.1:p.Glu222Lys
NM_001286105.2:c.436G>A	NP_001273034.1:p.Glu146Lys
NM_001286109.2:c.502G>A	NP_001273038.1:p.Glu168Lys
NM_001286110.2:c.574G>A	NP_001273039.1:p.Glu192Lys