Canonical Allele Identifier: CA395344751

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28495357T>A (hg19) ; chr16:g.28484036T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484036T>A , CM000678.2:g.28484036T>A	GRCh38
NC_000016.9:g.28495357T>A , CM000678.1:g.28495357T>A	GRCh37
NC_000016.8:g.28402858T>A	NCBI36
NG_008654.2:g.13267A>T , LRG_689:g.13267A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.688A>T	ENSP00000329171.9:p.Ile230Leu
ENST00000355477.10:c.616A>T	ENSP00000347660.7:p.Ile206Leu
ENST00000357857.14:c.598A>T	ENSP00000350523.9:p.Ile200Leu
ENST00000359984.12:c.760A>T	ENSP00000353073.9:p.Ile254Leu
ENST00000360019.8:c.688A>T	ENSP00000353116.3:p.Ile230Leu
ENST00000395653.9:c.301A>T	ENSP00000379014.5:p.Ile101Leu
ENST00000561689.6:n.1045A>T
ENST00000564091.6:c.100A>T	ENSP00000454466.2:p.Ile34Leu
ENST00000565316.6:c.760A>T	ENSP00000456117.1:p.Ile254Leu
ENST00000565778.6:c.391A>T	ENSP00000458015.1:p.Ile131Leu
ENST00000566083.6:n.1218A>T
ENST00000566824.6:n.740A>T
ENST00000567963.6:c.598A>T	ENSP00000455387.2:p.Ile200Leu
ENST00000568076.6:n.887A>T
ENST00000568422.6:c.543A>T	ENSP00000455549.2:p.Ser181=
ENST00000568452.6:n.863A>T
ENST00000568472.6:n.636A>T
ENST00000568497.6:c.-210A>T	ENSP00000456414.2:n.-210A>T
ENST00000568558.6:c.463A>T	ENSP00000455603.2:p.Ile155Leu
ENST00000569430.7:c.760A>T	ENSP00000454229.1:p.Ile254Leu
ENST00000628023.3:c.*56A>T	ENSP00000486178.1:n.*56A>T
ENST00000635861.1:c.*284A>T	ENSP00000490034.1:n.*284A>T
ENST00000635887.1:c.760A>T	ENSP00000490709.1:p.Ile254Leu
ENST00000635958.1:n.871A>T
ENST00000635973.1:c.511A>T	ENSP00000490363.1:p.Ile171Leu
ENST00000636017.1:c.*284A>T	ENSP00000490538.1:n.*284A>T
ENST00000636078.1:n.802A>T
ENST00000636147.2:c.760A>T MANE Select	ENSP00000490105.1:p.Ile254Leu
ENST00000636172.1:c.*284A>T	ENSP00000490505.1:n.*284A>T
ENST00000636228.1:c.454A>T	ENSP00000489627.1:p.Ile152Leu
ENST00000636351.1:n.480A>T
ENST00000636503.1:c.760A>T	ENSP00000489824.1:p.Ile254Leu
ENST00000636685.1:n.267A>T
ENST00000636766.1:c.760A>T	ENSP00000489841.1:p.Ile254Leu
ENST00000636839.1:n.912A>T
ENST00000636853.1:n.1675A>T
ENST00000636866.1:c.760A>T	ENSP00000490880.1:p.Ile254Leu
ENST00000636907.1:n.911A>T
ENST00000636977.1:n.1828A>T
ENST00000637050.1:n.847A>T
ENST00000637100.1:c.760A>T	ENSP00000490394.1:p.Ile254Leu
ENST00000637107.1:c.*284A>T	ENSP00000490248.1:n.*284A>T
ENST00000637184.1:c.760A>T	ENSP00000489952.1:p.Ile254Leu
ENST00000637299.1:c.*569A>T	ENSP00000489823.1:n.*569A>T
ENST00000637376.1:c.760A>T	ENSP00000490758.1:p.Ile254Leu
ENST00000637578.1:c.*284A>T	ENSP00000490206.1:n.*284A>T
ENST00000637699.1:c.543A>T	ENSP00000490049.1:p.Ser181=
ENST00000637745.1:c.99A>T
ENST00000637871.1:c.*284A>T	ENSP00000490670.1:n.*284A>T
ENST00000333496.13:c.688A>T	ENSP00000329171.9:p.Ile230Leu
ENST00000355477.9:c.543A>T	ENSP00000347660.6:p.Ser181=
ENST00000357806.11:c.463A>T	ENSP00000350457.7:p.Ile155Leu
ENST00000357857.13:c.598A>T	ENSP00000350523.9:p.Ile200Leu
ENST00000359984.11:c.454A>T	ENSP00000353073.8:p.Ile152Leu
ENST00000360019.6:c.760A>T	ENSP00000353116.2:p.Ile254Leu
ENST00000395653.8:c.460A>T	ENSP00000379014.4:p.Ile154Leu
ENST00000561689.5:n.601A>T
ENST00000563874.5:n.2114A>T
ENST00000564574.5:n.808A>T
ENST00000565047.1:n.354A>T
ENST00000565140.5:c.543A>T	ENSP00000455342.1:p.Ser181=
ENST00000565316.5:c.760A>T	ENSP00000456117.1:p.Ile254Leu
ENST00000565688.5:c.511A>T	ENSP00000456122.1:p.Ile171Leu
ENST00000565778.5:c.391A>T	ENSP00000458015.1:p.Ile131Leu
ENST00000566057.5:c.374A>T	ENSP00000456693.1:n.374A>T
ENST00000566083.5:n.991A>T
ENST00000566824.5:n.809A>T
ENST00000567495.5:c.543A>T	ENSP00000456013.1:p.Ser181=
ENST00000567963.5:c.760A>T	ENSP00000455387.1:p.Ile254Leu
ENST00000568076.5:n.543A>T
ENST00000568224.4:c.526A>T	ENSP00000454253.1:p.Ile176Leu
ENST00000568422.5:c.396A>T	ENSP00000455549.1:p.Ser132=
ENST00000568452.5:n.760A>T
ENST00000568472.5:n.240A>T
ENST00000568497.5:c.*56A>T	ENSP00000456414.1:n.*56A>T
ENST00000568558.5:c.301A>T	ENSP00000455603.1:p.Ile101Leu
ENST00000569030.5:c.461-1364A>T	ENSP00000454680.1:n.461-1364A>T
ENST00000569430.5:c.760A>T	ENSP00000454229.1:p.Ile254Leu
ENST00000628023.2:c.*56A>T	ENSP00000486178.1:n.*56A>T
ENST00000631023.2:c.760A>T	ENSP00000486616.1:p.Ile254Leu
NM_000086.2:c.760A>T , LRG_689t1:c.760A>T	NP_000077.1:p.Ile254Leu
NM_001042432.1:c.760A>T , LRG_689t2:c.760A>T	NP_001035897.1:p.Ile254Leu
NM_001286104.1:c.688A>T	NP_001273033.1:p.Ile230Leu
NM_001286105.1:c.460A>T	NP_001273034.1:p.Ile154Leu
NM_001286109.1:c.526A>T	NP_001273038.1:p.Ile176Leu
NM_001286110.1:c.598A>T	NP_001273039.1:p.Ile200Leu
NM_001042432.2:c.760A>T MANE Select	NP_001035897.1:p.Ile254Leu
NM_001286104.2:c.688A>T	NP_001273033.1:p.Ile230Leu
NM_001286105.2:c.460A>T	NP_001273034.1:p.Ile154Leu
NM_001286109.2:c.526A>T	NP_001273038.1:p.Ile176Leu
NM_001286110.2:c.598A>T	NP_001273039.1:p.Ile200Leu