Canonical Allele Identifier: CA395344047

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493458T>A (hg19) ; chr16:g.28482137T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482137T>A , CM000678.2:g.28482137T>A	GRCh38
NC_000016.9:g.28493458T>A , CM000678.1:g.28493458T>A	GRCh37
NC_000016.8:g.28400959T>A	NCBI36
NG_008654.2:g.15166A>T , LRG_689:g.15166A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.952A>T	ENSP00000329171.9:p.Ile318Phe
ENST00000355477.10:c.880A>T	ENSP00000347660.7:p.Ile294Phe
ENST00000357857.14:c.862A>T	ENSP00000350523.9:p.Ile288Phe
ENST00000359984.12:c.1024A>T	ENSP00000353073.9:p.Ile342Phe
ENST00000360019.8:c.952A>T	ENSP00000353116.3:p.Ile318Phe
ENST00000395653.9:c.565A>T	ENSP00000379014.5:p.Ile189Phe
ENST00000561689.6:n.1437A>T
ENST00000564091.6:c.364A>T	ENSP00000454466.2:p.Ile122Phe
ENST00000565316.6:c.973A>T	ENSP00000456117.1:p.Ile325Phe
ENST00000566824.6:n.1084A>T
ENST00000567963.6:c.862A>T	ENSP00000455387.2:p.Ile288Phe
ENST00000568076.6:n.1453A>T
ENST00000568422.6:c.*261A>T	ENSP00000455549.2:n.*261A>T
ENST00000568452.6:n.1255A>T
ENST00000568497.6:c.55A>T	ENSP00000456414.2:p.Ile19Phe
ENST00000569430.7:c.1024A>T	ENSP00000454229.1:p.Ile342Phe
ENST00000628023.3:c.*320A>T	ENSP00000486178.1:n.*320A>T
ENST00000635861.1:c.*676A>T	ENSP00000490034.1:n.*676A>T
ENST00000635887.1:c.1024A>T	ENSP00000490709.1:p.Ile342Phe
ENST00000635958.1:n.1309A>T
ENST00000635973.1:c.775A>T	ENSP00000490363.1:p.Ile259Phe
ENST00000636017.1:c.*548A>T	ENSP00000490538.1:n.*548A>T
ENST00000636078.1:n.1146A>T
ENST00000636147.2:c.1024A>T MANE Select	ENSP00000490105.1:p.Ile342Phe
ENST00000636172.1:c.*548A>T	ENSP00000490505.1:n.*548A>T
ENST00000636228.1:c.718A>T	ENSP00000489627.1:p.Ile240Phe
ENST00000636351.1:n.918A>T
ENST00000636503.1:c.1024A>T	ENSP00000489824.1:p.Ile342Phe
ENST00000636685.1:n.705A>T
ENST00000636766.1:c.1024A>T	ENSP00000489841.1:p.Ile342Phe
ENST00000636839.1:n.1398A>T
ENST00000636853.1:n.1939A>T
ENST00000636866.1:c.1024A>T	ENSP00000490880.1:p.Ile342Phe
ENST00000636907.1:n.1175A>T
ENST00000636977.1:n.2394A>T
ENST00000637050.1:n.1413A>T
ENST00000637100.1:c.973A>T	ENSP00000490394.1:p.Ile325Phe
ENST00000637107.1:c.*548A>T	ENSP00000490248.1:n.*548A>T
ENST00000637184.1:c.1024A>T	ENSP00000489952.1:p.Ile342Phe
ENST00000637299.1:c.*833A>T	ENSP00000489823.1:n.*833A>T
ENST00000637376.1:c.1024A>T	ENSP00000490758.1:p.Ile342Phe
ENST00000637378.1:c.196A>T	ENSP00000490831.1:p.Ile66Phe
ENST00000637578.1:c.*548A>T	ENSP00000490206.1:n.*548A>T
ENST00000637699.1:c.935A>T	ENSP00000490049.1:n.935A>T
ENST00000637745.1:c.363A>T
ENST00000637871.1:c.*722A>T	ENSP00000490670.1:n.*722A>T
ENST00000638036.1:c.186A>T
ENST00000333496.13:c.952A>T	ENSP00000329171.9:p.Ile318Phe
ENST00000355477.9:c.*261A>T	ENSP00000347660.6:n.*261A>T
ENST00000357806.11:c.727A>T	ENSP00000350457.7:p.Ile243Phe
ENST00000357857.13:c.862A>T	ENSP00000350523.9:p.Ile288Phe
ENST00000359984.11:c.718A>T	ENSP00000353073.8:p.Ile240Phe
ENST00000360019.6:c.1024A>T	ENSP00000353116.2:p.Ile342Phe
ENST00000395653.8:c.724A>T	ENSP00000379014.4:p.Ile242Phe
ENST00000561689.5:n.993A>T
ENST00000563874.5:n.2552A>T
ENST00000564091.5:c.113A>T
ENST00000565140.5:c.807A>T	ENSP00000455342.1:n.807A>T
ENST00000565316.5:c.973A>T	ENSP00000456117.1:p.Ile325Phe
ENST00000565354.5:n.337A>T
ENST00000566057.5:c.638A>T	ENSP00000456693.1:n.638A>T
ENST00000567963.5:c.906+340A>T	ENSP00000455387.1:n.906+340A>T
ENST00000568076.5:n.935A>T
ENST00000568224.4:c.790A>T	ENSP00000454253.1:p.Ile264Phe
ENST00000568422.5:c.*261A>T	ENSP00000455549.1:n.*261A>T
ENST00000568452.5:n.1152A>T
ENST00000569030.5:c.694A>T	ENSP00000454680.1:p.Ile232Phe
ENST00000569430.5:c.1024A>T	ENSP00000454229.1:p.Ile342Phe
ENST00000628023.2:c.*320A>T	ENSP00000486178.1:n.*320A>T
ENST00000631023.2:c.906+340A>T	ENSP00000486616.1:n.906+340A>T
NM_000086.2:c.1024A>T , LRG_689t1:c.1024A>T	NP_000077.1:p.Ile342Phe
NM_001042432.1:c.1024A>T , LRG_689t2:c.1024A>T	NP_001035897.1:p.Ile342Phe
NM_001286104.1:c.952A>T	NP_001273033.1:p.Ile318Phe
NM_001286105.1:c.724A>T	NP_001273034.1:p.Ile242Phe
NM_001286109.1:c.790A>T	NP_001273038.1:p.Ile264Phe
NM_001286110.1:c.862A>T	NP_001273039.1:p.Ile288Phe
NM_001042432.2:c.1024A>T MANE Select	NP_001035897.1:p.Ile342Phe
NM_001286104.2:c.952A>T	NP_001273033.1:p.Ile318Phe
NM_001286105.2:c.724A>T	NP_001273034.1:p.Ile242Phe
NM_001286109.2:c.790A>T	NP_001273038.1:p.Ile264Phe
NM_001286110.2:c.862A>T	NP_001273039.1:p.Ile288Phe