Canonical Allele Identifier: CA494268927

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493507C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482186C>G , CM000678.2:g.28482186C>G	GRCh38
NC_000016.9:g.28493507C>G , CM000678.1:g.28493507C>G	GRCh37
NC_000016.8:g.28401008C>G	NCBI36
NG_008654.2:g.15117G>C , LRG_689:g.15117G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.903G>C	ENSP00000329171.9:p.Leu301=
ENST00000355477.10:c.831G>C	ENSP00000347660.7:p.Leu277=
ENST00000357857.14:c.813G>C	ENSP00000350523.9:p.Leu271=
ENST00000359984.12:c.975G>C	ENSP00000353073.9:p.Leu325=
ENST00000360019.8:c.903G>C	ENSP00000353116.3:p.Leu301=
ENST00000395653.9:c.516G>C	ENSP00000379014.5:p.Leu172=
ENST00000561689.6:n.1388G>C
ENST00000564091.6:c.315G>C	ENSP00000454466.2:p.Leu105=
ENST00000565316.6:c.924G>C	ENSP00000456117.1:p.Leu308=
ENST00000566824.6:n.1035G>C
ENST00000567963.6:c.813G>C	ENSP00000455387.2:p.Leu271=
ENST00000568076.6:n.1404G>C
ENST00000568422.6:c.*212G>C	ENSP00000455549.2:n.*212G>C
ENST00000568452.6:n.1206G>C
ENST00000568497.6:c.6G>C	ENSP00000456414.2:p.Leu2=
ENST00000569430.7:c.975G>C	ENSP00000454229.1:p.Leu325=
ENST00000628023.3:c.*271G>C	ENSP00000486178.1:n.*271G>C
ENST00000635861.1:c.*627G>C	ENSP00000490034.1:n.*627G>C
ENST00000635887.1:c.975G>C	ENSP00000490709.1:p.Leu325=
ENST00000635958.1:n.1260G>C
ENST00000635973.1:c.726G>C	ENSP00000490363.1:p.Leu242=
ENST00000636017.1:c.*499G>C	ENSP00000490538.1:n.*499G>C
ENST00000636078.1:n.1097G>C
ENST00000636147.2:c.975G>C MANE Select	ENSP00000490105.1:p.Leu325=
ENST00000636172.1:c.*499G>C	ENSP00000490505.1:n.*499G>C
ENST00000636228.1:c.669G>C	ENSP00000489627.1:p.Leu223=
ENST00000636351.1:n.869G>C
ENST00000636503.1:c.975G>C	ENSP00000489824.1:p.Leu325=
ENST00000636685.1:n.656G>C
ENST00000636766.1:c.975G>C	ENSP00000489841.1:p.Leu325=
ENST00000636839.1:n.1349G>C
ENST00000636853.1:n.1890G>C
ENST00000636866.1:c.975G>C	ENSP00000490880.1:p.Leu325=
ENST00000636907.1:n.1126G>C
ENST00000636977.1:n.2345G>C
ENST00000637050.1:n.1364G>C
ENST00000637100.1:c.924G>C	ENSP00000490394.1:p.Leu308=
ENST00000637107.1:c.*499G>C	ENSP00000490248.1:n.*499G>C
ENST00000637184.1:c.975G>C	ENSP00000489952.1:p.Leu325=
ENST00000637299.1:c.*784G>C	ENSP00000489823.1:n.*784G>C
ENST00000637376.1:c.975G>C	ENSP00000490758.1:p.Leu325=
ENST00000637378.1:c.147G>C	ENSP00000490831.1:p.Leu49=
ENST00000637578.1:c.*499G>C	ENSP00000490206.1:n.*499G>C
ENST00000637699.1:c.886G>C	ENSP00000490049.1:n.886G>C
ENST00000637745.1:c.314G>C
ENST00000637871.1:c.*673G>C	ENSP00000490670.1:n.*673G>C
ENST00000638036.1:c.137G>C
ENST00000333496.13:c.903G>C	ENSP00000329171.9:p.Leu301=
ENST00000355477.9:c.*212G>C	ENSP00000347660.6:n.*212G>C
ENST00000357806.11:c.678G>C	ENSP00000350457.7:p.Leu226=
ENST00000357857.13:c.813G>C	ENSP00000350523.9:p.Leu271=
ENST00000359984.11:c.669G>C	ENSP00000353073.8:p.Leu223=
ENST00000360019.6:c.975G>C	ENSP00000353116.2:p.Leu325=
ENST00000395653.8:c.675G>C	ENSP00000379014.4:p.Leu225=
ENST00000561689.5:n.944G>C
ENST00000563874.5:n.2503G>C
ENST00000564091.5:c.64G>C
ENST00000564574.5:n.1151G>C
ENST00000565140.5:c.758G>C	ENSP00000455342.1:n.758G>C
ENST00000565316.5:c.924G>C	ENSP00000456117.1:p.Leu308=
ENST00000565354.5:n.288G>C
ENST00000566057.5:c.589G>C	ENSP00000456693.1:n.589G>C
ENST00000567963.5:c.906+291G>C	ENSP00000455387.1:n.906+291G>C
ENST00000568076.5:n.886G>C
ENST00000568224.4:c.741G>C	ENSP00000454253.1:p.Leu247=
ENST00000568422.5:c.*212G>C	ENSP00000455549.1:n.*212G>C
ENST00000568452.5:n.1103G>C
ENST00000568472.5:n.455G>C
ENST00000568558.5:c.516G>C	ENSP00000455603.1:p.Leu172=
ENST00000569030.5:c.645G>C	ENSP00000454680.1:p.Leu215=
ENST00000569430.5:c.975G>C	ENSP00000454229.1:p.Leu325=
ENST00000628023.2:c.*271G>C	ENSP00000486178.1:n.*271G>C
ENST00000631023.2:c.906+291G>C	ENSP00000486616.1:n.906+291G>C
NM_000086.2:c.975G>C , LRG_689t1:c.975G>C	NP_000077.1:p.Leu325=
NM_001042432.1:c.975G>C , LRG_689t2:c.975G>C	NP_001035897.1:p.Leu325=
NM_001286104.1:c.903G>C	NP_001273033.1:p.Leu301=
NM_001286105.1:c.675G>C	NP_001273034.1:p.Leu225=
NM_001286109.1:c.741G>C	NP_001273038.1:p.Leu247=
NM_001286110.1:c.813G>C	NP_001273039.1:p.Leu271=
NM_001042432.2:c.975G>C MANE Select	NP_001035897.1:p.Leu325=
NM_001286104.2:c.903G>C	NP_001273033.1:p.Leu301=
NM_001286105.2:c.675G>C	NP_001273034.1:p.Leu225=
NM_001286109.2:c.741G>C	NP_001273038.1:p.Leu247=
NM_001286110.2:c.813G>C	NP_001273039.1:p.Leu271=