Canonical Allele Identifier: CA395344103

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493469C>G (hg19) ; chr16:g.28482148C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482148C>G , CM000678.2:g.28482148C>G	GRCh38
NC_000016.9:g.28493469C>G , CM000678.1:g.28493469C>G	GRCh37
NC_000016.8:g.28400970C>G	NCBI36
NG_008654.2:g.15155G>C , LRG_689:g.15155G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.941G>C	ENSP00000329171.9:p.Arg314Pro
ENST00000355477.10:c.869G>C	ENSP00000347660.7:p.Arg290Pro
ENST00000357857.14:c.851G>C	ENSP00000350523.9:p.Arg284Pro
ENST00000359984.12:c.1013G>C	ENSP00000353073.9:p.Arg338Pro
ENST00000360019.8:c.941G>C	ENSP00000353116.3:p.Arg314Pro
ENST00000395653.9:c.554G>C	ENSP00000379014.5:p.Arg185Pro
ENST00000561689.6:n.1426G>C
ENST00000564091.6:c.353G>C	ENSP00000454466.2:p.Arg118Pro
ENST00000565316.6:c.962G>C	ENSP00000456117.1:p.Arg321Pro
ENST00000566824.6:n.1073G>C
ENST00000567963.6:c.851G>C	ENSP00000455387.2:p.Arg284Pro
ENST00000568076.6:n.1442G>C
ENST00000568422.6:c.*250G>C	ENSP00000455549.2:n.*250G>C
ENST00000568452.6:n.1244G>C
ENST00000568497.6:c.44G>C	ENSP00000456414.2:p.Arg15Pro
ENST00000569430.7:c.1013G>C	ENSP00000454229.1:p.Arg338Pro
ENST00000628023.3:c.*309G>C	ENSP00000486178.1:n.*309G>C
ENST00000635861.1:c.*665G>C	ENSP00000490034.1:n.*665G>C
ENST00000635887.1:c.1013G>C	ENSP00000490709.1:p.Arg338Pro
ENST00000635958.1:n.1298G>C
ENST00000635973.1:c.764G>C	ENSP00000490363.1:p.Arg255Pro
ENST00000636017.1:c.*537G>C	ENSP00000490538.1:n.*537G>C
ENST00000636078.1:n.1135G>C
ENST00000636147.2:c.1013G>C MANE Select	ENSP00000490105.1:p.Arg338Pro
ENST00000636172.1:c.*537G>C	ENSP00000490505.1:n.*537G>C
ENST00000636228.1:c.707G>C	ENSP00000489627.1:p.Arg236Pro
ENST00000636351.1:n.907G>C
ENST00000636503.1:c.1013G>C	ENSP00000489824.1:p.Arg338Pro
ENST00000636685.1:n.694G>C
ENST00000636766.1:c.1013G>C	ENSP00000489841.1:p.Arg338Pro
ENST00000636839.1:n.1387G>C
ENST00000636853.1:n.1928G>C
ENST00000636866.1:c.1013G>C	ENSP00000490880.1:p.Arg338Pro
ENST00000636907.1:n.1164G>C
ENST00000636977.1:n.2383G>C
ENST00000637050.1:n.1402G>C
ENST00000637100.1:c.962G>C	ENSP00000490394.1:p.Arg321Pro
ENST00000637107.1:c.*537G>C	ENSP00000490248.1:n.*537G>C
ENST00000637184.1:c.1013G>C	ENSP00000489952.1:p.Arg338Pro
ENST00000637299.1:c.*822G>C	ENSP00000489823.1:n.*822G>C
ENST00000637376.1:c.1013G>C	ENSP00000490758.1:p.Arg338Pro
ENST00000637378.1:c.185G>C	ENSP00000490831.1:p.Arg62Pro
ENST00000637578.1:c.*537G>C	ENSP00000490206.1:n.*537G>C
ENST00000637699.1:c.924G>C	ENSP00000490049.1:n.924G>C
ENST00000637745.1:c.352G>C
ENST00000637871.1:c.*711G>C	ENSP00000490670.1:n.*711G>C
ENST00000638036.1:c.175G>C
ENST00000333496.13:c.941G>C	ENSP00000329171.9:p.Arg314Pro
ENST00000355477.9:c.*250G>C	ENSP00000347660.6:n.*250G>C
ENST00000357806.11:c.716G>C	ENSP00000350457.7:p.Arg239Pro
ENST00000357857.13:c.851G>C	ENSP00000350523.9:p.Arg284Pro
ENST00000359984.11:c.707G>C	ENSP00000353073.8:p.Arg236Pro
ENST00000360019.6:c.1013G>C	ENSP00000353116.2:p.Arg338Pro
ENST00000395653.8:c.713G>C	ENSP00000379014.4:p.Arg238Pro
ENST00000561689.5:n.982G>C
ENST00000563874.5:n.2541G>C
ENST00000564091.5:c.102G>C
ENST00000565140.5:c.796G>C	ENSP00000455342.1:n.796G>C
ENST00000565316.5:c.962G>C	ENSP00000456117.1:p.Arg321Pro
ENST00000565354.5:n.326G>C
ENST00000566057.5:c.627G>C	ENSP00000456693.1:n.627G>C
ENST00000567963.5:c.906+329G>C	ENSP00000455387.1:n.906+329G>C
ENST00000568076.5:n.924G>C
ENST00000568224.4:c.779G>C	ENSP00000454253.1:p.Arg260Pro
ENST00000568422.5:c.*250G>C	ENSP00000455549.1:n.*250G>C
ENST00000568452.5:n.1141G>C
ENST00000569030.5:c.683G>C	ENSP00000454680.1:p.Arg228Pro
ENST00000569430.5:c.1013G>C	ENSP00000454229.1:p.Arg338Pro
ENST00000628023.2:c.*309G>C	ENSP00000486178.1:n.*309G>C
ENST00000631023.2:c.906+329G>C	ENSP00000486616.1:n.906+329G>C
NM_000086.2:c.1013G>C , LRG_689t1:c.1013G>C	NP_000077.1:p.Arg338Pro
NM_001042432.1:c.1013G>C , LRG_689t2:c.1013G>C	NP_001035897.1:p.Arg338Pro
NM_001286104.1:c.941G>C	NP_001273033.1:p.Arg314Pro
NM_001286105.1:c.713G>C	NP_001273034.1:p.Arg238Pro
NM_001286109.1:c.779G>C	NP_001273038.1:p.Arg260Pro
NM_001286110.1:c.851G>C	NP_001273039.1:p.Arg284Pro
NM_001042432.2:c.1013G>C MANE Select	NP_001035897.1:p.Arg338Pro
NM_001286104.2:c.941G>C	NP_001273033.1:p.Arg314Pro
NM_001286105.2:c.713G>C	NP_001273034.1:p.Arg238Pro
NM_001286109.2:c.779G>C	NP_001273038.1:p.Arg260Pro
NM_001286110.2:c.851G>C	NP_001273039.1:p.Arg284Pro