Canonical Allele Identifier: CA395344764

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28495362G>C (hg19) ; chr16:g.28484041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484041G>C , CM000678.2:g.28484041G>C	GRCh38
NC_000016.9:g.28495362G>C , CM000678.1:g.28495362G>C	GRCh37
NC_000016.8:g.28402863G>C	NCBI36
NG_008654.2:g.13262C>G , LRG_689:g.13262C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.683C>G	ENSP00000329171.9:p.Pro228Arg
ENST00000355477.10:c.611C>G	ENSP00000347660.7:p.Pro204Arg
ENST00000357857.14:c.593C>G	ENSP00000350523.9:p.Pro198Arg
ENST00000359984.12:c.755C>G	ENSP00000353073.9:p.Pro252Arg
ENST00000360019.8:c.683C>G	ENSP00000353116.3:p.Pro228Arg
ENST00000395653.9:c.296C>G	ENSP00000379014.5:p.Pro99Arg
ENST00000561689.6:n.1040C>G
ENST00000564091.6:c.95C>G	ENSP00000454466.2:p.Pro32Arg
ENST00000565316.6:c.755C>G	ENSP00000456117.1:p.Pro252Arg
ENST00000565778.6:c.386C>G	ENSP00000458015.1:p.Pro129Arg
ENST00000566083.6:n.1213C>G
ENST00000566824.6:n.735C>G
ENST00000567963.6:c.593C>G	ENSP00000455387.2:p.Pro198Arg
ENST00000568076.6:n.882C>G
ENST00000568422.6:c.538C>G	ENSP00000455549.2:p.Pro180Ala
ENST00000568452.6:n.858C>G
ENST00000568472.6:n.631C>G
ENST00000568497.6:c.-215C>G	ENSP00000456414.2:n.-215C>G
ENST00000568558.6:c.458C>G	ENSP00000455603.2:p.Pro153Arg
ENST00000569430.7:c.755C>G	ENSP00000454229.1:p.Pro252Arg
ENST00000628023.3:c.*51C>G	ENSP00000486178.1:n.*51C>G
ENST00000635861.1:c.*279C>G	ENSP00000490034.1:n.*279C>G
ENST00000635887.1:c.755C>G	ENSP00000490709.1:p.Pro252Arg
ENST00000635958.1:n.866C>G
ENST00000635973.1:c.506C>G	ENSP00000490363.1:p.Pro169Arg
ENST00000636017.1:c.*279C>G	ENSP00000490538.1:n.*279C>G
ENST00000636078.1:n.797C>G
ENST00000636147.2:c.755C>G MANE Select	ENSP00000490105.1:p.Pro252Arg
ENST00000636172.1:c.*279C>G	ENSP00000490505.1:n.*279C>G
ENST00000636228.1:c.449C>G	ENSP00000489627.1:p.Pro150Arg
ENST00000636351.1:n.475C>G
ENST00000636503.1:c.755C>G	ENSP00000489824.1:p.Pro252Arg
ENST00000636685.1:n.262C>G
ENST00000636766.1:c.755C>G	ENSP00000489841.1:p.Pro252Arg
ENST00000636839.1:n.907C>G
ENST00000636853.1:n.1670C>G
ENST00000636866.1:c.755C>G	ENSP00000490880.1:p.Pro252Arg
ENST00000636907.1:n.906C>G
ENST00000636977.1:n.1823C>G
ENST00000637050.1:n.842C>G
ENST00000637100.1:c.755C>G	ENSP00000490394.1:p.Pro252Arg
ENST00000637107.1:c.*279C>G	ENSP00000490248.1:n.*279C>G
ENST00000637184.1:c.755C>G	ENSP00000489952.1:p.Pro252Arg
ENST00000637299.1:c.*564C>G	ENSP00000489823.1:n.*564C>G
ENST00000637376.1:c.755C>G	ENSP00000490758.1:p.Pro252Arg
ENST00000637578.1:c.*279C>G	ENSP00000490206.1:n.*279C>G
ENST00000637699.1:c.538C>G	ENSP00000490049.1:p.Pro180Ala
ENST00000637745.1:c.94C>G
ENST00000637871.1:c.*279C>G	ENSP00000490670.1:n.*279C>G
ENST00000333496.13:c.683C>G	ENSP00000329171.9:p.Pro228Arg
ENST00000355477.9:c.538C>G	ENSP00000347660.6:p.Pro180Ala
ENST00000357806.11:c.458C>G	ENSP00000350457.7:p.Pro153Arg
ENST00000357857.13:c.593C>G	ENSP00000350523.9:p.Pro198Arg
ENST00000359984.11:c.449C>G	ENSP00000353073.8:p.Pro150Arg
ENST00000360019.6:c.755C>G	ENSP00000353116.2:p.Pro252Arg
ENST00000395653.8:c.455C>G	ENSP00000379014.4:p.Pro152Arg
ENST00000561689.5:n.596C>G
ENST00000563874.5:n.2109C>G
ENST00000564574.5:n.803C>G
ENST00000565047.1:n.349C>G
ENST00000565140.5:c.538C>G	ENSP00000455342.1:p.Pro180Ala
ENST00000565316.5:c.755C>G	ENSP00000456117.1:p.Pro252Arg
ENST00000565688.5:c.506C>G	ENSP00000456122.1:p.Pro169Arg
ENST00000565778.5:c.386C>G	ENSP00000458015.1:p.Pro129Arg
ENST00000566057.5:c.369C>G	ENSP00000456693.1:n.369C>G
ENST00000566083.5:n.986C>G
ENST00000566824.5:n.804C>G
ENST00000567495.5:c.538C>G	ENSP00000456013.1:p.Pro180Ala
ENST00000567963.5:c.755C>G	ENSP00000455387.1:p.Pro252Arg
ENST00000568076.5:n.538C>G
ENST00000568224.4:c.521C>G	ENSP00000454253.1:p.Pro174Arg
ENST00000568422.5:c.391C>G	ENSP00000455549.1:p.Pro131Ala
ENST00000568452.5:n.755C>G
ENST00000568472.5:n.235C>G
ENST00000568497.5:c.*51C>G	ENSP00000456414.1:n.*51C>G
ENST00000568558.5:c.296C>G	ENSP00000455603.1:p.Pro99Arg
ENST00000569030.5:c.461-1369C>G	ENSP00000454680.1:n.461-1369C>G
ENST00000569430.5:c.755C>G	ENSP00000454229.1:p.Pro252Arg
ENST00000628023.2:c.*51C>G	ENSP00000486178.1:n.*51C>G
ENST00000631023.2:c.755C>G	ENSP00000486616.1:p.Pro252Arg
NM_000086.2:c.755C>G , LRG_689t1:c.755C>G	NP_000077.1:p.Pro252Arg
NM_001042432.1:c.755C>G , LRG_689t2:c.755C>G	NP_001035897.1:p.Pro252Arg
NM_001286104.1:c.683C>G	NP_001273033.1:p.Pro228Arg
NM_001286105.1:c.455C>G	NP_001273034.1:p.Pro152Arg
NM_001286109.1:c.521C>G	NP_001273038.1:p.Pro174Arg
NM_001286110.1:c.593C>G	NP_001273039.1:p.Pro198Arg
NM_001042432.2:c.755C>G MANE Select	NP_001035897.1:p.Pro252Arg
NM_001286104.2:c.683C>G	NP_001273033.1:p.Pro228Arg
NM_001286105.2:c.455C>G	NP_001273034.1:p.Pro152Arg
NM_001286109.2:c.521C>G	NP_001273038.1:p.Pro174Arg
NM_001286110.2:c.593C>G	NP_001273039.1:p.Pro198Arg