Canonical Allele Identifier: CA395344937

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28495425A>C (hg19) ; chr16:g.28484104A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484104A>C , CM000678.2:g.28484104A>C	GRCh38
NC_000016.9:g.28495425A>C , CM000678.1:g.28495425A>C	GRCh37
NC_000016.8:g.28402926A>C	NCBI36
NG_008654.2:g.13199T>G , LRG_689:g.13199T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.620T>G	ENSP00000329171.9:p.Leu207Arg
ENST00000355477.10:c.548T>G	ENSP00000347660.7:p.Leu183Arg
ENST00000357857.14:c.530T>G	ENSP00000350523.9:p.Leu177Arg
ENST00000359984.12:c.692T>G	ENSP00000353073.9:p.Leu231Arg
ENST00000360019.8:c.620T>G	ENSP00000353116.3:p.Leu207Arg
ENST00000395653.9:c.233T>G	ENSP00000379014.5:p.Leu78Arg
ENST00000561689.6:n.977T>G
ENST00000564091.6:c.32T>G	ENSP00000454466.2:p.Leu11Arg
ENST00000565316.6:c.692T>G	ENSP00000456117.1:p.Leu231Arg
ENST00000565778.6:c.323T>G	ENSP00000458015.1:p.Leu108Arg
ENST00000566083.6:n.1150T>G
ENST00000566824.6:n.672T>G
ENST00000567495.6:c.*151T>G	ENSP00000456013.2:n.*151T>G
ENST00000567963.6:c.530T>G	ENSP00000455387.2:p.Leu177Arg
ENST00000568076.6:n.819T>G
ENST00000568422.6:c.475T>G	ENSP00000455549.2:p.Ser159Ala
ENST00000568452.6:n.795T>G
ENST00000568472.6:n.568T>G
ENST00000568497.6:c.-278T>G	ENSP00000456414.2:n.-278T>G
ENST00000568558.6:c.395T>G	ENSP00000455603.2:p.Leu132Arg
ENST00000569430.7:c.692T>G	ENSP00000454229.1:p.Leu231Arg
ENST00000628023.3:c.237T>G	ENSP00000486178.1:p.Ala79=
ENST00000635861.1:c.*216T>G	ENSP00000490034.1:n.*216T>G
ENST00000635887.1:c.692T>G	ENSP00000490709.1:p.Leu231Arg
ENST00000635958.1:n.803T>G
ENST00000635973.1:c.443T>G	ENSP00000490363.1:p.Leu148Arg
ENST00000636017.1:c.*216T>G	ENSP00000490538.1:n.*216T>G
ENST00000636078.1:n.734T>G
ENST00000636147.2:c.692T>G MANE Select	ENSP00000490105.1:p.Leu231Arg
ENST00000636172.1:c.*216T>G	ENSP00000490505.1:n.*216T>G
ENST00000636228.1:c.386T>G	ENSP00000489627.1:p.Leu129Arg
ENST00000636351.1:n.412T>G
ENST00000636503.1:c.692T>G	ENSP00000489824.1:p.Leu231Arg
ENST00000636685.1:n.199T>G
ENST00000636766.1:c.692T>G	ENSP00000489841.1:p.Leu231Arg
ENST00000636839.1:n.844T>G
ENST00000636853.1:n.1607T>G
ENST00000636866.1:c.692T>G	ENSP00000490880.1:p.Leu231Arg
ENST00000636907.1:n.843T>G
ENST00000636977.1:n.1760T>G
ENST00000637050.1:n.779T>G
ENST00000637100.1:c.692T>G	ENSP00000490394.1:p.Leu231Arg
ENST00000637107.1:c.*216T>G	ENSP00000490248.1:n.*216T>G
ENST00000637184.1:c.692T>G	ENSP00000489952.1:p.Leu231Arg
ENST00000637299.1:c.*501T>G	ENSP00000489823.1:n.*501T>G
ENST00000637376.1:c.692T>G	ENSP00000490758.1:p.Leu231Arg
ENST00000637578.1:c.*216T>G	ENSP00000490206.1:n.*216T>G
ENST00000637699.1:c.475T>G	ENSP00000490049.1:p.Ser159Ala
ENST00000637745.1:c.31T>G
ENST00000637871.1:c.*216T>G	ENSP00000490670.1:n.*216T>G
ENST00000333496.13:c.620T>G	ENSP00000329171.9:p.Leu207Arg
ENST00000355477.9:c.475T>G	ENSP00000347660.6:p.Ser159Ala
ENST00000357806.11:c.395T>G	ENSP00000350457.7:p.Leu132Arg
ENST00000357857.13:c.530T>G	ENSP00000350523.9:p.Leu177Arg
ENST00000359984.11:c.386T>G	ENSP00000353073.8:p.Leu129Arg
ENST00000360019.6:c.692T>G	ENSP00000353116.2:p.Leu231Arg
ENST00000395653.8:c.392T>G	ENSP00000379014.4:p.Leu131Arg
ENST00000561689.5:n.533T>G
ENST00000563874.5:n.2046T>G
ENST00000564574.5:n.740T>G
ENST00000565047.1:n.286T>G
ENST00000565140.5:c.475T>G	ENSP00000455342.1:p.Ser159Ala
ENST00000565316.5:c.692T>G	ENSP00000456117.1:p.Leu231Arg
ENST00000565688.5:c.443T>G	ENSP00000456122.1:p.Leu148Arg
ENST00000565778.5:c.323T>G	ENSP00000458015.1:p.Leu108Arg
ENST00000566057.5:c.306T>G	ENSP00000456693.1:p.Ala102=
ENST00000566083.5:n.923T>G
ENST00000566824.5:n.741T>G
ENST00000567495.5:c.475T>G	ENSP00000456013.1:p.Ser159Ala
ENST00000567963.5:c.692T>G	ENSP00000455387.1:p.Leu231Arg
ENST00000568076.5:n.475T>G
ENST00000568224.4:c.458T>G	ENSP00000454253.1:p.Leu153Arg
ENST00000568422.5:c.328T>G	ENSP00000455549.1:p.Ser110Ala
ENST00000568452.5:n.692T>G
ENST00000568472.5:n.172T>G
ENST00000568497.5:c.237T>G	ENSP00000456414.1:p.Ala79=
ENST00000568558.5:c.233T>G	ENSP00000455603.1:p.Leu78Arg
ENST00000569030.5:c.461-1432T>G	ENSP00000454680.1:n.461-1432T>G
ENST00000569430.5:c.692T>G	ENSP00000454229.1:p.Leu231Arg
ENST00000628023.2:c.237T>G	ENSP00000486178.1:p.Ala79=
ENST00000631023.2:c.692T>G	ENSP00000486616.1:p.Leu231Arg
NM_000086.2:c.692T>G , LRG_689t1:c.692T>G	NP_000077.1:p.Leu231Arg
NM_001042432.1:c.692T>G , LRG_689t2:c.692T>G	NP_001035897.1:p.Leu231Arg
NM_001286104.1:c.620T>G	NP_001273033.1:p.Leu207Arg
NM_001286105.1:c.392T>G	NP_001273034.1:p.Leu131Arg
NM_001286109.1:c.458T>G	NP_001273038.1:p.Leu153Arg
NM_001286110.1:c.530T>G	NP_001273039.1:p.Leu177Arg
NM_001042432.2:c.692T>G MANE Select	NP_001035897.1:p.Leu231Arg
NM_001286104.2:c.620T>G	NP_001273033.1:p.Leu207Arg
NM_001286105.2:c.392T>G	NP_001273034.1:p.Leu131Arg
NM_001286109.2:c.458T>G	NP_001273038.1:p.Leu153Arg
NM_001286110.2:c.530T>G	NP_001273039.1:p.Leu177Arg