Canonical Allele Identifier: CA395343925

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493433A>G (hg19) ; chr16:g.28482112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482112A>G , CM000678.2:g.28482112A>G	GRCh38
NC_000016.9:g.28493433A>G , CM000678.1:g.28493433A>G	GRCh37
NC_000016.8:g.28400934A>G	NCBI36
NG_008654.2:g.15191T>C , LRG_689:g.15191T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.977T>C	ENSP00000329171.9:p.Leu326Pro
ENST00000355477.10:c.905T>C	ENSP00000347660.7:p.Leu302Pro
ENST00000357857.14:c.887T>C	ENSP00000350523.9:p.Leu296Pro
ENST00000359984.12:c.1049T>C	ENSP00000353073.9:p.Leu350Pro
ENST00000360019.8:c.977T>C	ENSP00000353116.3:p.Leu326Pro
ENST00000395653.9:c.590T>C	ENSP00000379014.5:p.Leu197Pro
ENST00000561689.6:n.1462T>C
ENST00000564091.6:c.389T>C	ENSP00000454466.2:p.Leu130Pro
ENST00000565316.6:c.998T>C	ENSP00000456117.1:p.Leu333Pro
ENST00000566824.6:n.1109T>C
ENST00000567963.6:c.887T>C	ENSP00000455387.2:p.Leu296Pro
ENST00000568076.6:n.1478T>C
ENST00000568422.6:c.*286T>C	ENSP00000455549.2:n.*286T>C
ENST00000568452.6:n.1280T>C
ENST00000568497.6:c.80T>C	ENSP00000456414.2:p.Leu27Pro
ENST00000569430.7:c.1049T>C	ENSP00000454229.1:p.Leu350Pro
ENST00000628023.3:c.*345T>C	ENSP00000486178.1:n.*345T>C
ENST00000635861.1:c.*701T>C	ENSP00000490034.1:n.*701T>C
ENST00000635887.1:c.1049T>C	ENSP00000490709.1:p.Leu350Pro
ENST00000635958.1:n.1334T>C
ENST00000635973.1:c.800T>C	ENSP00000490363.1:p.Leu267Pro
ENST00000636017.1:c.*573T>C	ENSP00000490538.1:n.*573T>C
ENST00000636078.1:n.1171T>C
ENST00000636147.2:c.1049T>C MANE Select	ENSP00000490105.1:p.Leu350Pro
ENST00000636172.1:c.*573T>C	ENSP00000490505.1:n.*573T>C
ENST00000636228.1:c.743T>C	ENSP00000489627.1:p.Leu248Pro
ENST00000636351.1:n.943T>C
ENST00000636503.1:c.1049T>C	ENSP00000489824.1:p.Leu350Pro
ENST00000636685.1:n.730T>C
ENST00000636766.1:c.1049T>C	ENSP00000489841.1:p.Leu350Pro
ENST00000636839.1:n.1423T>C
ENST00000636853.1:n.1964T>C
ENST00000636866.1:c.1049T>C	ENSP00000490880.1:p.Leu350Pro
ENST00000636907.1:n.1200T>C
ENST00000636977.1:n.2419T>C
ENST00000637050.1:n.1438T>C
ENST00000637100.1:c.998T>C	ENSP00000490394.1:p.Leu333Pro
ENST00000637107.1:c.*573T>C	ENSP00000490248.1:n.*573T>C
ENST00000637184.1:c.1049T>C	ENSP00000489952.1:p.Leu350Pro
ENST00000637299.1:c.*858T>C	ENSP00000489823.1:n.*858T>C
ENST00000637376.1:c.1049T>C	ENSP00000490758.1:p.Leu350Pro
ENST00000637378.1:c.221T>C	ENSP00000490831.1:p.Leu74Pro
ENST00000637578.1:c.*573T>C	ENSP00000490206.1:n.*573T>C
ENST00000637699.1:c.960T>C	ENSP00000490049.1:n.960T>C
ENST00000637745.1:c.388T>C
ENST00000637871.1:c.*747T>C	ENSP00000490670.1:n.*747T>C
ENST00000638036.1:c.211T>C
ENST00000333496.13:c.977T>C	ENSP00000329171.9:p.Leu326Pro
ENST00000355477.9:c.*286T>C	ENSP00000347660.6:n.*286T>C
ENST00000357806.11:c.752T>C	ENSP00000350457.7:p.Leu251Pro
ENST00000357857.13:c.887T>C	ENSP00000350523.9:p.Leu296Pro
ENST00000359984.11:c.743T>C	ENSP00000353073.8:p.Leu248Pro
ENST00000360019.6:c.1049T>C	ENSP00000353116.2:p.Leu350Pro
ENST00000395653.8:c.749T>C	ENSP00000379014.4:p.Leu250Pro
ENST00000561689.5:n.1018T>C
ENST00000563874.5:n.2577T>C
ENST00000564091.5:c.138T>C
ENST00000565140.5:c.832T>C	ENSP00000455342.1:n.832T>C
ENST00000565316.5:c.998T>C	ENSP00000456117.1:p.Leu333Pro
ENST00000565354.5:n.362T>C
ENST00000566057.5:c.663T>C	ENSP00000456693.1:n.663T>C
ENST00000567963.5:c.906+365T>C	ENSP00000455387.1:n.906+365T>C
ENST00000568076.5:n.960T>C
ENST00000568224.4:c.815T>C	ENSP00000454253.1:p.Leu272Pro
ENST00000568422.5:c.*286T>C	ENSP00000455549.1:n.*286T>C
ENST00000568452.5:n.1177T>C
ENST00000569030.5:c.719T>C	ENSP00000454680.1:p.Leu240Pro
ENST00000569430.5:c.1049T>C	ENSP00000454229.1:p.Leu350Pro
ENST00000628023.2:c.*345T>C	ENSP00000486178.1:n.*345T>C
ENST00000631023.2:c.906+365T>C	ENSP00000486616.1:n.906+365T>C
NM_000086.2:c.1049T>C , LRG_689t1:c.1049T>C	NP_000077.1:p.Leu350Pro
NM_001042432.1:c.1049T>C , LRG_689t2:c.1049T>C	NP_001035897.1:p.Leu350Pro
NM_001286104.1:c.977T>C	NP_001273033.1:p.Leu326Pro
NM_001286105.1:c.749T>C	NP_001273034.1:p.Leu250Pro
NM_001286109.1:c.815T>C	NP_001273038.1:p.Leu272Pro
NM_001286110.1:c.887T>C	NP_001273039.1:p.Leu296Pro
NM_001042432.2:c.1049T>C MANE Select	NP_001035897.1:p.Leu350Pro
NM_001286104.2:c.977T>C	NP_001273033.1:p.Leu326Pro
NM_001286105.2:c.749T>C	NP_001273034.1:p.Leu250Pro
NM_001286109.2:c.815T>C	NP_001273038.1:p.Leu272Pro
NM_001286110.2:c.887T>C	NP_001273039.1:p.Leu296Pro