Canonical Allele Identifier: CA395343931

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493434G>C (hg19) ; chr16:g.28482113G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482113G>C , CM000678.2:g.28482113G>C	GRCh38
NC_000016.9:g.28493434G>C , CM000678.1:g.28493434G>C	GRCh37
NC_000016.8:g.28400935G>C	NCBI36
NG_008654.2:g.15190C>G , LRG_689:g.15190C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.976C>G	ENSP00000329171.9:p.Leu326Val
ENST00000355477.10:c.904C>G	ENSP00000347660.7:p.Leu302Val
ENST00000357857.14:c.886C>G	ENSP00000350523.9:p.Leu296Val
ENST00000359984.12:c.1048C>G	ENSP00000353073.9:p.Leu350Val
ENST00000360019.8:c.976C>G	ENSP00000353116.3:p.Leu326Val
ENST00000395653.9:c.589C>G	ENSP00000379014.5:p.Leu197Val
ENST00000561689.6:n.1461C>G
ENST00000564091.6:c.388C>G	ENSP00000454466.2:p.Leu130Val
ENST00000565316.6:c.997C>G	ENSP00000456117.1:p.Leu333Val
ENST00000566824.6:n.1108C>G
ENST00000567963.6:c.886C>G	ENSP00000455387.2:p.Leu296Val
ENST00000568076.6:n.1477C>G
ENST00000568422.6:c.*285C>G	ENSP00000455549.2:n.*285C>G
ENST00000568452.6:n.1279C>G
ENST00000568497.6:c.79C>G	ENSP00000456414.2:p.Leu27Val
ENST00000569430.7:c.1048C>G	ENSP00000454229.1:p.Leu350Val
ENST00000628023.3:c.*344C>G	ENSP00000486178.1:n.*344C>G
ENST00000635861.1:c.*700C>G	ENSP00000490034.1:n.*700C>G
ENST00000635887.1:c.1048C>G	ENSP00000490709.1:p.Leu350Val
ENST00000635958.1:n.1333C>G
ENST00000635973.1:c.799C>G	ENSP00000490363.1:p.Leu267Val
ENST00000636017.1:c.*572C>G	ENSP00000490538.1:n.*572C>G
ENST00000636078.1:n.1170C>G
ENST00000636147.2:c.1048C>G MANE Select	ENSP00000490105.1:p.Leu350Val
ENST00000636172.1:c.*572C>G	ENSP00000490505.1:n.*572C>G
ENST00000636228.1:c.742C>G	ENSP00000489627.1:p.Leu248Val
ENST00000636351.1:n.942C>G
ENST00000636503.1:c.1048C>G	ENSP00000489824.1:p.Leu350Val
ENST00000636685.1:n.729C>G
ENST00000636766.1:c.1048C>G	ENSP00000489841.1:p.Leu350Val
ENST00000636839.1:n.1422C>G
ENST00000636853.1:n.1963C>G
ENST00000636866.1:c.1048C>G	ENSP00000490880.1:p.Leu350Val
ENST00000636907.1:n.1199C>G
ENST00000636977.1:n.2418C>G
ENST00000637050.1:n.1437C>G
ENST00000637100.1:c.997C>G	ENSP00000490394.1:p.Leu333Val
ENST00000637107.1:c.*572C>G	ENSP00000490248.1:n.*572C>G
ENST00000637184.1:c.1048C>G	ENSP00000489952.1:p.Leu350Val
ENST00000637299.1:c.*857C>G	ENSP00000489823.1:n.*857C>G
ENST00000637376.1:c.1048C>G	ENSP00000490758.1:p.Leu350Val
ENST00000637378.1:c.220C>G	ENSP00000490831.1:p.Leu74Val
ENST00000637578.1:c.*572C>G	ENSP00000490206.1:n.*572C>G
ENST00000637699.1:c.959C>G	ENSP00000490049.1:n.959C>G
ENST00000637745.1:c.387C>G
ENST00000637871.1:c.*746C>G	ENSP00000490670.1:n.*746C>G
ENST00000638036.1:c.210C>G
ENST00000333496.13:c.976C>G	ENSP00000329171.9:p.Leu326Val
ENST00000355477.9:c.*285C>G	ENSP00000347660.6:n.*285C>G
ENST00000357806.11:c.751C>G	ENSP00000350457.7:p.Leu251Val
ENST00000357857.13:c.886C>G	ENSP00000350523.9:p.Leu296Val
ENST00000359984.11:c.742C>G	ENSP00000353073.8:p.Leu248Val
ENST00000360019.6:c.1048C>G	ENSP00000353116.2:p.Leu350Val
ENST00000395653.8:c.748C>G	ENSP00000379014.4:p.Leu250Val
ENST00000561689.5:n.1017C>G
ENST00000563874.5:n.2576C>G
ENST00000564091.5:c.137C>G
ENST00000565140.5:c.831C>G	ENSP00000455342.1:n.831C>G
ENST00000565316.5:c.997C>G	ENSP00000456117.1:p.Leu333Val
ENST00000565354.5:n.361C>G
ENST00000566057.5:c.662C>G	ENSP00000456693.1:n.662C>G
ENST00000567963.5:c.906+364C>G	ENSP00000455387.1:n.906+364C>G
ENST00000568076.5:n.959C>G
ENST00000568224.4:c.814C>G	ENSP00000454253.1:p.Leu272Val
ENST00000568422.5:c.*285C>G	ENSP00000455549.1:n.*285C>G
ENST00000568452.5:n.1176C>G
ENST00000569030.5:c.718C>G	ENSP00000454680.1:p.Leu240Val
ENST00000569430.5:c.1048C>G	ENSP00000454229.1:p.Leu350Val
ENST00000628023.2:c.*344C>G	ENSP00000486178.1:n.*344C>G
ENST00000631023.2:c.906+364C>G	ENSP00000486616.1:n.906+364C>G
NM_000086.2:c.1048C>G , LRG_689t1:c.1048C>G	NP_000077.1:p.Leu350Val
NM_001042432.1:c.1048C>G , LRG_689t2:c.1048C>G	NP_001035897.1:p.Leu350Val
NM_001286104.1:c.976C>G	NP_001273033.1:p.Leu326Val
NM_001286105.1:c.748C>G	NP_001273034.1:p.Leu250Val
NM_001286109.1:c.814C>G	NP_001273038.1:p.Leu272Val
NM_001286110.1:c.886C>G	NP_001273039.1:p.Leu296Val
NM_001042432.2:c.1048C>G MANE Select	NP_001035897.1:p.Leu350Val
NM_001286104.2:c.976C>G	NP_001273033.1:p.Leu326Val
NM_001286105.2:c.748C>G	NP_001273034.1:p.Leu250Val
NM_001286109.2:c.814C>G	NP_001273038.1:p.Leu272Val
NM_001286110.2:c.886C>G	NP_001273039.1:p.Leu296Val