Canonical Allele Identifier: CA395344944

Gene: CLN3

Linked Data

• dbSNP Id: rs1175349910
• gnomAD v2: 16-28495427-C-G
• gnomAD v4: 16-28484106-C-G
• MyVariant Identifiers: chr16:g.28495427C>G (hg19) ; chr16:g.28484106C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484106C>G , CM000678.2:g.28484106C>G	GRCh38
NC_000016.9:g.28495427C>G , CM000678.1:g.28495427C>G	GRCh37
NC_000016.8:g.28402928C>G	NCBI36
NG_008654.2:g.13197G>C , LRG_689:g.13197G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.618G>C	ENSP00000329171.9:p.Leu206Phe
ENST00000355477.10:c.546G>C	ENSP00000347660.7:p.Leu182Phe
ENST00000357857.14:c.528G>C	ENSP00000350523.9:p.Leu176Phe
ENST00000359984.12:c.690G>C	ENSP00000353073.9:p.Leu230Phe
ENST00000360019.8:c.618G>C	ENSP00000353116.3:p.Leu206Phe
ENST00000395653.9:c.231G>C	ENSP00000379014.5:p.Leu77Phe
ENST00000561689.6:n.975G>C
ENST00000564091.6:c.30G>C	ENSP00000454466.2:p.Leu10Phe
ENST00000565316.6:c.690G>C	ENSP00000456117.1:p.Leu230Phe
ENST00000565778.6:c.321G>C	ENSP00000458015.1:p.Leu107Phe
ENST00000566083.6:n.1148G>C
ENST00000566824.6:n.670G>C
ENST00000567495.6:c.*149G>C	ENSP00000456013.2:n.*149G>C
ENST00000567963.6:c.528G>C	ENSP00000455387.2:p.Leu176Phe
ENST00000568076.6:n.817G>C
ENST00000568422.6:c.473G>C	ENSP00000455549.2:p.Cys158Ser
ENST00000568452.6:n.793G>C
ENST00000568472.6:n.566G>C
ENST00000568497.6:c.-280G>C	ENSP00000456414.2:n.-280G>C
ENST00000568558.6:c.393G>C	ENSP00000455603.2:p.Leu131Phe
ENST00000569430.7:c.690G>C	ENSP00000454229.1:p.Leu230Phe
ENST00000628023.3:c.235G>C	ENSP00000486178.1:p.Ala79Pro
ENST00000635861.1:c.*214G>C	ENSP00000490034.1:n.*214G>C
ENST00000635887.1:c.690G>C	ENSP00000490709.1:p.Leu230Phe
ENST00000635958.1:n.801G>C
ENST00000635973.1:c.441G>C	ENSP00000490363.1:p.Leu147Phe
ENST00000636017.1:c.*214G>C	ENSP00000490538.1:n.*214G>C
ENST00000636078.1:n.732G>C
ENST00000636147.2:c.690G>C MANE Select	ENSP00000490105.1:p.Leu230Phe
ENST00000636172.1:c.*214G>C	ENSP00000490505.1:n.*214G>C
ENST00000636228.1:c.384G>C	ENSP00000489627.1:p.Leu128Phe
ENST00000636351.1:n.410G>C
ENST00000636503.1:c.690G>C	ENSP00000489824.1:p.Leu230Phe
ENST00000636685.1:n.197G>C
ENST00000636766.1:c.690G>C	ENSP00000489841.1:p.Leu230Phe
ENST00000636839.1:n.842G>C
ENST00000636853.1:n.1605G>C
ENST00000636866.1:c.690G>C	ENSP00000490880.1:p.Leu230Phe
ENST00000636907.1:n.841G>C
ENST00000636977.1:n.1758G>C
ENST00000637050.1:n.777G>C
ENST00000637100.1:c.690G>C	ENSP00000490394.1:p.Leu230Phe
ENST00000637107.1:c.*214G>C	ENSP00000490248.1:n.*214G>C
ENST00000637184.1:c.690G>C	ENSP00000489952.1:p.Leu230Phe
ENST00000637299.1:c.*499G>C	ENSP00000489823.1:n.*499G>C
ENST00000637376.1:c.690G>C	ENSP00000490758.1:p.Leu230Phe
ENST00000637578.1:c.*214G>C	ENSP00000490206.1:n.*214G>C
ENST00000637699.1:c.473G>C	ENSP00000490049.1:p.Cys158Ser
ENST00000637745.1:c.29G>C
ENST00000637871.1:c.*214G>C	ENSP00000490670.1:n.*214G>C
ENST00000333496.13:c.618G>C	ENSP00000329171.9:p.Leu206Phe
ENST00000355477.9:c.473G>C	ENSP00000347660.6:p.Cys158Ser
ENST00000357806.11:c.393G>C	ENSP00000350457.7:p.Leu131Phe
ENST00000357857.13:c.528G>C	ENSP00000350523.9:p.Leu176Phe
ENST00000359984.11:c.384G>C	ENSP00000353073.8:p.Leu128Phe
ENST00000360019.6:c.690G>C	ENSP00000353116.2:p.Leu230Phe
ENST00000395653.8:c.390G>C	ENSP00000379014.4:p.Leu130Phe
ENST00000561689.5:n.531G>C
ENST00000563874.5:n.2044G>C
ENST00000564574.5:n.738G>C
ENST00000565047.1:n.284G>C
ENST00000565140.5:c.473G>C	ENSP00000455342.1:p.Cys158Ser
ENST00000565316.5:c.690G>C	ENSP00000456117.1:p.Leu230Phe
ENST00000565688.5:c.441G>C	ENSP00000456122.1:p.Leu147Phe
ENST00000565778.5:c.321G>C	ENSP00000458015.1:p.Leu107Phe
ENST00000566057.5:c.304G>C	ENSP00000456693.1:p.Ala102Pro
ENST00000566083.5:n.921G>C
ENST00000566824.5:n.739G>C
ENST00000567495.5:c.473G>C	ENSP00000456013.1:p.Cys158Ser
ENST00000567963.5:c.690G>C	ENSP00000455387.1:p.Leu230Phe
ENST00000568076.5:n.473G>C
ENST00000568224.4:c.456G>C	ENSP00000454253.1:p.Leu152Phe
ENST00000568422.5:c.326G>C	ENSP00000455549.1:p.Cys109Ser
ENST00000568452.5:n.690G>C
ENST00000568472.5:n.170G>C
ENST00000568497.5:c.235G>C	ENSP00000456414.1:p.Ala79Pro
ENST00000568558.5:c.231G>C	ENSP00000455603.1:p.Leu77Phe
ENST00000569030.5:c.461-1434G>C	ENSP00000454680.1:n.461-1434G>C
ENST00000569430.5:c.690G>C	ENSP00000454229.1:p.Leu230Phe
ENST00000628023.2:c.235G>C	ENSP00000486178.1:p.Ala79Pro
ENST00000631023.2:c.690G>C	ENSP00000486616.1:p.Leu230Phe
NM_000086.2:c.690G>C , LRG_689t1:c.690G>C	NP_000077.1:p.Leu230Phe
NM_001042432.1:c.690G>C , LRG_689t2:c.690G>C	NP_001035897.1:p.Leu230Phe
NM_001286104.1:c.618G>C	NP_001273033.1:p.Leu206Phe
NM_001286105.1:c.390G>C	NP_001273034.1:p.Leu130Phe
NM_001286109.1:c.456G>C	NP_001273038.1:p.Leu152Phe
NM_001286110.1:c.528G>C	NP_001273039.1:p.Leu176Phe
NM_001042432.2:c.690G>C MANE Select	NP_001035897.1:p.Leu230Phe
NM_001286104.2:c.618G>C	NP_001273033.1:p.Leu206Phe
NM_001286105.2:c.390G>C	NP_001273034.1:p.Leu130Phe
NM_001286109.2:c.456G>C	NP_001273038.1:p.Leu152Phe
NM_001286110.2:c.528G>C	NP_001273039.1:p.Leu176Phe