Canonical Allele Identifier: CA494268684

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493429C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482108C>G , CM000678.2:g.28482108C>G	GRCh38
NC_000016.9:g.28493429C>G , CM000678.1:g.28493429C>G	GRCh37
NC_000016.8:g.28400930C>G	NCBI36
NG_008654.2:g.15195G>C , LRG_689:g.15195G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.981G>C	ENSP00000329171.9:p.Leu327=
ENST00000355477.10:c.909G>C	ENSP00000347660.7:p.Leu303=
ENST00000357857.14:c.891G>C	ENSP00000350523.9:p.Leu297=
ENST00000359984.12:c.1053G>C	ENSP00000353073.9:p.Leu351=
ENST00000360019.8:c.981G>C	ENSP00000353116.3:p.Leu327=
ENST00000395653.9:c.594G>C	ENSP00000379014.5:p.Leu198=
ENST00000561689.6:n.1466G>C
ENST00000564091.6:c.393G>C	ENSP00000454466.2:p.Leu131=
ENST00000565316.6:c.1002G>C	ENSP00000456117.1:p.Leu334=
ENST00000566824.6:n.1113G>C
ENST00000567963.6:c.891G>C	ENSP00000455387.2:p.Leu297=
ENST00000568076.6:n.1482G>C
ENST00000568422.6:c.*290G>C	ENSP00000455549.2:n.*290G>C
ENST00000568452.6:n.1284G>C
ENST00000568497.6:c.84G>C	ENSP00000456414.2:p.Leu28=
ENST00000569430.7:c.1053G>C	ENSP00000454229.1:p.Leu351=
ENST00000628023.3:c.*349G>C	ENSP00000486178.1:n.*349G>C
ENST00000635861.1:c.*705G>C	ENSP00000490034.1:n.*705G>C
ENST00000635887.1:c.1053G>C	ENSP00000490709.1:p.Leu351=
ENST00000635958.1:n.1338G>C
ENST00000635973.1:c.804G>C	ENSP00000490363.1:p.Leu268=
ENST00000636017.1:c.*577G>C	ENSP00000490538.1:n.*577G>C
ENST00000636078.1:n.1175G>C
ENST00000636147.2:c.1053G>C MANE Select	ENSP00000490105.1:p.Leu351=
ENST00000636172.1:c.*577G>C	ENSP00000490505.1:n.*577G>C
ENST00000636228.1:c.747G>C	ENSP00000489627.1:p.Leu249=
ENST00000636351.1:n.947G>C
ENST00000636503.1:c.1053G>C	ENSP00000489824.1:p.Leu351=
ENST00000636685.1:n.734G>C
ENST00000636766.1:c.1053G>C	ENSP00000489841.1:p.Leu351=
ENST00000636839.1:n.1427G>C
ENST00000636853.1:n.1968G>C
ENST00000636866.1:c.1053G>C	ENSP00000490880.1:p.Leu351=
ENST00000636907.1:n.1204G>C
ENST00000636977.1:n.2423G>C
ENST00000637050.1:n.1442G>C
ENST00000637100.1:c.1002G>C	ENSP00000490394.1:p.Leu334=
ENST00000637107.1:c.*577G>C	ENSP00000490248.1:n.*577G>C
ENST00000637184.1:c.1053G>C	ENSP00000489952.1:p.Leu351=
ENST00000637299.1:c.*862G>C	ENSP00000489823.1:n.*862G>C
ENST00000637376.1:c.1053G>C	ENSP00000490758.1:p.Leu351=
ENST00000637378.1:c.225G>C	ENSP00000490831.1:p.Leu75=
ENST00000637578.1:c.*577G>C	ENSP00000490206.1:n.*577G>C
ENST00000637699.1:c.964G>C	ENSP00000490049.1:n.964G>C
ENST00000637745.1:c.392G>C
ENST00000637871.1:c.*751G>C	ENSP00000490670.1:n.*751G>C
ENST00000638036.1:c.215G>C
ENST00000333496.13:c.981G>C	ENSP00000329171.9:p.Leu327=
ENST00000355477.9:c.*290G>C	ENSP00000347660.6:n.*290G>C
ENST00000357806.11:c.756G>C	ENSP00000350457.7:p.Leu252=
ENST00000357857.13:c.891G>C	ENSP00000350523.9:p.Leu297=
ENST00000359984.11:c.747G>C	ENSP00000353073.8:p.Leu249=
ENST00000360019.6:c.1053G>C	ENSP00000353116.2:p.Leu351=
ENST00000395653.8:c.753G>C	ENSP00000379014.4:p.Leu251=
ENST00000561689.5:n.1022G>C
ENST00000563874.5:n.2581G>C
ENST00000564091.5:c.142G>C
ENST00000565140.5:c.836G>C	ENSP00000455342.1:n.836G>C
ENST00000565316.5:c.1002G>C	ENSP00000456117.1:p.Leu334=
ENST00000565354.5:n.366G>C
ENST00000566057.5:c.667G>C	ENSP00000456693.1:n.667G>C
ENST00000567963.5:c.906+369G>C	ENSP00000455387.1:n.906+369G>C
ENST00000568076.5:n.964G>C
ENST00000568224.4:c.819G>C	ENSP00000454253.1:p.Leu273=
ENST00000568422.5:c.*290G>C	ENSP00000455549.1:n.*290G>C
ENST00000568452.5:n.1181G>C
ENST00000569030.5:c.723G>C	ENSP00000454680.1:p.Leu241=
ENST00000569430.5:c.1053G>C	ENSP00000454229.1:p.Leu351=
ENST00000628023.2:c.*349G>C	ENSP00000486178.1:n.*349G>C
ENST00000631023.2:c.906+369G>C	ENSP00000486616.1:n.906+369G>C
NM_000086.2:c.1053G>C , LRG_689t1:c.1053G>C	NP_000077.1:p.Leu351=
NM_001042432.1:c.1053G>C , LRG_689t2:c.1053G>C	NP_001035897.1:p.Leu351=
NM_001286104.1:c.981G>C	NP_001273033.1:p.Leu327=
NM_001286105.1:c.753G>C	NP_001273034.1:p.Leu251=
NM_001286109.1:c.819G>C	NP_001273038.1:p.Leu273=
NM_001286110.1:c.891G>C	NP_001273039.1:p.Leu297=
NM_001042432.2:c.1053G>C MANE Select	NP_001035897.1:p.Leu351=
NM_001286104.2:c.981G>C	NP_001273033.1:p.Leu327=
NM_001286105.2:c.753G>C	NP_001273034.1:p.Leu251=
NM_001286109.2:c.819G>C	NP_001273038.1:p.Leu273=
NM_001286110.2:c.891G>C	NP_001273039.1:p.Leu297=