Canonical Allele Identifier: CA395344737

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28495351T>C (hg19) ; chr16:g.28484030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484030T>C , CM000678.2:g.28484030T>C	GRCh38
NC_000016.9:g.28495351T>C , CM000678.1:g.28495351T>C	GRCh37
NC_000016.8:g.28402852T>C	NCBI36
NG_008654.2:g.13273A>G , LRG_689:g.13273A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.694A>G	ENSP00000329171.9:p.Thr232Ala
ENST00000355477.10:c.622A>G	ENSP00000347660.7:p.Thr208Ala
ENST00000357857.14:c.604A>G	ENSP00000350523.9:p.Thr202Ala
ENST00000359984.12:c.766A>G	ENSP00000353073.9:p.Thr256Ala
ENST00000360019.8:c.694A>G	ENSP00000353116.3:p.Thr232Ala
ENST00000395653.9:c.307A>G	ENSP00000379014.5:p.Thr103Ala
ENST00000561689.6:n.1051A>G
ENST00000564091.6:c.106A>G	ENSP00000454466.2:p.Thr36Ala
ENST00000565316.6:c.766A>G	ENSP00000456117.1:p.Thr256Ala
ENST00000565778.6:c.397A>G	ENSP00000458015.1:p.Thr133Ala
ENST00000566083.6:n.1224A>G
ENST00000566824.6:n.746A>G
ENST00000567963.6:c.604A>G	ENSP00000455387.2:p.Thr202Ala
ENST00000568076.6:n.893A>G
ENST00000568422.6:c.*3A>G	ENSP00000455549.2:n.*3A>G
ENST00000568452.6:n.869A>G
ENST00000568472.6:n.642A>G
ENST00000568497.6:c.-204A>G	ENSP00000456414.2:n.-204A>G
ENST00000568558.6:c.469A>G	ENSP00000455603.2:p.Thr157Ala
ENST00000569430.7:c.766A>G	ENSP00000454229.1:p.Thr256Ala
ENST00000628023.3:c.*62A>G	ENSP00000486178.1:n.*62A>G
ENST00000635861.1:c.*290A>G	ENSP00000490034.1:n.*290A>G
ENST00000635887.1:c.766A>G	ENSP00000490709.1:p.Thr256Ala
ENST00000635958.1:n.877A>G
ENST00000635973.1:c.517A>G	ENSP00000490363.1:p.Thr173Ala
ENST00000636017.1:c.*290A>G	ENSP00000490538.1:n.*290A>G
ENST00000636078.1:n.808A>G
ENST00000636147.2:c.766A>G MANE Select	ENSP00000490105.1:p.Thr256Ala
ENST00000636172.1:c.*290A>G	ENSP00000490505.1:n.*290A>G
ENST00000636228.1:c.460A>G	ENSP00000489627.1:p.Thr154Ala
ENST00000636351.1:n.486A>G
ENST00000636503.1:c.766A>G	ENSP00000489824.1:p.Thr256Ala
ENST00000636685.1:n.273A>G
ENST00000636766.1:c.766A>G	ENSP00000489841.1:p.Thr256Ala
ENST00000636839.1:n.918A>G
ENST00000636853.1:n.1681A>G
ENST00000636866.1:c.766A>G	ENSP00000490880.1:p.Thr256Ala
ENST00000636907.1:n.917A>G
ENST00000636977.1:n.1834A>G
ENST00000637050.1:n.853A>G
ENST00000637100.1:c.766A>G	ENSP00000490394.1:p.Thr256Ala
ENST00000637107.1:c.*290A>G	ENSP00000490248.1:n.*290A>G
ENST00000637184.1:c.766A>G	ENSP00000489952.1:p.Thr256Ala
ENST00000637299.1:c.*575A>G	ENSP00000489823.1:n.*575A>G
ENST00000637376.1:c.766A>G	ENSP00000490758.1:p.Thr256Ala
ENST00000637578.1:c.*290A>G	ENSP00000490206.1:n.*290A>G
ENST00000637699.1:c.549A>G	ENSP00000490049.1:n.549A>G
ENST00000637745.1:c.105A>G
ENST00000637871.1:c.*290A>G	ENSP00000490670.1:n.*290A>G
ENST00000333496.13:c.694A>G	ENSP00000329171.9:p.Thr232Ala
ENST00000355477.9:c.*3A>G	ENSP00000347660.6:n.*3A>G
ENST00000357806.11:c.469A>G	ENSP00000350457.7:p.Thr157Ala
ENST00000357857.13:c.604A>G	ENSP00000350523.9:p.Thr202Ala
ENST00000359984.11:c.460A>G	ENSP00000353073.8:p.Thr154Ala
ENST00000360019.6:c.766A>G	ENSP00000353116.2:p.Thr256Ala
ENST00000395653.8:c.466A>G	ENSP00000379014.4:p.Thr156Ala
ENST00000561689.5:n.607A>G
ENST00000563874.5:n.2120A>G
ENST00000564574.5:n.814A>G
ENST00000565047.1:n.360A>G
ENST00000565140.5:c.549A>G	ENSP00000455342.1:n.549A>G
ENST00000565316.5:c.766A>G	ENSP00000456117.1:p.Thr256Ala
ENST00000565688.5:c.517A>G	ENSP00000456122.1:p.Thr173Ala
ENST00000565778.5:c.397A>G	ENSP00000458015.1:p.Thr133Ala
ENST00000566057.5:c.380A>G	ENSP00000456693.1:n.380A>G
ENST00000566083.5:n.997A>G
ENST00000566824.5:n.815A>G
ENST00000567495.5:c.*3A>G	ENSP00000456013.1:n.*3A>G
ENST00000567963.5:c.766A>G	ENSP00000455387.1:p.Thr256Ala
ENST00000568076.5:n.549A>G
ENST00000568224.4:c.532A>G	ENSP00000454253.1:p.Thr178Ala
ENST00000568422.5:c.*3A>G	ENSP00000455549.1:n.*3A>G
ENST00000568452.5:n.766A>G
ENST00000568472.5:n.246A>G
ENST00000568497.5:c.*62A>G	ENSP00000456414.1:n.*62A>G
ENST00000568558.5:c.307A>G	ENSP00000455603.1:p.Thr103Ala
ENST00000569030.5:c.461-1358A>G	ENSP00000454680.1:n.461-1358A>G
ENST00000569430.5:c.766A>G	ENSP00000454229.1:p.Thr256Ala
ENST00000628023.2:c.*62A>G	ENSP00000486178.1:n.*62A>G
ENST00000631023.2:c.766A>G	ENSP00000486616.1:p.Thr256Ala
NM_000086.2:c.766A>G , LRG_689t1:c.766A>G	NP_000077.1:p.Thr256Ala
NM_001042432.1:c.766A>G , LRG_689t2:c.766A>G	NP_001035897.1:p.Thr256Ala
NM_001286104.1:c.694A>G	NP_001273033.1:p.Thr232Ala
NM_001286105.1:c.466A>G	NP_001273034.1:p.Thr156Ala
NM_001286109.1:c.532A>G	NP_001273038.1:p.Thr178Ala
NM_001286110.1:c.604A>G	NP_001273039.1:p.Thr202Ala
NM_001042432.2:c.766A>G MANE Select	NP_001035897.1:p.Thr256Ala
NM_001286104.2:c.694A>G	NP_001273033.1:p.Thr232Ala
NM_001286105.2:c.466A>G	NP_001273034.1:p.Thr156Ala
NM_001286109.2:c.532A>G	NP_001273038.1:p.Thr178Ala
NM_001286110.2:c.604A>G	NP_001273039.1:p.Thr202Ala