Canonical Allele Identifier: CA395344844

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28495392T>A (hg19) ; chr16:g.28484071T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484071T>A , CM000678.2:g.28484071T>A	GRCh38
NC_000016.9:g.28495392T>A , CM000678.1:g.28495392T>A	GRCh37
NC_000016.8:g.28402893T>A	NCBI36
NG_008654.2:g.13232A>T , LRG_689:g.13232A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.653A>T	ENSP00000329171.9:p.Glu218Val
ENST00000355477.10:c.581A>T	ENSP00000347660.7:p.Glu194Val
ENST00000357857.14:c.563A>T	ENSP00000350523.9:p.Glu188Val
ENST00000359984.12:c.725A>T	ENSP00000353073.9:p.Glu242Val
ENST00000360019.8:c.653A>T	ENSP00000353116.3:p.Glu218Val
ENST00000395653.9:c.266A>T	ENSP00000379014.5:p.Glu89Val
ENST00000561689.6:n.1010A>T
ENST00000564091.6:c.65A>T	ENSP00000454466.2:p.Glu22Val
ENST00000565316.6:c.725A>T	ENSP00000456117.1:p.Glu242Val
ENST00000565778.6:c.356A>T	ENSP00000458015.1:p.Glu119Val
ENST00000566083.6:n.1183A>T
ENST00000566824.6:n.705A>T
ENST00000567963.6:c.563A>T	ENSP00000455387.2:p.Glu188Val
ENST00000568076.6:n.852A>T
ENST00000568422.6:c.508A>T	ENSP00000455549.2:p.Lys170Ter
ENST00000568452.6:n.828A>T
ENST00000568472.6:n.601A>T
ENST00000568497.6:c.-245A>T	ENSP00000456414.2:n.-245A>T
ENST00000568558.6:c.428A>T	ENSP00000455603.2:p.Glu143Val
ENST00000569430.7:c.725A>T	ENSP00000454229.1:p.Glu242Val
ENST00000628023.3:c.*21A>T	ENSP00000486178.1:n.*21A>T
ENST00000635861.1:c.*249A>T	ENSP00000490034.1:n.*249A>T
ENST00000635887.1:c.725A>T	ENSP00000490709.1:p.Glu242Val
ENST00000635958.1:n.836A>T
ENST00000635973.1:c.476A>T	ENSP00000490363.1:p.Glu159Val
ENST00000636017.1:c.*249A>T	ENSP00000490538.1:n.*249A>T
ENST00000636078.1:n.767A>T
ENST00000636147.2:c.725A>T MANE Select	ENSP00000490105.1:p.Glu242Val
ENST00000636172.1:c.*249A>T	ENSP00000490505.1:n.*249A>T
ENST00000636228.1:c.419A>T	ENSP00000489627.1:p.Glu140Val
ENST00000636351.1:n.445A>T
ENST00000636503.1:c.725A>T	ENSP00000489824.1:p.Glu242Val
ENST00000636685.1:n.232A>T
ENST00000636766.1:c.725A>T	ENSP00000489841.1:p.Glu242Val
ENST00000636839.1:n.877A>T
ENST00000636853.1:n.1640A>T
ENST00000636866.1:c.725A>T	ENSP00000490880.1:p.Glu242Val
ENST00000636907.1:n.876A>T
ENST00000636977.1:n.1793A>T
ENST00000637050.1:n.812A>T
ENST00000637100.1:c.725A>T	ENSP00000490394.1:p.Glu242Val
ENST00000637107.1:c.*249A>T	ENSP00000490248.1:n.*249A>T
ENST00000637184.1:c.725A>T	ENSP00000489952.1:p.Glu242Val
ENST00000637299.1:c.*534A>T	ENSP00000489823.1:n.*534A>T
ENST00000637376.1:c.725A>T	ENSP00000490758.1:p.Glu242Val
ENST00000637578.1:c.*249A>T	ENSP00000490206.1:n.*249A>T
ENST00000637699.1:c.508A>T	ENSP00000490049.1:p.Lys170Ter
ENST00000637745.1:c.64A>T
ENST00000637871.1:c.*249A>T	ENSP00000490670.1:n.*249A>T
ENST00000333496.13:c.653A>T	ENSP00000329171.9:p.Glu218Val
ENST00000355477.9:c.508A>T	ENSP00000347660.6:p.Lys170Ter
ENST00000357806.11:c.428A>T	ENSP00000350457.7:p.Glu143Val
ENST00000357857.13:c.563A>T	ENSP00000350523.9:p.Glu188Val
ENST00000359984.11:c.419A>T	ENSP00000353073.8:p.Glu140Val
ENST00000360019.6:c.725A>T	ENSP00000353116.2:p.Glu242Val
ENST00000395653.8:c.425A>T	ENSP00000379014.4:p.Glu142Val
ENST00000561689.5:n.566A>T
ENST00000563874.5:n.2079A>T
ENST00000564574.5:n.773A>T
ENST00000565047.1:n.319A>T
ENST00000565140.5:c.508A>T	ENSP00000455342.1:p.Lys170Ter
ENST00000565316.5:c.725A>T	ENSP00000456117.1:p.Glu242Val
ENST00000565688.5:c.476A>T	ENSP00000456122.1:p.Glu159Val
ENST00000565778.5:c.356A>T	ENSP00000458015.1:p.Glu119Val
ENST00000566057.5:c.339A>T	ENSP00000456693.1:n.339A>T
ENST00000566083.5:n.956A>T
ENST00000566824.5:n.774A>T
ENST00000567495.5:c.508A>T	ENSP00000456013.1:p.Lys170Ter
ENST00000567963.5:c.725A>T	ENSP00000455387.1:p.Glu242Val
ENST00000568076.5:n.508A>T
ENST00000568224.4:c.491A>T	ENSP00000454253.1:p.Glu164Val
ENST00000568422.5:c.361A>T	ENSP00000455549.1:p.Lys121Ter
ENST00000568452.5:n.725A>T
ENST00000568472.5:n.205A>T
ENST00000568497.5:c.*21A>T	ENSP00000456414.1:n.*21A>T
ENST00000568558.5:c.266A>T	ENSP00000455603.1:p.Glu89Val
ENST00000569030.5:c.461-1399A>T	ENSP00000454680.1:n.461-1399A>T
ENST00000569430.5:c.725A>T	ENSP00000454229.1:p.Glu242Val
ENST00000628023.2:c.*21A>T	ENSP00000486178.1:n.*21A>T
ENST00000631023.2:c.725A>T	ENSP00000486616.1:p.Glu242Val
NM_000086.2:c.725A>T , LRG_689t1:c.725A>T	NP_000077.1:p.Glu242Val
NM_001042432.1:c.725A>T , LRG_689t2:c.725A>T	NP_001035897.1:p.Glu242Val
NM_001286104.1:c.653A>T	NP_001273033.1:p.Glu218Val
NM_001286105.1:c.425A>T	NP_001273034.1:p.Glu142Val
NM_001286109.1:c.491A>T	NP_001273038.1:p.Glu164Val
NM_001286110.1:c.563A>T	NP_001273039.1:p.Glu188Val
NM_001042432.2:c.725A>T MANE Select	NP_001035897.1:p.Glu242Val
NM_001286104.2:c.653A>T	NP_001273033.1:p.Glu218Val
NM_001286105.2:c.425A>T	NP_001273034.1:p.Glu142Val
NM_001286109.2:c.491A>T	NP_001273038.1:p.Glu164Val
NM_001286110.2:c.563A>T	NP_001273039.1:p.Glu188Val