Canonical Allele Identifier: CA395344156

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493481C>A (hg19) ; chr16:g.28482160C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482160C>A , CM000678.2:g.28482160C>A	GRCh38
NC_000016.9:g.28493481C>A , CM000678.1:g.28493481C>A	GRCh37
NC_000016.8:g.28400982C>A	NCBI36
NG_008654.2:g.15143G>T , LRG_689:g.15143G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.929G>T	ENSP00000329171.9:p.Arg310Leu
ENST00000355477.10:c.857G>T	ENSP00000347660.7:p.Arg286Leu
ENST00000357857.14:c.839G>T	ENSP00000350523.9:p.Arg280Leu
ENST00000359984.12:c.1001G>T	ENSP00000353073.9:p.Arg334Leu
ENST00000360019.8:c.929G>T	ENSP00000353116.3:p.Arg310Leu
ENST00000395653.9:c.542G>T	ENSP00000379014.5:p.Arg181Leu
ENST00000561689.6:n.1414G>T
ENST00000564091.6:c.341G>T	ENSP00000454466.2:p.Arg114Leu
ENST00000565316.6:c.950G>T	ENSP00000456117.1:p.Arg317Leu
ENST00000566824.6:n.1061G>T
ENST00000567963.6:c.839G>T	ENSP00000455387.2:p.Arg280Leu
ENST00000568076.6:n.1430G>T
ENST00000568422.6:c.*238G>T	ENSP00000455549.2:n.*238G>T
ENST00000568452.6:n.1232G>T
ENST00000568497.6:c.32G>T	ENSP00000456414.2:p.Arg11Leu
ENST00000569430.7:c.1001G>T	ENSP00000454229.1:p.Arg334Leu
ENST00000628023.3:c.*297G>T	ENSP00000486178.1:n.*297G>T
ENST00000635861.1:c.*653G>T	ENSP00000490034.1:n.*653G>T
ENST00000635887.1:c.1001G>T	ENSP00000490709.1:p.Arg334Leu
ENST00000635958.1:n.1286G>T
ENST00000635973.1:c.752G>T	ENSP00000490363.1:p.Arg251Leu
ENST00000636017.1:c.*525G>T	ENSP00000490538.1:n.*525G>T
ENST00000636078.1:n.1123G>T
ENST00000636147.2:c.1001G>T MANE Select	ENSP00000490105.1:p.Arg334Leu
ENST00000636172.1:c.*525G>T	ENSP00000490505.1:n.*525G>T
ENST00000636228.1:c.695G>T	ENSP00000489627.1:p.Arg232Leu
ENST00000636351.1:n.895G>T
ENST00000636503.1:c.1001G>T	ENSP00000489824.1:p.Arg334Leu
ENST00000636685.1:n.682G>T
ENST00000636766.1:c.1001G>T	ENSP00000489841.1:p.Arg334Leu
ENST00000636839.1:n.1375G>T
ENST00000636853.1:n.1916G>T
ENST00000636866.1:c.1001G>T	ENSP00000490880.1:p.Arg334Leu
ENST00000636907.1:n.1152G>T
ENST00000636977.1:n.2371G>T
ENST00000637050.1:n.1390G>T
ENST00000637100.1:c.950G>T	ENSP00000490394.1:p.Arg317Leu
ENST00000637107.1:c.*525G>T	ENSP00000490248.1:n.*525G>T
ENST00000637184.1:c.1001G>T	ENSP00000489952.1:p.Arg334Leu
ENST00000637299.1:c.*810G>T	ENSP00000489823.1:n.*810G>T
ENST00000637376.1:c.1001G>T	ENSP00000490758.1:p.Arg334Leu
ENST00000637378.1:c.173G>T	ENSP00000490831.1:p.Arg58Leu
ENST00000637578.1:c.*525G>T	ENSP00000490206.1:n.*525G>T
ENST00000637699.1:c.912G>T	ENSP00000490049.1:n.912G>T
ENST00000637745.1:c.340G>T
ENST00000637871.1:c.*699G>T	ENSP00000490670.1:n.*699G>T
ENST00000638036.1:c.163G>T
ENST00000333496.13:c.929G>T	ENSP00000329171.9:p.Arg310Leu
ENST00000355477.9:c.*238G>T	ENSP00000347660.6:n.*238G>T
ENST00000357806.11:c.704G>T	ENSP00000350457.7:p.Arg235Leu
ENST00000357857.13:c.839G>T	ENSP00000350523.9:p.Arg280Leu
ENST00000359984.11:c.695G>T	ENSP00000353073.8:p.Arg232Leu
ENST00000360019.6:c.1001G>T	ENSP00000353116.2:p.Arg334Leu
ENST00000395653.8:c.701G>T	ENSP00000379014.4:p.Arg234Leu
ENST00000561689.5:n.970G>T
ENST00000563874.5:n.2529G>T
ENST00000564091.5:c.90G>T
ENST00000565140.5:c.784G>T	ENSP00000455342.1:n.784G>T
ENST00000565316.5:c.950G>T	ENSP00000456117.1:p.Arg317Leu
ENST00000565354.5:n.314G>T
ENST00000566057.5:c.615G>T	ENSP00000456693.1:n.615G>T
ENST00000567963.5:c.906+317G>T	ENSP00000455387.1:n.906+317G>T
ENST00000568076.5:n.912G>T
ENST00000568224.4:c.767G>T	ENSP00000454253.1:p.Arg256Leu
ENST00000568422.5:c.*238G>T	ENSP00000455549.1:n.*238G>T
ENST00000568452.5:n.1129G>T
ENST00000568558.5:c.542G>T	ENSP00000455603.1:p.Arg181Leu
ENST00000569030.5:c.671G>T	ENSP00000454680.1:p.Arg224Leu
ENST00000569430.5:c.1001G>T	ENSP00000454229.1:p.Arg334Leu
ENST00000628023.2:c.*297G>T	ENSP00000486178.1:n.*297G>T
ENST00000631023.2:c.906+317G>T	ENSP00000486616.1:n.906+317G>T
NM_000086.2:c.1001G>T , LRG_689t1:c.1001G>T	NP_000077.1:p.Arg334Leu
NM_001042432.1:c.1001G>T , LRG_689t2:c.1001G>T	NP_001035897.1:p.Arg334Leu
NM_001286104.1:c.929G>T	NP_001273033.1:p.Arg310Leu
NM_001286105.1:c.701G>T	NP_001273034.1:p.Arg234Leu
NM_001286109.1:c.767G>T	NP_001273038.1:p.Arg256Leu
NM_001286110.1:c.839G>T	NP_001273039.1:p.Arg280Leu
NM_001042432.2:c.1001G>T MANE Select	NP_001035897.1:p.Arg334Leu
NM_001286104.2:c.929G>T	NP_001273033.1:p.Arg310Leu
NM_001286105.2:c.701G>T	NP_001273034.1:p.Arg234Leu
NM_001286109.2:c.767G>T	NP_001273038.1:p.Arg256Leu
NM_001286110.2:c.839G>T	NP_001273039.1:p.Arg280Leu