Canonical Allele Identifier: CA395344083

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493465G>T (hg19) ; chr16:g.28482144G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482144G>T , CM000678.2:g.28482144G>T	GRCh38
NC_000016.9:g.28493465G>T , CM000678.1:g.28493465G>T	GRCh37
NC_000016.8:g.28400966G>T	NCBI36
NG_008654.2:g.15159C>A , LRG_689:g.15159C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.945C>A	ENSP00000329171.9:p.Cys315Ter
ENST00000355477.10:c.873C>A	ENSP00000347660.7:p.Cys291Ter
ENST00000357857.14:c.855C>A	ENSP00000350523.9:p.Cys285Ter
ENST00000359984.12:c.1017C>A	ENSP00000353073.9:p.Cys339Ter
ENST00000360019.8:c.945C>A	ENSP00000353116.3:p.Cys315Ter
ENST00000395653.9:c.558C>A	ENSP00000379014.5:p.Cys186Ter
ENST00000561689.6:n.1430C>A
ENST00000564091.6:c.357C>A	ENSP00000454466.2:p.Cys119Ter
ENST00000565316.6:c.966C>A	ENSP00000456117.1:p.Cys322Ter
ENST00000566824.6:n.1077C>A
ENST00000567963.6:c.855C>A	ENSP00000455387.2:p.Cys285Ter
ENST00000568076.6:n.1446C>A
ENST00000568422.6:c.*254C>A	ENSP00000455549.2:n.*254C>A
ENST00000568452.6:n.1248C>A
ENST00000568497.6:c.48C>A	ENSP00000456414.2:p.Cys16Ter
ENST00000569430.7:c.1017C>A	ENSP00000454229.1:p.Cys339Ter
ENST00000628023.3:c.*313C>A	ENSP00000486178.1:n.*313C>A
ENST00000635861.1:c.*669C>A	ENSP00000490034.1:n.*669C>A
ENST00000635887.1:c.1017C>A	ENSP00000490709.1:p.Cys339Ter
ENST00000635958.1:n.1302C>A
ENST00000635973.1:c.768C>A	ENSP00000490363.1:p.Cys256Ter
ENST00000636017.1:c.*541C>A	ENSP00000490538.1:n.*541C>A
ENST00000636078.1:n.1139C>A
ENST00000636147.2:c.1017C>A MANE Select	ENSP00000490105.1:p.Cys339Ter
ENST00000636172.1:c.*541C>A	ENSP00000490505.1:n.*541C>A
ENST00000636228.1:c.711C>A	ENSP00000489627.1:p.Cys237Ter
ENST00000636351.1:n.911C>A
ENST00000636503.1:c.1017C>A	ENSP00000489824.1:p.Cys339Ter
ENST00000636685.1:n.698C>A
ENST00000636766.1:c.1017C>A	ENSP00000489841.1:p.Cys339Ter
ENST00000636839.1:n.1391C>A
ENST00000636853.1:n.1932C>A
ENST00000636866.1:c.1017C>A	ENSP00000490880.1:p.Cys339Ter
ENST00000636907.1:n.1168C>A
ENST00000636977.1:n.2387C>A
ENST00000637050.1:n.1406C>A
ENST00000637100.1:c.966C>A	ENSP00000490394.1:p.Cys322Ter
ENST00000637107.1:c.*541C>A	ENSP00000490248.1:n.*541C>A
ENST00000637184.1:c.1017C>A	ENSP00000489952.1:p.Cys339Ter
ENST00000637299.1:c.*826C>A	ENSP00000489823.1:n.*826C>A
ENST00000637376.1:c.1017C>A	ENSP00000490758.1:p.Cys339Ter
ENST00000637378.1:c.189C>A	ENSP00000490831.1:p.Cys63Ter
ENST00000637578.1:c.*541C>A	ENSP00000490206.1:n.*541C>A
ENST00000637699.1:c.928C>A	ENSP00000490049.1:n.928C>A
ENST00000637745.1:c.356C>A
ENST00000637871.1:c.*715C>A	ENSP00000490670.1:n.*715C>A
ENST00000638036.1:c.179C>A
ENST00000333496.13:c.945C>A	ENSP00000329171.9:p.Cys315Ter
ENST00000355477.9:c.*254C>A	ENSP00000347660.6:n.*254C>A
ENST00000357806.11:c.720C>A	ENSP00000350457.7:p.Cys240Ter
ENST00000357857.13:c.855C>A	ENSP00000350523.9:p.Cys285Ter
ENST00000359984.11:c.711C>A	ENSP00000353073.8:p.Cys237Ter
ENST00000360019.6:c.1017C>A	ENSP00000353116.2:p.Cys339Ter
ENST00000395653.8:c.717C>A	ENSP00000379014.4:p.Cys239Ter
ENST00000561689.5:n.986C>A
ENST00000563874.5:n.2545C>A
ENST00000564091.5:c.106C>A
ENST00000565140.5:c.800C>A	ENSP00000455342.1:n.800C>A
ENST00000565316.5:c.966C>A	ENSP00000456117.1:p.Cys322Ter
ENST00000565354.5:n.330C>A
ENST00000566057.5:c.631C>A	ENSP00000456693.1:n.631C>A
ENST00000567963.5:c.906+333C>A	ENSP00000455387.1:n.906+333C>A
ENST00000568076.5:n.928C>A
ENST00000568224.4:c.783C>A	ENSP00000454253.1:p.Cys261Ter
ENST00000568422.5:c.*254C>A	ENSP00000455549.1:n.*254C>A
ENST00000568452.5:n.1145C>A
ENST00000569030.5:c.687C>A	ENSP00000454680.1:p.Cys229Ter
ENST00000569430.5:c.1017C>A	ENSP00000454229.1:p.Cys339Ter
ENST00000628023.2:c.*313C>A	ENSP00000486178.1:n.*313C>A
ENST00000631023.2:c.906+333C>A	ENSP00000486616.1:n.906+333C>A
NM_000086.2:c.1017C>A , LRG_689t1:c.1017C>A	NP_000077.1:p.Cys339Ter
NM_001042432.1:c.1017C>A , LRG_689t2:c.1017C>A	NP_001035897.1:p.Cys339Ter
NM_001286104.1:c.945C>A	NP_001273033.1:p.Cys315Ter
NM_001286105.1:c.717C>A	NP_001273034.1:p.Cys239Ter
NM_001286109.1:c.783C>A	NP_001273038.1:p.Cys261Ter
NM_001286110.1:c.855C>A	NP_001273039.1:p.Cys285Ter
NM_001042432.2:c.1017C>A MANE Select	NP_001035897.1:p.Cys339Ter
NM_001286104.2:c.945C>A	NP_001273033.1:p.Cys315Ter
NM_001286105.2:c.717C>A	NP_001273034.1:p.Cys239Ter
NM_001286109.2:c.783C>A	NP_001273038.1:p.Cys261Ter
NM_001286110.2:c.855C>A	NP_001273039.1:p.Cys285Ter