Canonical Allele Identifier: CA395344065

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493462A>T (hg19) ; chr16:g.28482141A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482141A>T , CM000678.2:g.28482141A>T	GRCh38
NC_000016.9:g.28493462A>T , CM000678.1:g.28493462A>T	GRCh37
NC_000016.8:g.28400963A>T	NCBI36
NG_008654.2:g.15162T>A , LRG_689:g.15162T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.948T>A	ENSP00000329171.9:p.Cys316Ter
ENST00000355477.10:c.876T>A	ENSP00000347660.7:p.Cys292Ter
ENST00000357857.14:c.858T>A	ENSP00000350523.9:p.Cys286Ter
ENST00000359984.12:c.1020T>A	ENSP00000353073.9:p.Cys340Ter
ENST00000360019.8:c.948T>A	ENSP00000353116.3:p.Cys316Ter
ENST00000395653.9:c.561T>A	ENSP00000379014.5:p.Cys187Ter
ENST00000561689.6:n.1433T>A
ENST00000564091.6:c.360T>A	ENSP00000454466.2:p.Cys120Ter
ENST00000565316.6:c.969T>A	ENSP00000456117.1:p.Cys323Ter
ENST00000566824.6:n.1080T>A
ENST00000567963.6:c.858T>A	ENSP00000455387.2:p.Cys286Ter
ENST00000568076.6:n.1449T>A
ENST00000568422.6:c.*257T>A	ENSP00000455549.2:n.*257T>A
ENST00000568452.6:n.1251T>A
ENST00000568497.6:c.51T>A	ENSP00000456414.2:p.Cys17Ter
ENST00000569430.7:c.1020T>A	ENSP00000454229.1:p.Cys340Ter
ENST00000628023.3:c.*316T>A	ENSP00000486178.1:n.*316T>A
ENST00000635861.1:c.*672T>A	ENSP00000490034.1:n.*672T>A
ENST00000635887.1:c.1020T>A	ENSP00000490709.1:p.Cys340Ter
ENST00000635958.1:n.1305T>A
ENST00000635973.1:c.771T>A	ENSP00000490363.1:p.Cys257Ter
ENST00000636017.1:c.*544T>A	ENSP00000490538.1:n.*544T>A
ENST00000636078.1:n.1142T>A
ENST00000636147.2:c.1020T>A MANE Select	ENSP00000490105.1:p.Cys340Ter
ENST00000636172.1:c.*544T>A	ENSP00000490505.1:n.*544T>A
ENST00000636228.1:c.714T>A	ENSP00000489627.1:p.Cys238Ter
ENST00000636351.1:n.914T>A
ENST00000636503.1:c.1020T>A	ENSP00000489824.1:p.Cys340Ter
ENST00000636685.1:n.701T>A
ENST00000636766.1:c.1020T>A	ENSP00000489841.1:p.Cys340Ter
ENST00000636839.1:n.1394T>A
ENST00000636853.1:n.1935T>A
ENST00000636866.1:c.1020T>A	ENSP00000490880.1:p.Cys340Ter
ENST00000636907.1:n.1171T>A
ENST00000636977.1:n.2390T>A
ENST00000637050.1:n.1409T>A
ENST00000637100.1:c.969T>A	ENSP00000490394.1:p.Cys323Ter
ENST00000637107.1:c.*544T>A	ENSP00000490248.1:n.*544T>A
ENST00000637184.1:c.1020T>A	ENSP00000489952.1:p.Cys340Ter
ENST00000637299.1:c.*829T>A	ENSP00000489823.1:n.*829T>A
ENST00000637376.1:c.1020T>A	ENSP00000490758.1:p.Cys340Ter
ENST00000637378.1:c.192T>A	ENSP00000490831.1:p.Cys64Ter
ENST00000637578.1:c.*544T>A	ENSP00000490206.1:n.*544T>A
ENST00000637699.1:c.931T>A	ENSP00000490049.1:n.931T>A
ENST00000637745.1:c.359T>A
ENST00000637871.1:c.*718T>A	ENSP00000490670.1:n.*718T>A
ENST00000638036.1:c.182T>A
ENST00000333496.13:c.948T>A	ENSP00000329171.9:p.Cys316Ter
ENST00000355477.9:c.*257T>A	ENSP00000347660.6:n.*257T>A
ENST00000357806.11:c.723T>A	ENSP00000350457.7:p.Cys241Ter
ENST00000357857.13:c.858T>A	ENSP00000350523.9:p.Cys286Ter
ENST00000359984.11:c.714T>A	ENSP00000353073.8:p.Cys238Ter
ENST00000360019.6:c.1020T>A	ENSP00000353116.2:p.Cys340Ter
ENST00000395653.8:c.720T>A	ENSP00000379014.4:p.Cys240Ter
ENST00000561689.5:n.989T>A
ENST00000563874.5:n.2548T>A
ENST00000564091.5:c.109T>A
ENST00000565140.5:c.803T>A	ENSP00000455342.1:n.803T>A
ENST00000565316.5:c.969T>A	ENSP00000456117.1:p.Cys323Ter
ENST00000565354.5:n.333T>A
ENST00000566057.5:c.634T>A	ENSP00000456693.1:n.634T>A
ENST00000567963.5:c.906+336T>A	ENSP00000455387.1:n.906+336T>A
ENST00000568076.5:n.931T>A
ENST00000568224.4:c.786T>A	ENSP00000454253.1:p.Cys262Ter
ENST00000568422.5:c.*257T>A	ENSP00000455549.1:n.*257T>A
ENST00000568452.5:n.1148T>A
ENST00000569030.5:c.690T>A	ENSP00000454680.1:p.Cys230Ter
ENST00000569430.5:c.1020T>A	ENSP00000454229.1:p.Cys340Ter
ENST00000628023.2:c.*316T>A	ENSP00000486178.1:n.*316T>A
ENST00000631023.2:c.906+336T>A	ENSP00000486616.1:n.906+336T>A
NM_000086.2:c.1020T>A , LRG_689t1:c.1020T>A	NP_000077.1:p.Cys340Ter
NM_001042432.1:c.1020T>A , LRG_689t2:c.1020T>A	NP_001035897.1:p.Cys340Ter
NM_001286104.1:c.948T>A	NP_001273033.1:p.Cys316Ter
NM_001286105.1:c.720T>A	NP_001273034.1:p.Cys240Ter
NM_001286109.1:c.786T>A	NP_001273038.1:p.Cys262Ter
NM_001286110.1:c.858T>A	NP_001273039.1:p.Cys286Ter
NM_001042432.2:c.1020T>A MANE Select	NP_001035897.1:p.Cys340Ter
NM_001286104.2:c.948T>A	NP_001273033.1:p.Cys316Ter
NM_001286105.2:c.720T>A	NP_001273034.1:p.Cys240Ter
NM_001286109.2:c.786T>A	NP_001273038.1:p.Cys262Ter
NM_001286110.2:c.858T>A	NP_001273039.1:p.Cys286Ter