Canonical Allele Identifier: CA395344176

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493491A>C (hg19) ; chr16:g.28482170A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482170A>C , CM000678.2:g.28482170A>C	GRCh38
NC_000016.9:g.28493491A>C , CM000678.1:g.28493491A>C	GRCh37
NC_000016.8:g.28400992A>C	NCBI36
NG_008654.2:g.15133T>G , LRG_689:g.15133T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.919T>G	ENSP00000329171.9:p.Phe307Val
ENST00000355477.10:c.847T>G	ENSP00000347660.7:p.Phe283Val
ENST00000357857.14:c.829T>G	ENSP00000350523.9:p.Phe277Val
ENST00000359984.12:c.991T>G	ENSP00000353073.9:p.Phe331Val
ENST00000360019.8:c.919T>G	ENSP00000353116.3:p.Phe307Val
ENST00000395653.9:c.532T>G	ENSP00000379014.5:p.Phe178Val
ENST00000561689.6:n.1404T>G
ENST00000564091.6:c.331T>G	ENSP00000454466.2:p.Phe111Val
ENST00000565316.6:c.940T>G	ENSP00000456117.1:p.Phe314Val
ENST00000566824.6:n.1051T>G
ENST00000567963.6:c.829T>G	ENSP00000455387.2:p.Phe277Val
ENST00000568076.6:n.1420T>G
ENST00000568422.6:c.*228T>G	ENSP00000455549.2:n.*228T>G
ENST00000568452.6:n.1222T>G
ENST00000568497.6:c.22T>G	ENSP00000456414.2:p.Phe8Val
ENST00000569430.7:c.991T>G	ENSP00000454229.1:p.Phe331Val
ENST00000628023.3:c.*287T>G	ENSP00000486178.1:n.*287T>G
ENST00000635861.1:c.*643T>G	ENSP00000490034.1:n.*643T>G
ENST00000635887.1:c.991T>G	ENSP00000490709.1:p.Phe331Val
ENST00000635958.1:n.1276T>G
ENST00000635973.1:c.742T>G	ENSP00000490363.1:p.Phe248Val
ENST00000636017.1:c.*515T>G	ENSP00000490538.1:n.*515T>G
ENST00000636078.1:n.1113T>G
ENST00000636147.2:c.991T>G MANE Select	ENSP00000490105.1:p.Phe331Val
ENST00000636172.1:c.*515T>G	ENSP00000490505.1:n.*515T>G
ENST00000636228.1:c.685T>G	ENSP00000489627.1:p.Phe229Val
ENST00000636351.1:n.885T>G
ENST00000636503.1:c.991T>G	ENSP00000489824.1:p.Phe331Val
ENST00000636685.1:n.672T>G
ENST00000636766.1:c.991T>G	ENSP00000489841.1:p.Phe331Val
ENST00000636839.1:n.1365T>G
ENST00000636853.1:n.1906T>G
ENST00000636866.1:c.991T>G	ENSP00000490880.1:p.Phe331Val
ENST00000636907.1:n.1142T>G
ENST00000636977.1:n.2361T>G
ENST00000637050.1:n.1380T>G
ENST00000637100.1:c.940T>G	ENSP00000490394.1:p.Phe314Val
ENST00000637107.1:c.*515T>G	ENSP00000490248.1:n.*515T>G
ENST00000637184.1:c.991T>G	ENSP00000489952.1:p.Phe331Val
ENST00000637299.1:c.*800T>G	ENSP00000489823.1:n.*800T>G
ENST00000637376.1:c.991T>G	ENSP00000490758.1:p.Phe331Val
ENST00000637378.1:c.163T>G	ENSP00000490831.1:p.Phe55Val
ENST00000637578.1:c.*515T>G	ENSP00000490206.1:n.*515T>G
ENST00000637699.1:c.902T>G	ENSP00000490049.1:n.902T>G
ENST00000637745.1:c.330T>G
ENST00000637871.1:c.*689T>G	ENSP00000490670.1:n.*689T>G
ENST00000638036.1:c.153T>G
ENST00000333496.13:c.919T>G	ENSP00000329171.9:p.Phe307Val
ENST00000355477.9:c.*228T>G	ENSP00000347660.6:n.*228T>G
ENST00000357806.11:c.694T>G	ENSP00000350457.7:p.Phe232Val
ENST00000357857.13:c.829T>G	ENSP00000350523.9:p.Phe277Val
ENST00000359984.11:c.685T>G	ENSP00000353073.8:p.Phe229Val
ENST00000360019.6:c.991T>G	ENSP00000353116.2:p.Phe331Val
ENST00000395653.8:c.691T>G	ENSP00000379014.4:p.Phe231Val
ENST00000561689.5:n.960T>G
ENST00000563874.5:n.2519T>G
ENST00000564091.5:c.80T>G
ENST00000565140.5:c.774T>G	ENSP00000455342.1:n.774T>G
ENST00000565316.5:c.940T>G	ENSP00000456117.1:p.Phe314Val
ENST00000565354.5:n.304T>G
ENST00000566057.5:c.605T>G	ENSP00000456693.1:n.605T>G
ENST00000567963.5:c.906+307T>G	ENSP00000455387.1:n.906+307T>G
ENST00000568076.5:n.902T>G
ENST00000568224.4:c.757T>G	ENSP00000454253.1:p.Phe253Val
ENST00000568422.5:c.*228T>G	ENSP00000455549.1:n.*228T>G
ENST00000568452.5:n.1119T>G
ENST00000568472.5:n.471T>G
ENST00000568558.5:c.532T>G	ENSP00000455603.1:p.Phe178Val
ENST00000569030.5:c.661T>G	ENSP00000454680.1:p.Phe221Val
ENST00000569430.5:c.991T>G	ENSP00000454229.1:p.Phe331Val
ENST00000628023.2:c.*287T>G	ENSP00000486178.1:n.*287T>G
ENST00000631023.2:c.906+307T>G	ENSP00000486616.1:n.906+307T>G
NM_000086.2:c.991T>G , LRG_689t1:c.991T>G	NP_000077.1:p.Phe331Val
NM_001042432.1:c.991T>G , LRG_689t2:c.991T>G	NP_001035897.1:p.Phe331Val
NM_001286104.1:c.919T>G	NP_001273033.1:p.Phe307Val
NM_001286105.1:c.691T>G	NP_001273034.1:p.Phe231Val
NM_001286109.1:c.757T>G	NP_001273038.1:p.Phe253Val
NM_001286110.1:c.829T>G	NP_001273039.1:p.Phe277Val
NM_001042432.2:c.991T>G MANE Select	NP_001035897.1:p.Phe331Val
NM_001286104.2:c.919T>G	NP_001273033.1:p.Phe307Val
NM_001286105.2:c.691T>G	NP_001273034.1:p.Phe231Val
NM_001286109.2:c.757T>G	NP_001273038.1:p.Phe253Val
NM_001286110.2:c.829T>G	NP_001273039.1:p.Phe277Val