Canonical Allele Identifier: CA395344181

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493493A>T (hg19) ; chr16:g.28482172A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482172A>T , CM000678.2:g.28482172A>T	GRCh38
NC_000016.9:g.28493493A>T , CM000678.1:g.28493493A>T	GRCh37
NC_000016.8:g.28400994A>T	NCBI36
NG_008654.2:g.15131T>A , LRG_689:g.15131T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.917T>A	ENSP00000329171.9:p.Val306Asp
ENST00000355477.10:c.845T>A	ENSP00000347660.7:p.Val282Asp
ENST00000357857.14:c.827T>A	ENSP00000350523.9:p.Val276Asp
ENST00000359984.12:c.989T>A	ENSP00000353073.9:p.Val330Asp
ENST00000360019.8:c.917T>A	ENSP00000353116.3:p.Val306Asp
ENST00000395653.9:c.530T>A	ENSP00000379014.5:p.Val177Asp
ENST00000561689.6:n.1402T>A
ENST00000564091.6:c.329T>A	ENSP00000454466.2:p.Val110Asp
ENST00000565316.6:c.938T>A	ENSP00000456117.1:p.Val313Asp
ENST00000566824.6:n.1049T>A
ENST00000567963.6:c.827T>A	ENSP00000455387.2:p.Val276Asp
ENST00000568076.6:n.1418T>A
ENST00000568422.6:c.*226T>A	ENSP00000455549.2:n.*226T>A
ENST00000568452.6:n.1220T>A
ENST00000568497.6:c.20T>A	ENSP00000456414.2:p.Val7Asp
ENST00000569430.7:c.989T>A	ENSP00000454229.1:p.Val330Asp
ENST00000628023.3:c.*285T>A	ENSP00000486178.1:n.*285T>A
ENST00000635861.1:c.*641T>A	ENSP00000490034.1:n.*641T>A
ENST00000635887.1:c.989T>A	ENSP00000490709.1:p.Val330Asp
ENST00000635958.1:n.1274T>A
ENST00000635973.1:c.740T>A	ENSP00000490363.1:p.Val247Asp
ENST00000636017.1:c.*513T>A	ENSP00000490538.1:n.*513T>A
ENST00000636078.1:n.1111T>A
ENST00000636147.2:c.989T>A MANE Select	ENSP00000490105.1:p.Val330Asp
ENST00000636172.1:c.*513T>A	ENSP00000490505.1:n.*513T>A
ENST00000636228.1:c.683T>A	ENSP00000489627.1:p.Val228Asp
ENST00000636351.1:n.883T>A
ENST00000636503.1:c.989T>A	ENSP00000489824.1:p.Val330Asp
ENST00000636685.1:n.670T>A
ENST00000636766.1:c.989T>A	ENSP00000489841.1:p.Val330Asp
ENST00000636839.1:n.1363T>A
ENST00000636853.1:n.1904T>A
ENST00000636866.1:c.989T>A	ENSP00000490880.1:p.Val330Asp
ENST00000636907.1:n.1140T>A
ENST00000636977.1:n.2359T>A
ENST00000637050.1:n.1378T>A
ENST00000637100.1:c.938T>A	ENSP00000490394.1:p.Val313Asp
ENST00000637107.1:c.*513T>A	ENSP00000490248.1:n.*513T>A
ENST00000637184.1:c.989T>A	ENSP00000489952.1:p.Val330Asp
ENST00000637299.1:c.*798T>A	ENSP00000489823.1:n.*798T>A
ENST00000637376.1:c.989T>A	ENSP00000490758.1:p.Val330Asp
ENST00000637378.1:c.161T>A	ENSP00000490831.1:p.Val54Asp
ENST00000637578.1:c.*513T>A	ENSP00000490206.1:n.*513T>A
ENST00000637699.1:c.900T>A	ENSP00000490049.1:n.900T>A
ENST00000637745.1:c.328T>A
ENST00000637871.1:c.*687T>A	ENSP00000490670.1:n.*687T>A
ENST00000638036.1:c.151T>A
ENST00000333496.13:c.917T>A	ENSP00000329171.9:p.Val306Asp
ENST00000355477.9:c.*226T>A	ENSP00000347660.6:n.*226T>A
ENST00000357806.11:c.692T>A	ENSP00000350457.7:p.Val231Asp
ENST00000357857.13:c.827T>A	ENSP00000350523.9:p.Val276Asp
ENST00000359984.11:c.683T>A	ENSP00000353073.8:p.Val228Asp
ENST00000360019.6:c.989T>A	ENSP00000353116.2:p.Val330Asp
ENST00000395653.8:c.689T>A	ENSP00000379014.4:p.Val230Asp
ENST00000561689.5:n.958T>A
ENST00000563874.5:n.2517T>A
ENST00000564091.5:c.78T>A
ENST00000565140.5:c.772T>A	ENSP00000455342.1:n.772T>A
ENST00000565316.5:c.938T>A	ENSP00000456117.1:p.Val313Asp
ENST00000565354.5:n.302T>A
ENST00000566057.5:c.603T>A	ENSP00000456693.1:n.603T>A
ENST00000567963.5:c.906+305T>A	ENSP00000455387.1:n.906+305T>A
ENST00000568076.5:n.900T>A
ENST00000568224.4:c.755T>A	ENSP00000454253.1:p.Val252Asp
ENST00000568422.5:c.*226T>A	ENSP00000455549.1:n.*226T>A
ENST00000568452.5:n.1117T>A
ENST00000568472.5:n.469T>A
ENST00000568558.5:c.530T>A	ENSP00000455603.1:p.Val177Asp
ENST00000569030.5:c.659T>A	ENSP00000454680.1:p.Val220Asp
ENST00000569430.5:c.989T>A	ENSP00000454229.1:p.Val330Asp
ENST00000628023.2:c.*285T>A	ENSP00000486178.1:n.*285T>A
ENST00000631023.2:c.906+305T>A	ENSP00000486616.1:n.906+305T>A
NM_000086.2:c.989T>A , LRG_689t1:c.989T>A	NP_000077.1:p.Val330Asp
NM_001042432.1:c.989T>A , LRG_689t2:c.989T>A	NP_001035897.1:p.Val330Asp
NM_001286104.1:c.917T>A	NP_001273033.1:p.Val306Asp
NM_001286105.1:c.689T>A	NP_001273034.1:p.Val230Asp
NM_001286109.1:c.755T>A	NP_001273038.1:p.Val252Asp
NM_001286110.1:c.827T>A	NP_001273039.1:p.Val276Asp
NM_001042432.2:c.989T>A MANE Select	NP_001035897.1:p.Val330Asp
NM_001286104.2:c.917T>A	NP_001273033.1:p.Val306Asp
NM_001286105.2:c.689T>A	NP_001273034.1:p.Val230Asp
NM_001286109.2:c.755T>A	NP_001273038.1:p.Val252Asp
NM_001286110.2:c.827T>A	NP_001273039.1:p.Val276Asp