Canonical Allele Identifier: CA395344170

Gene: CLN3

Linked Data

• dbSNP Id: rs1256124213
• MyVariant Identifiers: chr16:g.28493488C>T (hg19) ; chr16:g.28482167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482167C>T , CM000678.2:g.28482167C>T	GRCh38
NC_000016.9:g.28493488C>T , CM000678.1:g.28493488C>T	GRCh37
NC_000016.8:g.28400989C>T	NCBI36
NG_008654.2:g.15136G>A , LRG_689:g.15136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.922G>A	ENSP00000329171.9:p.Ala308Thr
ENST00000355477.10:c.850G>A	ENSP00000347660.7:p.Ala284Thr
ENST00000357857.14:c.832G>A	ENSP00000350523.9:p.Ala278Thr
ENST00000359984.12:c.994G>A	ENSP00000353073.9:p.Ala332Thr
ENST00000360019.8:c.922G>A	ENSP00000353116.3:p.Ala308Thr
ENST00000395653.9:c.535G>A	ENSP00000379014.5:p.Ala179Thr
ENST00000561689.6:n.1407G>A
ENST00000564091.6:c.334G>A	ENSP00000454466.2:p.Ala112Thr
ENST00000565316.6:c.943G>A	ENSP00000456117.1:p.Ala315Thr
ENST00000566824.6:n.1054G>A
ENST00000567963.6:c.832G>A	ENSP00000455387.2:p.Ala278Thr
ENST00000568076.6:n.1423G>A
ENST00000568422.6:c.*231G>A	ENSP00000455549.2:n.*231G>A
ENST00000568452.6:n.1225G>A
ENST00000568497.6:c.25G>A	ENSP00000456414.2:p.Ala9Thr
ENST00000569430.7:c.994G>A	ENSP00000454229.1:p.Ala332Thr
ENST00000628023.3:c.*290G>A	ENSP00000486178.1:n.*290G>A
ENST00000635861.1:c.*646G>A	ENSP00000490034.1:n.*646G>A
ENST00000635887.1:c.994G>A	ENSP00000490709.1:p.Ala332Thr
ENST00000635958.1:n.1279G>A
ENST00000635973.1:c.745G>A	ENSP00000490363.1:p.Ala249Thr
ENST00000636017.1:c.*518G>A	ENSP00000490538.1:n.*518G>A
ENST00000636078.1:n.1116G>A
ENST00000636147.2:c.994G>A MANE Select	ENSP00000490105.1:p.Ala332Thr
ENST00000636172.1:c.*518G>A	ENSP00000490505.1:n.*518G>A
ENST00000636228.1:c.688G>A	ENSP00000489627.1:p.Ala230Thr
ENST00000636351.1:n.888G>A
ENST00000636503.1:c.994G>A	ENSP00000489824.1:p.Ala332Thr
ENST00000636685.1:n.675G>A
ENST00000636766.1:c.994G>A	ENSP00000489841.1:p.Ala332Thr
ENST00000636839.1:n.1368G>A
ENST00000636853.1:n.1909G>A
ENST00000636866.1:c.994G>A	ENSP00000490880.1:p.Ala332Thr
ENST00000636907.1:n.1145G>A
ENST00000636977.1:n.2364G>A
ENST00000637050.1:n.1383G>A
ENST00000637100.1:c.943G>A	ENSP00000490394.1:p.Ala315Thr
ENST00000637107.1:c.*518G>A	ENSP00000490248.1:n.*518G>A
ENST00000637184.1:c.994G>A	ENSP00000489952.1:p.Ala332Thr
ENST00000637299.1:c.*803G>A	ENSP00000489823.1:n.*803G>A
ENST00000637376.1:c.994G>A	ENSP00000490758.1:p.Ala332Thr
ENST00000637378.1:c.166G>A	ENSP00000490831.1:p.Ala56Thr
ENST00000637578.1:c.*518G>A	ENSP00000490206.1:n.*518G>A
ENST00000637699.1:c.905G>A	ENSP00000490049.1:n.905G>A
ENST00000637745.1:c.333G>A
ENST00000637871.1:c.*692G>A	ENSP00000490670.1:n.*692G>A
ENST00000638036.1:c.156G>A
ENST00000333496.13:c.922G>A	ENSP00000329171.9:p.Ala308Thr
ENST00000355477.9:c.*231G>A	ENSP00000347660.6:n.*231G>A
ENST00000357806.11:c.697G>A	ENSP00000350457.7:p.Ala233Thr
ENST00000357857.13:c.832G>A	ENSP00000350523.9:p.Ala278Thr
ENST00000359984.11:c.688G>A	ENSP00000353073.8:p.Ala230Thr
ENST00000360019.6:c.994G>A	ENSP00000353116.2:p.Ala332Thr
ENST00000395653.8:c.694G>A	ENSP00000379014.4:p.Ala232Thr
ENST00000561689.5:n.963G>A
ENST00000563874.5:n.2522G>A
ENST00000564091.5:c.83G>A
ENST00000565140.5:c.777G>A	ENSP00000455342.1:n.777G>A
ENST00000565316.5:c.943G>A	ENSP00000456117.1:p.Ala315Thr
ENST00000565354.5:n.307G>A
ENST00000566057.5:c.608G>A	ENSP00000456693.1:n.608G>A
ENST00000567963.5:c.906+310G>A	ENSP00000455387.1:n.906+310G>A
ENST00000568076.5:n.905G>A
ENST00000568224.4:c.760G>A	ENSP00000454253.1:p.Ala254Thr
ENST00000568422.5:c.*231G>A	ENSP00000455549.1:n.*231G>A
ENST00000568452.5:n.1122G>A
ENST00000568472.5:n.474G>A
ENST00000568558.5:c.535G>A	ENSP00000455603.1:p.Ala179Thr
ENST00000569030.5:c.664G>A	ENSP00000454680.1:p.Ala222Thr
ENST00000569430.5:c.994G>A	ENSP00000454229.1:p.Ala332Thr
ENST00000628023.2:c.*290G>A	ENSP00000486178.1:n.*290G>A
ENST00000631023.2:c.906+310G>A	ENSP00000486616.1:n.906+310G>A
NM_000086.2:c.994G>A , LRG_689t1:c.994G>A	NP_000077.1:p.Ala332Thr
NM_001042432.1:c.994G>A , LRG_689t2:c.994G>A	NP_001035897.1:p.Ala332Thr
NM_001286104.1:c.922G>A	NP_001273033.1:p.Ala308Thr
NM_001286105.1:c.694G>A	NP_001273034.1:p.Ala232Thr
NM_001286109.1:c.760G>A	NP_001273038.1:p.Ala254Thr
NM_001286110.1:c.832G>A	NP_001273039.1:p.Ala278Thr
NM_001042432.2:c.994G>A MANE Select	NP_001035897.1:p.Ala332Thr
NM_001286104.2:c.922G>A	NP_001273033.1:p.Ala308Thr
NM_001286105.2:c.694G>A	NP_001273034.1:p.Ala232Thr
NM_001286109.2:c.760G>A	NP_001273038.1:p.Ala254Thr
NM_001286110.2:c.832G>A	NP_001273039.1:p.Ala278Thr