Canonical Allele Identifier: CA395344445

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493824C>G (hg19) ; chr16:g.28482503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482503C>G , CM000678.2:g.28482503C>G	GRCh38
NC_000016.9:g.28493824C>G , CM000678.1:g.28493824C>G	GRCh37
NC_000016.8:g.28401325C>G	NCBI36
NG_008654.2:g.14800G>C , LRG_689:g.14800G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.808G>C	ENSP00000329171.9:p.Ala270Pro
ENST00000355477.10:c.736G>C	ENSP00000347660.7:p.Ala246Pro
ENST00000357857.14:c.718G>C	ENSP00000350523.9:p.Ala240Pro
ENST00000359984.12:c.880G>C	ENSP00000353073.9:p.Ala294Pro
ENST00000360019.8:c.808G>C	ENSP00000353116.3:p.Ala270Pro
ENST00000395653.9:c.421G>C	ENSP00000379014.5:p.Ala141Pro
ENST00000561689.6:n.1165G>C
ENST00000564091.6:c.220G>C	ENSP00000454466.2:p.Ala74Pro
ENST00000565316.6:c.855+105G>C	ENSP00000456117.1:n.855+105G>C
ENST00000566824.6:n.940G>C
ENST00000567963.6:c.718G>C	ENSP00000455387.2:p.Ala240Pro
ENST00000568076.6:n.1087G>C
ENST00000568422.6:c.*117G>C	ENSP00000455549.2:n.*117G>C
ENST00000568452.6:n.983G>C
ENST00000568472.6:n.836G>C
ENST00000568497.6:c.-90G>C	ENSP00000456414.2:n.-90G>C
ENST00000569430.7:c.880G>C	ENSP00000454229.1:p.Ala294Pro
ENST00000628023.3:c.*176G>C	ENSP00000486178.1:n.*176G>C
ENST00000635861.1:c.*404G>C	ENSP00000490034.1:n.*404G>C
ENST00000635887.1:c.880G>C	ENSP00000490709.1:p.Ala294Pro
ENST00000635958.1:n.1071G>C
ENST00000635973.1:c.631G>C	ENSP00000490363.1:p.Ala211Pro
ENST00000636017.1:c.*404G>C	ENSP00000490538.1:n.*404G>C
ENST00000636078.1:n.1002G>C
ENST00000636147.2:c.880G>C MANE Select	ENSP00000490105.1:p.Ala294Pro
ENST00000636172.1:c.*404G>C	ENSP00000490505.1:n.*404G>C
ENST00000636228.1:c.574G>C	ENSP00000489627.1:p.Ala192Pro
ENST00000636351.1:n.680G>C
ENST00000636503.1:c.880G>C	ENSP00000489824.1:p.Ala294Pro
ENST00000636685.1:n.467G>C
ENST00000636766.1:c.880G>C	ENSP00000489841.1:p.Ala294Pro
ENST00000636839.1:n.1032G>C
ENST00000636853.1:n.1795G>C
ENST00000636866.1:c.880G>C	ENSP00000490880.1:p.Ala294Pro
ENST00000636907.1:n.1031G>C
ENST00000636977.1:n.2028G>C
ENST00000637050.1:n.1047G>C
ENST00000637100.1:c.855+105G>C	ENSP00000490394.1:n.855+105G>C
ENST00000637107.1:c.*404G>C	ENSP00000490248.1:n.*404G>C
ENST00000637184.1:c.880G>C	ENSP00000489952.1:p.Ala294Pro
ENST00000637299.1:c.*689G>C	ENSP00000489823.1:n.*689G>C
ENST00000637376.1:c.880G>C	ENSP00000490758.1:p.Ala294Pro
ENST00000637378.1:c.52G>C	ENSP00000490831.1:p.Ala18Pro
ENST00000637578.1:c.*404G>C	ENSP00000490206.1:n.*404G>C
ENST00000637699.1:c.663G>C	ENSP00000490049.1:n.663G>C
ENST00000637745.1:c.219G>C
ENST00000637871.1:c.*484G>C	ENSP00000490670.1:n.*484G>C
ENST00000638036.1:c.42G>C
ENST00000333496.13:c.808G>C	ENSP00000329171.9:p.Ala270Pro
ENST00000355477.9:c.*117G>C	ENSP00000347660.6:n.*117G>C
ENST00000357806.11:c.583G>C	ENSP00000350457.7:p.Ala195Pro
ENST00000357857.13:c.718G>C	ENSP00000350523.9:p.Ala240Pro
ENST00000359984.11:c.574G>C	ENSP00000353073.8:p.Ala192Pro
ENST00000360019.6:c.880G>C	ENSP00000353116.2:p.Ala294Pro
ENST00000395653.8:c.580G>C	ENSP00000379014.4:p.Ala194Pro
ENST00000561689.5:n.721G>C
ENST00000563874.5:n.2314G>C
ENST00000564574.5:n.928G>C
ENST00000565140.5:c.663G>C	ENSP00000455342.1:n.663G>C
ENST00000565316.5:c.855+105G>C	ENSP00000456117.1:n.855+105G>C
ENST00000565354.5:n.99G>C
ENST00000566057.5:c.494G>C	ENSP00000456693.1:n.494G>C
ENST00000566824.5:n.1009G>C
ENST00000567495.5:c.*117G>C	ENSP00000456013.1:n.*117G>C
ENST00000567963.5:c.880G>C	ENSP00000455387.1:p.Ala294Pro
ENST00000568076.5:n.663G>C
ENST00000568224.4:c.646G>C	ENSP00000454253.1:p.Ala216Pro
ENST00000568422.5:c.*117G>C	ENSP00000455549.1:n.*117G>C
ENST00000568452.5:n.880G>C
ENST00000568472.5:n.360G>C
ENST00000568497.5:c.*176G>C	ENSP00000456414.1:n.*176G>C
ENST00000568558.5:c.421G>C	ENSP00000455603.1:p.Ala141Pro
ENST00000569030.5:c.550G>C	ENSP00000454680.1:p.Ala184Pro
ENST00000569430.5:c.880G>C	ENSP00000454229.1:p.Ala294Pro
ENST00000628023.2:c.*176G>C	ENSP00000486178.1:n.*176G>C
ENST00000631023.2:c.880G>C	ENSP00000486616.1:p.Ala294Pro
NM_000086.2:c.880G>C , LRG_689t1:c.880G>C	NP_000077.1:p.Ala294Pro
NM_001042432.1:c.880G>C , LRG_689t2:c.880G>C	NP_001035897.1:p.Ala294Pro
NM_001286104.1:c.808G>C	NP_001273033.1:p.Ala270Pro
NM_001286105.1:c.580G>C	NP_001273034.1:p.Ala194Pro
NM_001286109.1:c.646G>C	NP_001273038.1:p.Ala216Pro
NM_001286110.1:c.718G>C	NP_001273039.1:p.Ala240Pro
NM_001042432.2:c.880G>C MANE Select	NP_001035897.1:p.Ala294Pro
NM_001286104.2:c.808G>C	NP_001273033.1:p.Ala270Pro
NM_001286105.2:c.580G>C	NP_001273034.1:p.Ala194Pro
NM_001286109.2:c.646G>C	NP_001273038.1:p.Ala216Pro
NM_001286110.2:c.718G>C	NP_001273039.1:p.Ala240Pro