Canonical Allele Identifier: CA395343919

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493431G>C (hg19) ; chr16:g.28482110G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482110G>C , CM000678.2:g.28482110G>C	GRCh38
NC_000016.9:g.28493431G>C , CM000678.1:g.28493431G>C	GRCh37
NC_000016.8:g.28400932G>C	NCBI36
NG_008654.2:g.15193C>G , LRG_689:g.15193C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.979C>G	ENSP00000329171.9:p.Leu327Val
ENST00000355477.10:c.907C>G	ENSP00000347660.7:p.Leu303Val
ENST00000357857.14:c.889C>G	ENSP00000350523.9:p.Leu297Val
ENST00000359984.12:c.1051C>G	ENSP00000353073.9:p.Leu351Val
ENST00000360019.8:c.979C>G	ENSP00000353116.3:p.Leu327Val
ENST00000395653.9:c.592C>G	ENSP00000379014.5:p.Leu198Val
ENST00000561689.6:n.1464C>G
ENST00000564091.6:c.391C>G	ENSP00000454466.2:p.Leu131Val
ENST00000565316.6:c.1000C>G	ENSP00000456117.1:p.Leu334Val
ENST00000566824.6:n.1111C>G
ENST00000567963.6:c.889C>G	ENSP00000455387.2:p.Leu297Val
ENST00000568076.6:n.1480C>G
ENST00000568422.6:c.*288C>G	ENSP00000455549.2:n.*288C>G
ENST00000568452.6:n.1282C>G
ENST00000568497.6:c.82C>G	ENSP00000456414.2:p.Leu28Val
ENST00000569430.7:c.1051C>G	ENSP00000454229.1:p.Leu351Val
ENST00000628023.3:c.*347C>G	ENSP00000486178.1:n.*347C>G
ENST00000635861.1:c.*703C>G	ENSP00000490034.1:n.*703C>G
ENST00000635887.1:c.1051C>G	ENSP00000490709.1:p.Leu351Val
ENST00000635958.1:n.1336C>G
ENST00000635973.1:c.802C>G	ENSP00000490363.1:p.Leu268Val
ENST00000636017.1:c.*575C>G	ENSP00000490538.1:n.*575C>G
ENST00000636078.1:n.1173C>G
ENST00000636147.2:c.1051C>G MANE Select	ENSP00000490105.1:p.Leu351Val
ENST00000636172.1:c.*575C>G	ENSP00000490505.1:n.*575C>G
ENST00000636228.1:c.745C>G	ENSP00000489627.1:p.Leu249Val
ENST00000636351.1:n.945C>G
ENST00000636503.1:c.1051C>G	ENSP00000489824.1:p.Leu351Val
ENST00000636685.1:n.732C>G
ENST00000636766.1:c.1051C>G	ENSP00000489841.1:p.Leu351Val
ENST00000636839.1:n.1425C>G
ENST00000636853.1:n.1966C>G
ENST00000636866.1:c.1051C>G	ENSP00000490880.1:p.Leu351Val
ENST00000636907.1:n.1202C>G
ENST00000636977.1:n.2421C>G
ENST00000637050.1:n.1440C>G
ENST00000637100.1:c.1000C>G	ENSP00000490394.1:p.Leu334Val
ENST00000637107.1:c.*575C>G	ENSP00000490248.1:n.*575C>G
ENST00000637184.1:c.1051C>G	ENSP00000489952.1:p.Leu351Val
ENST00000637299.1:c.*860C>G	ENSP00000489823.1:n.*860C>G
ENST00000637376.1:c.1051C>G	ENSP00000490758.1:p.Leu351Val
ENST00000637378.1:c.223C>G	ENSP00000490831.1:p.Leu75Val
ENST00000637578.1:c.*575C>G	ENSP00000490206.1:n.*575C>G
ENST00000637699.1:c.962C>G	ENSP00000490049.1:n.962C>G
ENST00000637745.1:c.390C>G
ENST00000637871.1:c.*749C>G	ENSP00000490670.1:n.*749C>G
ENST00000638036.1:c.213C>G
ENST00000333496.13:c.979C>G	ENSP00000329171.9:p.Leu327Val
ENST00000355477.9:c.*288C>G	ENSP00000347660.6:n.*288C>G
ENST00000357806.11:c.754C>G	ENSP00000350457.7:p.Leu252Val
ENST00000357857.13:c.889C>G	ENSP00000350523.9:p.Leu297Val
ENST00000359984.11:c.745C>G	ENSP00000353073.8:p.Leu249Val
ENST00000360019.6:c.1051C>G	ENSP00000353116.2:p.Leu351Val
ENST00000395653.8:c.751C>G	ENSP00000379014.4:p.Leu251Val
ENST00000561689.5:n.1020C>G
ENST00000563874.5:n.2579C>G
ENST00000564091.5:c.140C>G
ENST00000565140.5:c.834C>G	ENSP00000455342.1:n.834C>G
ENST00000565316.5:c.1000C>G	ENSP00000456117.1:p.Leu334Val
ENST00000565354.5:n.364C>G
ENST00000566057.5:c.665C>G	ENSP00000456693.1:n.665C>G
ENST00000567963.5:c.906+367C>G	ENSP00000455387.1:n.906+367C>G
ENST00000568076.5:n.962C>G
ENST00000568224.4:c.817C>G	ENSP00000454253.1:p.Leu273Val
ENST00000568422.5:c.*288C>G	ENSP00000455549.1:n.*288C>G
ENST00000568452.5:n.1179C>G
ENST00000569030.5:c.721C>G	ENSP00000454680.1:p.Leu241Val
ENST00000569430.5:c.1051C>G	ENSP00000454229.1:p.Leu351Val
ENST00000628023.2:c.*347C>G	ENSP00000486178.1:n.*347C>G
ENST00000631023.2:c.906+367C>G	ENSP00000486616.1:n.906+367C>G
NM_000086.2:c.1051C>G , LRG_689t1:c.1051C>G	NP_000077.1:p.Leu351Val
NM_001042432.1:c.1051C>G , LRG_689t2:c.1051C>G	NP_001035897.1:p.Leu351Val
NM_001286104.1:c.979C>G	NP_001273033.1:p.Leu327Val
NM_001286105.1:c.751C>G	NP_001273034.1:p.Leu251Val
NM_001286109.1:c.817C>G	NP_001273038.1:p.Leu273Val
NM_001286110.1:c.889C>G	NP_001273039.1:p.Leu297Val
NM_001042432.2:c.1051C>G MANE Select	NP_001035897.1:p.Leu351Val
NM_001286104.2:c.979C>G	NP_001273033.1:p.Leu327Val
NM_001286105.2:c.751C>G	NP_001273034.1:p.Leu251Val
NM_001286109.2:c.817C>G	NP_001273038.1:p.Leu273Val
NM_001286110.2:c.889C>G	NP_001273039.1:p.Leu297Val