Canonical Allele Identifier: CA7980833

Gene: CLN3

Linked Data

• ClinVar Variation Id: 1461311
• ClinVar RCV Id: RCV001965791
• dbSNP Id: rs776122422
• ExAC: 16:28495360 G / C
• gnomAD v2: 16-28495360-G-C
• MyVariant Identifiers: chr16:g.28495360G>C (hg19) ; chr16:g.28484039G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484039G>C , CM000678.2:g.28484039G>C	GRCh38
NC_000016.9:g.28495360G>C , CM000678.1:g.28495360G>C	GRCh37
NC_000016.8:g.28402861G>C	NCBI36
NG_008654.2:g.13264C>G , LRG_689:g.13264C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.685C>G	ENSP00000329171.9:p.Leu229Val
ENST00000355477.10:c.613C>G	ENSP00000347660.7:p.Leu205Val
ENST00000357857.14:c.595C>G	ENSP00000350523.9:p.Leu199Val
ENST00000359984.12:c.757C>G	ENSP00000353073.9:p.Leu253Val
ENST00000360019.8:c.685C>G	ENSP00000353116.3:p.Leu229Val
ENST00000395653.9:c.298C>G	ENSP00000379014.5:p.Leu100Val
ENST00000561689.6:n.1042C>G
ENST00000564091.6:c.97C>G	ENSP00000454466.2:p.Leu33Val
ENST00000565316.6:c.757C>G	ENSP00000456117.1:p.Leu253Val
ENST00000565778.6:c.388C>G	ENSP00000458015.1:p.Leu130Val
ENST00000566083.6:n.1215C>G
ENST00000566824.6:n.737C>G
ENST00000567963.6:c.595C>G	ENSP00000455387.2:p.Leu199Val
ENST00000568076.6:n.884C>G
ENST00000568422.6:c.540C>G	ENSP00000455549.2:p.Pro180=
ENST00000568452.6:n.860C>G
ENST00000568472.6:n.633C>G
ENST00000568497.6:c.-213C>G	ENSP00000456414.2:n.-213C>G
ENST00000568558.6:c.460C>G	ENSP00000455603.2:p.Leu154Val
ENST00000569430.7:c.757C>G	ENSP00000454229.1:p.Leu253Val
ENST00000628023.3:c.*53C>G	ENSP00000486178.1:n.*53C>G
ENST00000635861.1:c.*281C>G	ENSP00000490034.1:n.*281C>G
ENST00000635887.1:c.757C>G	ENSP00000490709.1:p.Leu253Val
ENST00000635958.1:n.868C>G
ENST00000635973.1:c.508C>G	ENSP00000490363.1:p.Leu170Val
ENST00000636017.1:c.*281C>G	ENSP00000490538.1:n.*281C>G
ENST00000636078.1:n.799C>G
ENST00000636147.2:c.757C>G MANE Select	ENSP00000490105.1:p.Leu253Val
ENST00000636172.1:c.*281C>G	ENSP00000490505.1:n.*281C>G
ENST00000636228.1:c.451C>G	ENSP00000489627.1:p.Leu151Val
ENST00000636351.1:n.477C>G
ENST00000636503.1:c.757C>G	ENSP00000489824.1:p.Leu253Val
ENST00000636685.1:n.264C>G
ENST00000636766.1:c.757C>G	ENSP00000489841.1:p.Leu253Val
ENST00000636839.1:n.909C>G
ENST00000636853.1:n.1672C>G
ENST00000636866.1:c.757C>G	ENSP00000490880.1:p.Leu253Val
ENST00000636907.1:n.908C>G
ENST00000636977.1:n.1825C>G
ENST00000637050.1:n.844C>G
ENST00000637100.1:c.757C>G	ENSP00000490394.1:p.Leu253Val
ENST00000637107.1:c.*281C>G	ENSP00000490248.1:n.*281C>G
ENST00000637184.1:c.757C>G	ENSP00000489952.1:p.Leu253Val
ENST00000637299.1:c.*566C>G	ENSP00000489823.1:n.*566C>G
ENST00000637376.1:c.757C>G	ENSP00000490758.1:p.Leu253Val
ENST00000637578.1:c.*281C>G	ENSP00000490206.1:n.*281C>G
ENST00000637699.1:c.540C>G	ENSP00000490049.1:p.Pro180=
ENST00000637745.1:c.96C>G
ENST00000637871.1:c.*281C>G	ENSP00000490670.1:n.*281C>G
ENST00000333496.13:c.685C>G	ENSP00000329171.9:p.Leu229Val
ENST00000355477.9:c.540C>G	ENSP00000347660.6:p.Pro180=
ENST00000357806.11:c.460C>G	ENSP00000350457.7:p.Leu154Val
ENST00000357857.13:c.595C>G	ENSP00000350523.9:p.Leu199Val
ENST00000359984.11:c.451C>G	ENSP00000353073.8:p.Leu151Val
ENST00000360019.6:c.757C>G	ENSP00000353116.2:p.Leu253Val
ENST00000395653.8:c.457C>G	ENSP00000379014.4:p.Leu153Val
ENST00000561689.5:n.598C>G
ENST00000563874.5:n.2111C>G
ENST00000564574.5:n.805C>G
ENST00000565047.1:n.351C>G
ENST00000565140.5:c.540C>G	ENSP00000455342.1:p.Pro180=
ENST00000565316.5:c.757C>G	ENSP00000456117.1:p.Leu253Val
ENST00000565688.5:c.508C>G	ENSP00000456122.1:p.Leu170Val
ENST00000565778.5:c.388C>G	ENSP00000458015.1:p.Leu130Val
ENST00000566057.5:c.371C>G	ENSP00000456693.1:n.371C>G
ENST00000566083.5:n.988C>G
ENST00000566824.5:n.806C>G
ENST00000567495.5:c.540C>G	ENSP00000456013.1:p.Pro180=
ENST00000567963.5:c.757C>G	ENSP00000455387.1:p.Leu253Val
ENST00000568076.5:n.540C>G
ENST00000568224.4:c.523C>G	ENSP00000454253.1:p.Leu175Val
ENST00000568422.5:c.393C>G	ENSP00000455549.1:p.Pro131=
ENST00000568452.5:n.757C>G
ENST00000568472.5:n.237C>G
ENST00000568497.5:c.*53C>G	ENSP00000456414.1:n.*53C>G
ENST00000568558.5:c.298C>G	ENSP00000455603.1:p.Leu100Val
ENST00000569030.5:c.461-1367C>G	ENSP00000454680.1:n.461-1367C>G
ENST00000569430.5:c.757C>G	ENSP00000454229.1:p.Leu253Val
ENST00000628023.2:c.*53C>G	ENSP00000486178.1:n.*53C>G
ENST00000631023.2:c.757C>G	ENSP00000486616.1:p.Leu253Val
NM_000086.2:c.757C>G , LRG_689t1:c.757C>G	NP_000077.1:p.Leu253Val
NM_001042432.1:c.757C>G , LRG_689t2:c.757C>G	NP_001035897.1:p.Leu253Val
NM_001286104.1:c.685C>G	NP_001273033.1:p.Leu229Val
NM_001286105.1:c.457C>G	NP_001273034.1:p.Leu153Val
NM_001286109.1:c.523C>G	NP_001273038.1:p.Leu175Val
NM_001286110.1:c.595C>G	NP_001273039.1:p.Leu199Val
NM_001042432.2:c.757C>G MANE Select	NP_001035897.1:p.Leu253Val
NM_001286104.2:c.685C>G	NP_001273033.1:p.Leu229Val
NM_001286105.2:c.457C>G	NP_001273034.1:p.Leu153Val
NM_001286109.2:c.523C>G	NP_001273038.1:p.Leu175Val
NM_001286110.2:c.595C>G	NP_001273039.1:p.Leu199Val