Canonical Allele Identifier: CA395344970

Gene: CLN3

Linked Data

• dbSNP Id: rs1384612641
• gnomAD v2: 16-28495437-T-C
• gnomAD v4: 16-28484116-T-C
• MyVariant Identifiers: chr16:g.28495437T>C (hg19) ; chr16:g.28484116T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484116T>C , CM000678.2:g.28484116T>C	GRCh38
NC_000016.9:g.28495437T>C , CM000678.1:g.28495437T>C	GRCh37
NC_000016.8:g.28402938T>C	NCBI36
NG_008654.2:g.13187A>G , LRG_689:g.13187A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.608A>G	ENSP00000329171.9:p.Tyr203Cys
ENST00000355477.10:c.536A>G	ENSP00000347660.7:p.Tyr179Cys
ENST00000357857.14:c.518A>G	ENSP00000350523.9:p.Tyr173Cys
ENST00000359984.12:c.680A>G	ENSP00000353073.9:p.Tyr227Cys
ENST00000360019.8:c.608A>G	ENSP00000353116.3:p.Tyr203Cys
ENST00000395653.9:c.221A>G	ENSP00000379014.5:p.Tyr74Cys
ENST00000561689.6:n.965A>G
ENST00000564091.6:c.20A>G	ENSP00000454466.2:p.Tyr7Cys
ENST00000565316.6:c.680A>G	ENSP00000456117.1:p.Tyr227Cys
ENST00000565778.6:c.311A>G	ENSP00000458015.1:p.Tyr104Cys
ENST00000566083.6:n.1138A>G
ENST00000566824.6:n.660A>G
ENST00000567495.6:c.*139A>G	ENSP00000456013.2:n.*139A>G
ENST00000567963.6:c.518A>G	ENSP00000455387.2:p.Tyr173Cys
ENST00000568076.6:n.807A>G
ENST00000568422.6:c.463A>G	ENSP00000455549.2:p.Ile155Val
ENST00000568452.6:n.783A>G
ENST00000568472.6:n.556A>G
ENST00000568497.6:c.-290A>G	ENSP00000456414.2:n.-290A>G
ENST00000568558.6:c.383A>G	ENSP00000455603.2:p.Tyr128Cys
ENST00000569430.7:c.680A>G	ENSP00000454229.1:p.Tyr227Cys
ENST00000628023.3:c.225A>G	ENSP00000486178.1:p.Leu75=
ENST00000635861.1:c.*204A>G	ENSP00000490034.1:n.*204A>G
ENST00000635887.1:c.680A>G	ENSP00000490709.1:p.Tyr227Cys
ENST00000635958.1:n.791A>G
ENST00000635973.1:c.431A>G	ENSP00000490363.1:p.Tyr144Cys
ENST00000636017.1:c.*204A>G	ENSP00000490538.1:n.*204A>G
ENST00000636078.1:n.722A>G
ENST00000636147.2:c.680A>G MANE Select	ENSP00000490105.1:p.Tyr227Cys
ENST00000636172.1:c.*204A>G	ENSP00000490505.1:n.*204A>G
ENST00000636228.1:c.374A>G	ENSP00000489627.1:p.Tyr125Cys
ENST00000636351.1:n.400A>G
ENST00000636503.1:c.680A>G	ENSP00000489824.1:p.Tyr227Cys
ENST00000636685.1:n.187A>G
ENST00000636766.1:c.680A>G	ENSP00000489841.1:p.Tyr227Cys
ENST00000636839.1:n.832A>G
ENST00000636853.1:n.1595A>G
ENST00000636866.1:c.680A>G	ENSP00000490880.1:p.Tyr227Cys
ENST00000636907.1:n.831A>G
ENST00000636977.1:n.1748A>G
ENST00000637050.1:n.767A>G
ENST00000637100.1:c.680A>G	ENSP00000490394.1:p.Tyr227Cys
ENST00000637107.1:c.*204A>G	ENSP00000490248.1:n.*204A>G
ENST00000637184.1:c.680A>G	ENSP00000489952.1:p.Tyr227Cys
ENST00000637299.1:c.*489A>G	ENSP00000489823.1:n.*489A>G
ENST00000637376.1:c.680A>G	ENSP00000490758.1:p.Tyr227Cys
ENST00000637578.1:c.*204A>G	ENSP00000490206.1:n.*204A>G
ENST00000637699.1:c.463A>G	ENSP00000490049.1:p.Ile155Val
ENST00000637745.1:c.19A>G
ENST00000637871.1:c.*204A>G	ENSP00000490670.1:n.*204A>G
ENST00000333496.13:c.608A>G	ENSP00000329171.9:p.Tyr203Cys
ENST00000355477.9:c.463A>G	ENSP00000347660.6:p.Ile155Val
ENST00000357806.11:c.383A>G	ENSP00000350457.7:p.Tyr128Cys
ENST00000357857.13:c.518A>G	ENSP00000350523.9:p.Tyr173Cys
ENST00000359984.11:c.374A>G	ENSP00000353073.8:p.Tyr125Cys
ENST00000360019.6:c.680A>G	ENSP00000353116.2:p.Tyr227Cys
ENST00000395653.8:c.380A>G	ENSP00000379014.4:p.Tyr127Cys
ENST00000561689.5:n.521A>G
ENST00000563874.5:n.2034A>G
ENST00000564574.5:n.728A>G
ENST00000565047.1:n.274A>G
ENST00000565140.5:c.463A>G	ENSP00000455342.1:p.Ile155Val
ENST00000565316.5:c.680A>G	ENSP00000456117.1:p.Tyr227Cys
ENST00000565688.5:c.431A>G	ENSP00000456122.1:p.Tyr144Cys
ENST00000565778.5:c.311A>G	ENSP00000458015.1:p.Tyr104Cys
ENST00000566057.5:c.294A>G	ENSP00000456693.1:p.Leu98=
ENST00000566083.5:n.911A>G
ENST00000566824.5:n.729A>G
ENST00000567495.5:c.463A>G	ENSP00000456013.1:p.Ile155Val
ENST00000567963.5:c.680A>G	ENSP00000455387.1:p.Tyr227Cys
ENST00000568076.5:n.463A>G
ENST00000568224.4:c.446A>G	ENSP00000454253.1:p.Tyr149Cys
ENST00000568422.5:c.316A>G	ENSP00000455549.1:p.Ile106Val
ENST00000568452.5:n.680A>G
ENST00000568472.5:n.160A>G
ENST00000568497.5:c.225A>G	ENSP00000456414.1:p.Leu75=
ENST00000568558.5:c.221A>G	ENSP00000455603.1:p.Tyr74Cys
ENST00000569030.5:c.461-1444A>G	ENSP00000454680.1:n.461-1444A>G
ENST00000569430.5:c.680A>G	ENSP00000454229.1:p.Tyr227Cys
ENST00000628023.2:c.225A>G	ENSP00000486178.1:p.Leu75=
ENST00000631023.2:c.680A>G	ENSP00000486616.1:p.Tyr227Cys
NM_000086.2:c.680A>G , LRG_689t1:c.680A>G	NP_000077.1:p.Tyr227Cys
NM_001042432.1:c.680A>G , LRG_689t2:c.680A>G	NP_001035897.1:p.Tyr227Cys
NM_001286104.1:c.608A>G	NP_001273033.1:p.Tyr203Cys
NM_001286105.1:c.380A>G	NP_001273034.1:p.Tyr127Cys
NM_001286109.1:c.446A>G	NP_001273038.1:p.Tyr149Cys
NM_001286110.1:c.518A>G	NP_001273039.1:p.Tyr173Cys
NM_001042432.2:c.680A>G MANE Select	NP_001035897.1:p.Tyr227Cys
NM_001286104.2:c.608A>G	NP_001273033.1:p.Tyr203Cys
NM_001286105.2:c.380A>G	NP_001273034.1:p.Tyr127Cys
NM_001286109.2:c.446A>G	NP_001273038.1:p.Tyr149Cys
NM_001286110.2:c.518A>G	NP_001273039.1:p.Tyr173Cys