Canonical Allele Identifier: CA395344892

Gene: CLN3

Linked Data

• ClinVar Variation Id: 1431853
• ClinVar RCV Id: RCV001981877
• dbSNP Id: rs2141707084
• MyVariant Identifiers: chr16:g.28495408G>A (hg19) ; chr16:g.28484087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484087G>A , CM000678.2:g.28484087G>A	GRCh38
NC_000016.9:g.28495408G>A , CM000678.1:g.28495408G>A	GRCh37
NC_000016.8:g.28402909G>A	NCBI36
NG_008654.2:g.13216C>T , LRG_689:g.13216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.637C>T	ENSP00000329171.9:p.Gln213Ter
ENST00000355477.10:c.565C>T	ENSP00000347660.7:p.Gln189Ter
ENST00000357857.14:c.547C>T	ENSP00000350523.9:p.Gln183Ter
ENST00000359984.12:c.709C>T	ENSP00000353073.9:p.Gln237Ter
ENST00000360019.8:c.637C>T	ENSP00000353116.3:p.Gln213Ter
ENST00000395653.9:c.250C>T	ENSP00000379014.5:p.Gln84Ter
ENST00000561689.6:n.994C>T
ENST00000564091.6:c.49C>T	ENSP00000454466.2:p.Gln17Ter
ENST00000565316.6:c.709C>T	ENSP00000456117.1:p.Gln237Ter
ENST00000565778.6:c.340C>T	ENSP00000458015.1:p.Gln114Ter
ENST00000566083.6:n.1167C>T
ENST00000566824.6:n.689C>T
ENST00000567495.6:c.*168C>T	ENSP00000456013.2:n.*168C>T
ENST00000567963.6:c.547C>T	ENSP00000455387.2:p.Gln183Ter
ENST00000568076.6:n.836C>T
ENST00000568422.6:c.492C>T	ENSP00000455549.2:p.Pro164=
ENST00000568452.6:n.812C>T
ENST00000568472.6:n.585C>T
ENST00000568497.6:c.-261C>T	ENSP00000456414.2:n.-261C>T
ENST00000568558.6:c.412C>T	ENSP00000455603.2:p.Gln138Ter
ENST00000569430.7:c.709C>T	ENSP00000454229.1:p.Gln237Ter
ENST00000628023.3:c.*5C>T	ENSP00000486178.1:n.*5C>T
ENST00000635861.1:c.*233C>T	ENSP00000490034.1:n.*233C>T
ENST00000635887.1:c.709C>T	ENSP00000490709.1:p.Gln237Ter
ENST00000635958.1:n.820C>T
ENST00000635973.1:c.460C>T	ENSP00000490363.1:p.Gln154Ter
ENST00000636017.1:c.*233C>T	ENSP00000490538.1:n.*233C>T
ENST00000636078.1:n.751C>T
ENST00000636147.2:c.709C>T MANE Select	ENSP00000490105.1:p.Gln237Ter
ENST00000636172.1:c.*233C>T	ENSP00000490505.1:n.*233C>T
ENST00000636228.1:c.403C>T	ENSP00000489627.1:p.Gln135Ter
ENST00000636351.1:n.429C>T
ENST00000636503.1:c.709C>T	ENSP00000489824.1:p.Gln237Ter
ENST00000636685.1:n.216C>T
ENST00000636766.1:c.709C>T	ENSP00000489841.1:p.Gln237Ter
ENST00000636839.1:n.861C>T
ENST00000636853.1:n.1624C>T
ENST00000636866.1:c.709C>T	ENSP00000490880.1:p.Gln237Ter
ENST00000636907.1:n.860C>T
ENST00000636977.1:n.1777C>T
ENST00000637050.1:n.796C>T
ENST00000637100.1:c.709C>T	ENSP00000490394.1:p.Gln237Ter
ENST00000637107.1:c.*233C>T	ENSP00000490248.1:n.*233C>T
ENST00000637184.1:c.709C>T	ENSP00000489952.1:p.Gln237Ter
ENST00000637299.1:c.*518C>T	ENSP00000489823.1:n.*518C>T
ENST00000637376.1:c.709C>T	ENSP00000490758.1:p.Gln237Ter
ENST00000637578.1:c.*233C>T	ENSP00000490206.1:n.*233C>T
ENST00000637699.1:c.492C>T	ENSP00000490049.1:p.Pro164=
ENST00000637745.1:c.48C>T
ENST00000637871.1:c.*233C>T	ENSP00000490670.1:n.*233C>T
ENST00000333496.13:c.637C>T	ENSP00000329171.9:p.Gln213Ter
ENST00000355477.9:c.492C>T	ENSP00000347660.6:p.Pro164=
ENST00000357806.11:c.412C>T	ENSP00000350457.7:p.Gln138Ter
ENST00000357857.13:c.547C>T	ENSP00000350523.9:p.Gln183Ter
ENST00000359984.11:c.403C>T	ENSP00000353073.8:p.Gln135Ter
ENST00000360019.6:c.709C>T	ENSP00000353116.2:p.Gln237Ter
ENST00000395653.8:c.409C>T	ENSP00000379014.4:p.Gln137Ter
ENST00000561689.5:n.550C>T
ENST00000563874.5:n.2063C>T
ENST00000564574.5:n.757C>T
ENST00000565047.1:n.303C>T
ENST00000565140.5:c.492C>T	ENSP00000455342.1:p.Pro164=
ENST00000565316.5:c.709C>T	ENSP00000456117.1:p.Gln237Ter
ENST00000565688.5:c.460C>T	ENSP00000456122.1:p.Gln154Ter
ENST00000565778.5:c.340C>T	ENSP00000458015.1:p.Gln114Ter
ENST00000566057.5:c.323C>T	ENSP00000456693.1:n.323C>T
ENST00000566083.5:n.940C>T
ENST00000566824.5:n.758C>T
ENST00000567495.5:c.492C>T	ENSP00000456013.1:p.Pro164=
ENST00000567963.5:c.709C>T	ENSP00000455387.1:p.Gln237Ter
ENST00000568076.5:n.492C>T
ENST00000568224.4:c.475C>T	ENSP00000454253.1:p.Gln159Ter
ENST00000568422.5:c.345C>T	ENSP00000455549.1:p.Pro115=
ENST00000568452.5:n.709C>T
ENST00000568472.5:n.189C>T
ENST00000568497.5:c.*5C>T	ENSP00000456414.1:n.*5C>T
ENST00000568558.5:c.250C>T	ENSP00000455603.1:p.Gln84Ter
ENST00000569030.5:c.461-1415C>T	ENSP00000454680.1:n.461-1415C>T
ENST00000569430.5:c.709C>T	ENSP00000454229.1:p.Gln237Ter
ENST00000628023.2:c.*5C>T	ENSP00000486178.1:n.*5C>T
ENST00000631023.2:c.709C>T	ENSP00000486616.1:p.Gln237Ter
NM_000086.2:c.709C>T , LRG_689t1:c.709C>T	NP_000077.1:p.Gln237Ter
NM_001042432.1:c.709C>T , LRG_689t2:c.709C>T	NP_001035897.1:p.Gln237Ter
NM_001286104.1:c.637C>T	NP_001273033.1:p.Gln213Ter
NM_001286105.1:c.409C>T	NP_001273034.1:p.Gln137Ter
NM_001286109.1:c.475C>T	NP_001273038.1:p.Gln159Ter
NM_001286110.1:c.547C>T	NP_001273039.1:p.Gln183Ter
NM_001042432.2:c.709C>T MANE Select	NP_001035897.1:p.Gln237Ter
NM_001286104.2:c.637C>T	NP_001273033.1:p.Gln213Ter
NM_001286105.2:c.409C>T	NP_001273034.1:p.Gln137Ter
NM_001286109.2:c.475C>T	NP_001273038.1:p.Gln159Ter
NM_001286110.2:c.547C>T	NP_001273039.1:p.Gln183Ter