Canonical Allele Identifier: CA395345175

Gene: CLN3

Linked Data

• ClinVar Variation Id: 444366
• ClinVar RCV Id: RCV000513241 ; RCV001199670 ; RCV001857319
• dbSNP Id: rs1555468695
• gnomAD v4: 16-28486348-T-C
• MyVariant Identifiers: chr16:g.28497669T>C (hg19) ; chr16:g.28486348T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28486348T>C , CM000678.2:g.28486348T>C	GRCh38
NC_000016.9:g.28497669T>C , CM000678.1:g.28497669T>C	GRCh37
NC_000016.8:g.28405170T>C	NCBI36
NG_008654.2:g.10955A>G , LRG_689:g.10955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.604A>G	ENSP00000329171.9:p.Ser202Gly
ENST00000355477.10:c.533+230A>G	ENSP00000347660.7:n.533+230A>G
ENST00000357857.14:c.514A>G	ENSP00000350523.9:p.Ser172Gly
ENST00000359984.12:c.676A>G	ENSP00000353073.9:p.Ser226Gly
ENST00000360019.8:c.604A>G	ENSP00000353116.3:p.Ser202Gly
ENST00000395653.9:c.218+1108A>G	ENSP00000379014.5:n.218+1108A>G
ENST00000561689.6:n.961A>G
ENST00000564091.6:c.16A>G	ENSP00000454466.2:p.Ser6Gly
ENST00000565316.6:c.676A>G	ENSP00000456117.1:p.Ser226Gly
ENST00000565778.6:c.308+1108A>G	ENSP00000458015.1:n.308+1108A>G
ENST00000566083.6:n.1134A>G
ENST00000566824.6:n.656A>G
ENST00000567495.6:c.*135A>G	ENSP00000456013.2:n.*135A>G
ENST00000567963.6:c.514A>G	ENSP00000455387.2:p.Ser172Gly
ENST00000568076.6:n.803A>G
ENST00000568422.6:c.460+1108A>G	ENSP00000455549.2:n.460+1108A>G
ENST00000568452.6:n.779A>G
ENST00000568472.6:n.553+1108A>G
ENST00000568497.6:c.-292-2230A>G	ENSP00000456414.2:n.-292-2230A>G
ENST00000568558.6:c.380+1108A>G	ENSP00000455603.2:n.380+1108A>G
ENST00000569430.7:c.676A>G	ENSP00000454229.1:p.Ser226Gly
ENST00000628023.3:c.223-2230A>G	ENSP00000486178.1:n.223-2230A>G
ENST00000635861.1:c.*200A>G	ENSP00000490034.1:n.*200A>G
ENST00000635887.1:c.676A>G	ENSP00000490709.1:p.Ser226Gly
ENST00000635958.1:n.787A>G
ENST00000635973.1:c.427A>G	ENSP00000490363.1:p.Ser143Gly
ENST00000636017.1:c.*200A>G	ENSP00000490538.1:n.*200A>G
ENST00000636078.1:n.718A>G
ENST00000636147.2:c.676A>G MANE Select	ENSP00000490105.1:p.Ser226Gly
ENST00000636172.1:c.*200A>G	ENSP00000490505.1:n.*200A>G
ENST00000636228.1:c.371+230A>G	ENSP00000489627.1:n.371+230A>G
ENST00000636351.1:n.396A>G
ENST00000636503.1:c.676A>G	ENSP00000489824.1:p.Ser226Gly
ENST00000636766.1:c.676A>G	ENSP00000489841.1:p.Ser226Gly
ENST00000636839.1:n.828A>G
ENST00000636853.1:n.1591A>G
ENST00000636866.1:c.676A>G	ENSP00000490880.1:p.Ser226Gly
ENST00000636977.1:n.1744A>G
ENST00000637100.1:c.676A>G	ENSP00000490394.1:p.Ser226Gly
ENST00000637107.1:c.*200A>G	ENSP00000490248.1:n.*200A>G
ENST00000637184.1:c.676A>G	ENSP00000489952.1:p.Ser226Gly
ENST00000637299.1:c.*485A>G	ENSP00000489823.1:n.*485A>G
ENST00000637376.1:c.676A>G	ENSP00000490758.1:p.Ser226Gly
ENST00000637578.1:c.*200A>G	ENSP00000490206.1:n.*200A>G
ENST00000637699.1:c.460+1108A>G	ENSP00000490049.1:n.460+1108A>G
ENST00000637745.1:c.15A>G
ENST00000637871.1:c.*200A>G	ENSP00000490670.1:n.*200A>G
ENST00000333496.13:c.604A>G	ENSP00000329171.9:p.Ser202Gly
ENST00000355477.9:c.460+1108A>G	ENSP00000347660.6:n.460+1108A>G
ENST00000357806.11:c.380+1108A>G	ENSP00000350457.7:n.380+1108A>G
ENST00000357857.13:c.514A>G	ENSP00000350523.9:p.Ser172Gly
ENST00000359984.11:c.371+230A>G	ENSP00000353073.8:n.371+230A>G
ENST00000360019.6:c.676A>G	ENSP00000353116.2:p.Ser226Gly
ENST00000395653.8:c.376A>G	ENSP00000379014.4:p.Ser126Gly
ENST00000561689.5:n.517A>G
ENST00000563874.5:n.2030A>G
ENST00000564574.5:n.724A>G
ENST00000565047.1:n.271+1108A>G
ENST00000565140.5:c.460+1108A>G	ENSP00000455342.1:n.460+1108A>G
ENST00000565316.5:c.676A>G	ENSP00000456117.1:p.Ser226Gly
ENST00000565688.5:c.427A>G	ENSP00000456122.1:p.Ser143Gly
ENST00000565778.5:c.308+1108A>G	ENSP00000458015.1:n.308+1108A>G
ENST00000566057.5:c.291+1108A>G	ENSP00000456693.1:n.291+1108A>G
ENST00000566083.5:n.907A>G
ENST00000566824.5:n.725A>G
ENST00000567495.5:c.460+1108A>G	ENSP00000456013.1:n.460+1108A>G
ENST00000567963.5:c.676A>G	ENSP00000455387.1:p.Ser226Gly
ENST00000568076.5:n.460+1108A>G
ENST00000568224.4:c.442A>G	ENSP00000454253.1:p.Ser148Gly
ENST00000568422.5:c.313+230A>G	ENSP00000455549.1:n.313+230A>G
ENST00000568452.5:n.676A>G
ENST00000568472.5:n.158-2230A>G
ENST00000568497.5:c.223-2230A>G	ENSP00000456414.1:n.223-2230A>G
ENST00000568558.5:c.218+1108A>G	ENSP00000455603.1:n.218+1108A>G
ENST00000569030.5:c.460+1108A>G	ENSP00000454680.1:n.460+1108A>G
ENST00000569430.5:c.676A>G	ENSP00000454229.1:p.Ser226Gly
ENST00000628023.2:c.223-2230A>G	ENSP00000486178.1:n.223-2230A>G
ENST00000631023.2:c.676A>G	ENSP00000486616.1:p.Ser226Gly
NM_000086.2:c.676A>G , LRG_689t1:c.676A>G	NP_000077.1:p.Ser226Gly
NM_001042432.1:c.676A>G , LRG_689t2:c.676A>G	NP_001035897.1:p.Ser226Gly
NM_001286104.1:c.604A>G	NP_001273033.1:p.Ser202Gly
NM_001286105.1:c.376A>G	NP_001273034.1:p.Ser126Gly
NM_001286109.1:c.442A>G	NP_001273038.1:p.Ser148Gly
NM_001286110.1:c.514A>G	NP_001273039.1:p.Ser172Gly
NM_001042432.2:c.676A>G MANE Select	NP_001035897.1:p.Ser226Gly
NM_001286104.2:c.604A>G	NP_001273033.1:p.Ser202Gly
NM_001286105.2:c.376A>G	NP_001273034.1:p.Ser126Gly
NM_001286109.2:c.442A>G	NP_001273038.1:p.Ser148Gly
NM_001286110.2:c.514A>G	NP_001273039.1:p.Ser172Gly