Canonical Allele Identifier: CA395344769

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28495364C>G (hg19) ; chr16:g.28484043C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484043C>G , CM000678.2:g.28484043C>G	GRCh38
NC_000016.9:g.28495364C>G , CM000678.1:g.28495364C>G	GRCh37
NC_000016.8:g.28402865C>G	NCBI36
NG_008654.2:g.13260G>C , LRG_689:g.13260G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.681G>C	ENSP00000329171.9:p.Gln227His
ENST00000355477.10:c.609G>C	ENSP00000347660.7:p.Gln203His
ENST00000357857.14:c.591G>C	ENSP00000350523.9:p.Gln197His
ENST00000359984.12:c.753G>C	ENSP00000353073.9:p.Gln251His
ENST00000360019.8:c.681G>C	ENSP00000353116.3:p.Gln227His
ENST00000395653.9:c.294G>C	ENSP00000379014.5:p.Gln98His
ENST00000561689.6:n.1038G>C
ENST00000564091.6:c.93G>C	ENSP00000454466.2:p.Gln31His
ENST00000565316.6:c.753G>C	ENSP00000456117.1:p.Gln251His
ENST00000565778.6:c.384G>C	ENSP00000458015.1:p.Gln128His
ENST00000566083.6:n.1211G>C
ENST00000566824.6:n.733G>C
ENST00000567963.6:c.591G>C	ENSP00000455387.2:p.Gln197His
ENST00000568076.6:n.880G>C
ENST00000568422.6:c.536G>C	ENSP00000455549.2:p.Ser179Thr
ENST00000568452.6:n.856G>C
ENST00000568472.6:n.629G>C
ENST00000568497.6:c.-217G>C	ENSP00000456414.2:n.-217G>C
ENST00000568558.6:c.456G>C	ENSP00000455603.2:p.Gln152His
ENST00000569430.7:c.753G>C	ENSP00000454229.1:p.Gln251His
ENST00000628023.3:c.*49G>C	ENSP00000486178.1:n.*49G>C
ENST00000635861.1:c.*277G>C	ENSP00000490034.1:n.*277G>C
ENST00000635887.1:c.753G>C	ENSP00000490709.1:p.Gln251His
ENST00000635958.1:n.864G>C
ENST00000635973.1:c.504G>C	ENSP00000490363.1:p.Gln168His
ENST00000636017.1:c.*277G>C	ENSP00000490538.1:n.*277G>C
ENST00000636078.1:n.795G>C
ENST00000636147.2:c.753G>C MANE Select	ENSP00000490105.1:p.Gln251His
ENST00000636172.1:c.*277G>C	ENSP00000490505.1:n.*277G>C
ENST00000636228.1:c.447G>C	ENSP00000489627.1:p.Gln149His
ENST00000636351.1:n.473G>C
ENST00000636503.1:c.753G>C	ENSP00000489824.1:p.Gln251His
ENST00000636685.1:n.260G>C
ENST00000636766.1:c.753G>C	ENSP00000489841.1:p.Gln251His
ENST00000636839.1:n.905G>C
ENST00000636853.1:n.1668G>C
ENST00000636866.1:c.753G>C	ENSP00000490880.1:p.Gln251His
ENST00000636907.1:n.904G>C
ENST00000636977.1:n.1821G>C
ENST00000637050.1:n.840G>C
ENST00000637100.1:c.753G>C	ENSP00000490394.1:p.Gln251His
ENST00000637107.1:c.*277G>C	ENSP00000490248.1:n.*277G>C
ENST00000637184.1:c.753G>C	ENSP00000489952.1:p.Gln251His
ENST00000637299.1:c.*562G>C	ENSP00000489823.1:n.*562G>C
ENST00000637376.1:c.753G>C	ENSP00000490758.1:p.Gln251His
ENST00000637578.1:c.*277G>C	ENSP00000490206.1:n.*277G>C
ENST00000637699.1:c.536G>C	ENSP00000490049.1:p.Ser179Thr
ENST00000637745.1:c.92G>C
ENST00000637871.1:c.*277G>C	ENSP00000490670.1:n.*277G>C
ENST00000333496.13:c.681G>C	ENSP00000329171.9:p.Gln227His
ENST00000355477.9:c.536G>C	ENSP00000347660.6:p.Ser179Thr
ENST00000357806.11:c.456G>C	ENSP00000350457.7:p.Gln152His
ENST00000357857.13:c.591G>C	ENSP00000350523.9:p.Gln197His
ENST00000359984.11:c.447G>C	ENSP00000353073.8:p.Gln149His
ENST00000360019.6:c.753G>C	ENSP00000353116.2:p.Gln251His
ENST00000395653.8:c.453G>C	ENSP00000379014.4:p.Gln151His
ENST00000561689.5:n.594G>C
ENST00000563874.5:n.2107G>C
ENST00000564574.5:n.801G>C
ENST00000565047.1:n.347G>C
ENST00000565140.5:c.536G>C	ENSP00000455342.1:p.Ser179Thr
ENST00000565316.5:c.753G>C	ENSP00000456117.1:p.Gln251His
ENST00000565688.5:c.504G>C	ENSP00000456122.1:p.Gln168His
ENST00000565778.5:c.384G>C	ENSP00000458015.1:p.Gln128His
ENST00000566057.5:c.367G>C	ENSP00000456693.1:n.367G>C
ENST00000566083.5:n.984G>C
ENST00000566824.5:n.802G>C
ENST00000567495.5:c.536G>C	ENSP00000456013.1:p.Ser179Thr
ENST00000567963.5:c.753G>C	ENSP00000455387.1:p.Gln251His
ENST00000568076.5:n.536G>C
ENST00000568224.4:c.519G>C	ENSP00000454253.1:p.Gln173His
ENST00000568422.5:c.389G>C	ENSP00000455549.1:p.Ser130Thr
ENST00000568452.5:n.753G>C
ENST00000568472.5:n.233G>C
ENST00000568497.5:c.*49G>C	ENSP00000456414.1:n.*49G>C
ENST00000568558.5:c.294G>C	ENSP00000455603.1:p.Gln98His
ENST00000569030.5:c.461-1371G>C	ENSP00000454680.1:n.461-1371G>C
ENST00000569430.5:c.753G>C	ENSP00000454229.1:p.Gln251His
ENST00000628023.2:c.*49G>C	ENSP00000486178.1:n.*49G>C
ENST00000631023.2:c.753G>C	ENSP00000486616.1:p.Gln251His
NM_000086.2:c.753G>C , LRG_689t1:c.753G>C	NP_000077.1:p.Gln251His
NM_001042432.1:c.753G>C , LRG_689t2:c.753G>C	NP_001035897.1:p.Gln251His
NM_001286104.1:c.681G>C	NP_001273033.1:p.Gln227His
NM_001286105.1:c.453G>C	NP_001273034.1:p.Gln151His
NM_001286109.1:c.519G>C	NP_001273038.1:p.Gln173His
NM_001286110.1:c.591G>C	NP_001273039.1:p.Gln197His
NM_001042432.2:c.753G>C MANE Select	NP_001035897.1:p.Gln251His
NM_001286104.2:c.681G>C	NP_001273033.1:p.Gln227His
NM_001286105.2:c.453G>C	NP_001273034.1:p.Gln151His
NM_001286109.2:c.519G>C	NP_001273038.1:p.Gln173His
NM_001286110.2:c.591G>C	NP_001273039.1:p.Gln197His