Canonical Allele Identifier: CA395344908

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28495414C>G (hg19) ; chr16:g.28484093C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484093C>G , CM000678.2:g.28484093C>G	GRCh38
NC_000016.9:g.28495414C>G , CM000678.1:g.28495414C>G	GRCh37
NC_000016.8:g.28402915C>G	NCBI36
NG_008654.2:g.13210G>C , LRG_689:g.13210G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.631G>C	ENSP00000329171.9:p.Glu211Gln
ENST00000355477.10:c.559G>C	ENSP00000347660.7:p.Glu187Gln
ENST00000357857.14:c.541G>C	ENSP00000350523.9:p.Glu181Gln
ENST00000359984.12:c.703G>C	ENSP00000353073.9:p.Glu235Gln
ENST00000360019.8:c.631G>C	ENSP00000353116.3:p.Glu211Gln
ENST00000395653.9:c.244G>C	ENSP00000379014.5:p.Glu82Gln
ENST00000561689.6:n.988G>C
ENST00000564091.6:c.43G>C	ENSP00000454466.2:p.Glu15Gln
ENST00000565316.6:c.703G>C	ENSP00000456117.1:p.Glu235Gln
ENST00000565778.6:c.334G>C	ENSP00000458015.1:p.Glu112Gln
ENST00000566083.6:n.1161G>C
ENST00000566824.6:n.683G>C
ENST00000567495.6:c.*162G>C	ENSP00000456013.2:n.*162G>C
ENST00000567963.6:c.541G>C	ENSP00000455387.2:p.Glu181Gln
ENST00000568076.6:n.830G>C
ENST00000568422.6:c.486G>C	ENSP00000455549.2:p.Leu162=
ENST00000568452.6:n.806G>C
ENST00000568472.6:n.579G>C
ENST00000568497.6:c.-267G>C	ENSP00000456414.2:n.-267G>C
ENST00000568558.6:c.406G>C	ENSP00000455603.2:p.Glu136Gln
ENST00000569430.7:c.703G>C	ENSP00000454229.1:p.Glu235Gln
ENST00000628023.3:c.248G>C	ENSP00000486178.1:p.Ter83Ser
ENST00000635861.1:c.*227G>C	ENSP00000490034.1:n.*227G>C
ENST00000635887.1:c.703G>C	ENSP00000490709.1:p.Glu235Gln
ENST00000635958.1:n.814G>C
ENST00000635973.1:c.454G>C	ENSP00000490363.1:p.Glu152Gln
ENST00000636017.1:c.*227G>C	ENSP00000490538.1:n.*227G>C
ENST00000636078.1:n.745G>C
ENST00000636147.2:c.703G>C MANE Select	ENSP00000490105.1:p.Glu235Gln
ENST00000636172.1:c.*227G>C	ENSP00000490505.1:n.*227G>C
ENST00000636228.1:c.397G>C	ENSP00000489627.1:p.Glu133Gln
ENST00000636351.1:n.423G>C
ENST00000636503.1:c.703G>C	ENSP00000489824.1:p.Glu235Gln
ENST00000636685.1:n.210G>C
ENST00000636766.1:c.703G>C	ENSP00000489841.1:p.Glu235Gln
ENST00000636839.1:n.855G>C
ENST00000636853.1:n.1618G>C
ENST00000636866.1:c.703G>C	ENSP00000490880.1:p.Glu235Gln
ENST00000636907.1:n.854G>C
ENST00000636977.1:n.1771G>C
ENST00000637050.1:n.790G>C
ENST00000637100.1:c.703G>C	ENSP00000490394.1:p.Glu235Gln
ENST00000637107.1:c.*227G>C	ENSP00000490248.1:n.*227G>C
ENST00000637184.1:c.703G>C	ENSP00000489952.1:p.Glu235Gln
ENST00000637299.1:c.*512G>C	ENSP00000489823.1:n.*512G>C
ENST00000637376.1:c.703G>C	ENSP00000490758.1:p.Glu235Gln
ENST00000637578.1:c.*227G>C	ENSP00000490206.1:n.*227G>C
ENST00000637699.1:c.486G>C	ENSP00000490049.1:p.Leu162=
ENST00000637745.1:c.42G>C
ENST00000637871.1:c.*227G>C	ENSP00000490670.1:n.*227G>C
ENST00000333496.13:c.631G>C	ENSP00000329171.9:p.Glu211Gln
ENST00000355477.9:c.486G>C	ENSP00000347660.6:p.Leu162=
ENST00000357806.11:c.406G>C	ENSP00000350457.7:p.Glu136Gln
ENST00000357857.13:c.541G>C	ENSP00000350523.9:p.Glu181Gln
ENST00000359984.11:c.397G>C	ENSP00000353073.8:p.Glu133Gln
ENST00000360019.6:c.703G>C	ENSP00000353116.2:p.Glu235Gln
ENST00000395653.8:c.403G>C	ENSP00000379014.4:p.Glu135Gln
ENST00000561689.5:n.544G>C
ENST00000563874.5:n.2057G>C
ENST00000564574.5:n.751G>C
ENST00000565047.1:n.297G>C
ENST00000565140.5:c.486G>C	ENSP00000455342.1:p.Leu162=
ENST00000565316.5:c.703G>C	ENSP00000456117.1:p.Glu235Gln
ENST00000565688.5:c.454G>C	ENSP00000456122.1:p.Glu152Gln
ENST00000565778.5:c.334G>C	ENSP00000458015.1:p.Glu112Gln
ENST00000566057.5:c.317G>C	ENSP00000456693.1:p.Ter106Ser
ENST00000566083.5:n.934G>C
ENST00000566824.5:n.752G>C
ENST00000567495.5:c.486G>C	ENSP00000456013.1:p.Leu162=
ENST00000567963.5:c.703G>C	ENSP00000455387.1:p.Glu235Gln
ENST00000568076.5:n.486G>C
ENST00000568224.4:c.469G>C	ENSP00000454253.1:p.Glu157Gln
ENST00000568422.5:c.339G>C	ENSP00000455549.1:p.Leu113=
ENST00000568452.5:n.703G>C
ENST00000568472.5:n.183G>C
ENST00000568497.5:c.248G>C	ENSP00000456414.1:p.Ter83Ser
ENST00000568558.5:c.244G>C	ENSP00000455603.1:p.Glu82Gln
ENST00000569030.5:c.461-1421G>C	ENSP00000454680.1:n.461-1421G>C
ENST00000569430.5:c.703G>C	ENSP00000454229.1:p.Glu235Gln
ENST00000628023.2:c.248G>C	ENSP00000486178.1:p.Ter83Ser
ENST00000631023.2:c.703G>C	ENSP00000486616.1:p.Glu235Gln
NM_000086.2:c.703G>C , LRG_689t1:c.703G>C	NP_000077.1:p.Glu235Gln
NM_001042432.1:c.703G>C , LRG_689t2:c.703G>C	NP_001035897.1:p.Glu235Gln
NM_001286104.1:c.631G>C	NP_001273033.1:p.Glu211Gln
NM_001286105.1:c.403G>C	NP_001273034.1:p.Glu135Gln
NM_001286109.1:c.469G>C	NP_001273038.1:p.Glu157Gln
NM_001286110.1:c.541G>C	NP_001273039.1:p.Glu181Gln
NM_001042432.2:c.703G>C MANE Select	NP_001035897.1:p.Glu235Gln
NM_001286104.2:c.631G>C	NP_001273033.1:p.Glu211Gln
NM_001286105.2:c.403G>C	NP_001273034.1:p.Glu135Gln
NM_001286109.2:c.469G>C	NP_001273038.1:p.Glu157Gln
NM_001286110.2:c.541G>C	NP_001273039.1:p.Glu181Gln