Canonical Allele Identifier: CA395344903

Gene: CLN3

Linked Data

• dbSNP Id: rs2046161225
• MyVariant Identifiers: chr16:g.28495412C>G (hg19) ; chr16:g.28484091C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484091C>G , CM000678.2:g.28484091C>G	GRCh38
NC_000016.9:g.28495412C>G , CM000678.1:g.28495412C>G	GRCh37
NC_000016.8:g.28402913C>G	NCBI36
NG_008654.2:g.13212G>C , LRG_689:g.13212G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.633G>C	ENSP00000329171.9:p.Glu211Asp
ENST00000355477.10:c.561G>C	ENSP00000347660.7:p.Glu187Asp
ENST00000357857.14:c.543G>C	ENSP00000350523.9:p.Glu181Asp
ENST00000359984.12:c.705G>C	ENSP00000353073.9:p.Glu235Asp
ENST00000360019.8:c.633G>C	ENSP00000353116.3:p.Glu211Asp
ENST00000395653.9:c.246G>C	ENSP00000379014.5:p.Glu82Asp
ENST00000561689.6:n.990G>C
ENST00000564091.6:c.45G>C	ENSP00000454466.2:p.Glu15Asp
ENST00000565316.6:c.705G>C	ENSP00000456117.1:p.Glu235Asp
ENST00000565778.6:c.336G>C	ENSP00000458015.1:p.Glu112Asp
ENST00000566083.6:n.1163G>C
ENST00000566824.6:n.685G>C
ENST00000567495.6:c.*164G>C	ENSP00000456013.2:n.*164G>C
ENST00000567963.6:c.543G>C	ENSP00000455387.2:p.Glu181Asp
ENST00000568076.6:n.832G>C
ENST00000568422.6:c.488G>C	ENSP00000455549.2:p.Arg163Thr
ENST00000568452.6:n.808G>C
ENST00000568472.6:n.581G>C
ENST00000568497.6:c.-265G>C	ENSP00000456414.2:n.-265G>C
ENST00000568558.6:c.408G>C	ENSP00000455603.2:p.Glu136Asp
ENST00000569430.7:c.705G>C	ENSP00000454229.1:p.Glu235Asp
ENST00000628023.3:c.*1G>C	ENSP00000486178.1:n.*1G>C
ENST00000635861.1:c.*229G>C	ENSP00000490034.1:n.*229G>C
ENST00000635887.1:c.705G>C	ENSP00000490709.1:p.Glu235Asp
ENST00000635958.1:n.816G>C
ENST00000635973.1:c.456G>C	ENSP00000490363.1:p.Glu152Asp
ENST00000636017.1:c.*229G>C	ENSP00000490538.1:n.*229G>C
ENST00000636078.1:n.747G>C
ENST00000636147.2:c.705G>C MANE Select	ENSP00000490105.1:p.Glu235Asp
ENST00000636172.1:c.*229G>C	ENSP00000490505.1:n.*229G>C
ENST00000636228.1:c.399G>C	ENSP00000489627.1:p.Glu133Asp
ENST00000636351.1:n.425G>C
ENST00000636503.1:c.705G>C	ENSP00000489824.1:p.Glu235Asp
ENST00000636685.1:n.212G>C
ENST00000636766.1:c.705G>C	ENSP00000489841.1:p.Glu235Asp
ENST00000636839.1:n.857G>C
ENST00000636853.1:n.1620G>C
ENST00000636866.1:c.705G>C	ENSP00000490880.1:p.Glu235Asp
ENST00000636907.1:n.856G>C
ENST00000636977.1:n.1773G>C
ENST00000637050.1:n.792G>C
ENST00000637100.1:c.705G>C	ENSP00000490394.1:p.Glu235Asp
ENST00000637107.1:c.*229G>C	ENSP00000490248.1:n.*229G>C
ENST00000637184.1:c.705G>C	ENSP00000489952.1:p.Glu235Asp
ENST00000637299.1:c.*514G>C	ENSP00000489823.1:n.*514G>C
ENST00000637376.1:c.705G>C	ENSP00000490758.1:p.Glu235Asp
ENST00000637578.1:c.*229G>C	ENSP00000490206.1:n.*229G>C
ENST00000637699.1:c.488G>C	ENSP00000490049.1:p.Arg163Thr
ENST00000637745.1:c.44G>C
ENST00000637871.1:c.*229G>C	ENSP00000490670.1:n.*229G>C
ENST00000333496.13:c.633G>C	ENSP00000329171.9:p.Glu211Asp
ENST00000355477.9:c.488G>C	ENSP00000347660.6:p.Arg163Thr
ENST00000357806.11:c.408G>C	ENSP00000350457.7:p.Glu136Asp
ENST00000357857.13:c.543G>C	ENSP00000350523.9:p.Glu181Asp
ENST00000359984.11:c.399G>C	ENSP00000353073.8:p.Glu133Asp
ENST00000360019.6:c.705G>C	ENSP00000353116.2:p.Glu235Asp
ENST00000395653.8:c.405G>C	ENSP00000379014.4:p.Glu135Asp
ENST00000561689.5:n.546G>C
ENST00000563874.5:n.2059G>C
ENST00000564574.5:n.753G>C
ENST00000565047.1:n.299G>C
ENST00000565140.5:c.488G>C	ENSP00000455342.1:p.Arg163Thr
ENST00000565316.5:c.705G>C	ENSP00000456117.1:p.Glu235Asp
ENST00000565688.5:c.456G>C	ENSP00000456122.1:p.Glu152Asp
ENST00000565778.5:c.336G>C	ENSP00000458015.1:p.Glu112Asp
ENST00000566057.5:c.319G>C	ENSP00000456693.1:n.319G>C
ENST00000566083.5:n.936G>C
ENST00000566824.5:n.754G>C
ENST00000567495.5:c.488G>C	ENSP00000456013.1:p.Arg163Thr
ENST00000567963.5:c.705G>C	ENSP00000455387.1:p.Glu235Asp
ENST00000568076.5:n.488G>C
ENST00000568224.4:c.471G>C	ENSP00000454253.1:p.Glu157Asp
ENST00000568422.5:c.341G>C	ENSP00000455549.1:p.Arg114Thr
ENST00000568452.5:n.705G>C
ENST00000568472.5:n.185G>C
ENST00000568497.5:c.*1G>C	ENSP00000456414.1:n.*1G>C
ENST00000568558.5:c.246G>C	ENSP00000455603.1:p.Glu82Asp
ENST00000569030.5:c.461-1419G>C	ENSP00000454680.1:n.461-1419G>C
ENST00000569430.5:c.705G>C	ENSP00000454229.1:p.Glu235Asp
ENST00000628023.2:c.*1G>C	ENSP00000486178.1:n.*1G>C
ENST00000631023.2:c.705G>C	ENSP00000486616.1:p.Glu235Asp
NM_000086.2:c.705G>C , LRG_689t1:c.705G>C	NP_000077.1:p.Glu235Asp
NM_001042432.1:c.705G>C , LRG_689t2:c.705G>C	NP_001035897.1:p.Glu235Asp
NM_001286104.1:c.633G>C	NP_001273033.1:p.Glu211Asp
NM_001286105.1:c.405G>C	NP_001273034.1:p.Glu135Asp
NM_001286109.1:c.471G>C	NP_001273038.1:p.Glu157Asp
NM_001286110.1:c.543G>C	NP_001273039.1:p.Glu181Asp
NM_001042432.2:c.705G>C MANE Select	NP_001035897.1:p.Glu235Asp
NM_001286104.2:c.633G>C	NP_001273033.1:p.Glu211Asp
NM_001286105.2:c.405G>C	NP_001273034.1:p.Glu135Asp
NM_001286109.2:c.471G>C	NP_001273038.1:p.Glu157Asp
NM_001286110.2:c.543G>C	NP_001273039.1:p.Glu181Asp