Canonical Allele Identifier: CA395344062

Gene: CLN3

Linked Data

• dbSNP Id: rs775195638
• gnomAD v2: 16-28493461-G-T
• MyVariant Identifiers: chr16:g.28493461G>T (hg19) ; chr16:g.28482140G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482140G>T , CM000678.2:g.28482140G>T	GRCh38
NC_000016.9:g.28493461G>T , CM000678.1:g.28493461G>T	GRCh37
NC_000016.8:g.28400962G>T	NCBI36
NG_008654.2:g.15163C>A , LRG_689:g.15163C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.949C>A	ENSP00000329171.9:p.Arg317Ser
ENST00000355477.10:c.877C>A	ENSP00000347660.7:p.Arg293Ser
ENST00000357857.14:c.859C>A	ENSP00000350523.9:p.Arg287Ser
ENST00000359984.12:c.1021C>A	ENSP00000353073.9:p.Arg341Ser
ENST00000360019.8:c.949C>A	ENSP00000353116.3:p.Arg317Ser
ENST00000395653.9:c.562C>A	ENSP00000379014.5:p.Arg188Ser
ENST00000561689.6:n.1434C>A
ENST00000564091.6:c.361C>A	ENSP00000454466.2:p.Arg121Ser
ENST00000565316.6:c.970C>A	ENSP00000456117.1:p.Arg324Ser
ENST00000566824.6:n.1081C>A
ENST00000567963.6:c.859C>A	ENSP00000455387.2:p.Arg287Ser
ENST00000568076.6:n.1450C>A
ENST00000568422.6:c.*258C>A	ENSP00000455549.2:n.*258C>A
ENST00000568452.6:n.1252C>A
ENST00000568497.6:c.52C>A	ENSP00000456414.2:p.Arg18Ser
ENST00000569430.7:c.1021C>A	ENSP00000454229.1:p.Arg341Ser
ENST00000628023.3:c.*317C>A	ENSP00000486178.1:n.*317C>A
ENST00000635861.1:c.*673C>A	ENSP00000490034.1:n.*673C>A
ENST00000635887.1:c.1021C>A	ENSP00000490709.1:p.Arg341Ser
ENST00000635958.1:n.1306C>A
ENST00000635973.1:c.772C>A	ENSP00000490363.1:p.Arg258Ser
ENST00000636017.1:c.*545C>A	ENSP00000490538.1:n.*545C>A
ENST00000636078.1:n.1143C>A
ENST00000636147.2:c.1021C>A MANE Select	ENSP00000490105.1:p.Arg341Ser
ENST00000636172.1:c.*545C>A	ENSP00000490505.1:n.*545C>A
ENST00000636228.1:c.715C>A	ENSP00000489627.1:p.Arg239Ser
ENST00000636351.1:n.915C>A
ENST00000636503.1:c.1021C>A	ENSP00000489824.1:p.Arg341Ser
ENST00000636685.1:n.702C>A
ENST00000636766.1:c.1021C>A	ENSP00000489841.1:p.Arg341Ser
ENST00000636839.1:n.1395C>A
ENST00000636853.1:n.1936C>A
ENST00000636866.1:c.1021C>A	ENSP00000490880.1:p.Arg341Ser
ENST00000636907.1:n.1172C>A
ENST00000636977.1:n.2391C>A
ENST00000637050.1:n.1410C>A
ENST00000637100.1:c.970C>A	ENSP00000490394.1:p.Arg324Ser
ENST00000637107.1:c.*545C>A	ENSP00000490248.1:n.*545C>A
ENST00000637184.1:c.1021C>A	ENSP00000489952.1:p.Arg341Ser
ENST00000637299.1:c.*830C>A	ENSP00000489823.1:n.*830C>A
ENST00000637376.1:c.1021C>A	ENSP00000490758.1:p.Arg341Ser
ENST00000637378.1:c.193C>A	ENSP00000490831.1:p.Arg65Ser
ENST00000637578.1:c.*545C>A	ENSP00000490206.1:n.*545C>A
ENST00000637699.1:c.932C>A	ENSP00000490049.1:n.932C>A
ENST00000637745.1:c.360C>A
ENST00000637871.1:c.*719C>A	ENSP00000490670.1:n.*719C>A
ENST00000638036.1:c.183C>A
ENST00000333496.13:c.949C>A	ENSP00000329171.9:p.Arg317Ser
ENST00000355477.9:c.*258C>A	ENSP00000347660.6:n.*258C>A
ENST00000357806.11:c.724C>A	ENSP00000350457.7:p.Arg242Ser
ENST00000357857.13:c.859C>A	ENSP00000350523.9:p.Arg287Ser
ENST00000359984.11:c.715C>A	ENSP00000353073.8:p.Arg239Ser
ENST00000360019.6:c.1021C>A	ENSP00000353116.2:p.Arg341Ser
ENST00000395653.8:c.721C>A	ENSP00000379014.4:p.Arg241Ser
ENST00000561689.5:n.990C>A
ENST00000563874.5:n.2549C>A
ENST00000564091.5:c.110C>A
ENST00000565140.5:c.804C>A	ENSP00000455342.1:n.804C>A
ENST00000565316.5:c.970C>A	ENSP00000456117.1:p.Arg324Ser
ENST00000565354.5:n.334C>A
ENST00000566057.5:c.635C>A	ENSP00000456693.1:n.635C>A
ENST00000567963.5:c.906+337C>A	ENSP00000455387.1:n.906+337C>A
ENST00000568076.5:n.932C>A
ENST00000568224.4:c.787C>A	ENSP00000454253.1:p.Arg263Ser
ENST00000568422.5:c.*258C>A	ENSP00000455549.1:n.*258C>A
ENST00000568452.5:n.1149C>A
ENST00000569030.5:c.691C>A	ENSP00000454680.1:p.Arg231Ser
ENST00000569430.5:c.1021C>A	ENSP00000454229.1:p.Arg341Ser
ENST00000628023.2:c.*317C>A	ENSP00000486178.1:n.*317C>A
ENST00000631023.2:c.906+337C>A	ENSP00000486616.1:n.906+337C>A
NM_000086.2:c.1021C>A , LRG_689t1:c.1021C>A	NP_000077.1:p.Arg341Ser
NM_001042432.1:c.1021C>A , LRG_689t2:c.1021C>A	NP_001035897.1:p.Arg341Ser
NM_001286104.1:c.949C>A	NP_001273033.1:p.Arg317Ser
NM_001286105.1:c.721C>A	NP_001273034.1:p.Arg241Ser
NM_001286109.1:c.787C>A	NP_001273038.1:p.Arg263Ser
NM_001286110.1:c.859C>A	NP_001273039.1:p.Arg287Ser
NM_001042432.2:c.1021C>A MANE Select	NP_001035897.1:p.Arg341Ser
NM_001286104.2:c.949C>A	NP_001273033.1:p.Arg317Ser
NM_001286105.2:c.721C>A	NP_001273034.1:p.Arg241Ser
NM_001286109.2:c.787C>A	NP_001273038.1:p.Arg263Ser
NM_001286110.2:c.859C>A	NP_001273039.1:p.Arg287Ser