Canonical Allele Identifier: CA395344078

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493464A>T (hg19) ; chr16:g.28482143A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482143A>T , CM000678.2:g.28482143A>T	GRCh38
NC_000016.9:g.28493464A>T , CM000678.1:g.28493464A>T	GRCh37
NC_000016.8:g.28400965A>T	NCBI36
NG_008654.2:g.15160T>A , LRG_689:g.15160T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.946T>A	ENSP00000329171.9:p.Cys316Ser
ENST00000355477.10:c.874T>A	ENSP00000347660.7:p.Cys292Ser
ENST00000357857.14:c.856T>A	ENSP00000350523.9:p.Cys286Ser
ENST00000359984.12:c.1018T>A	ENSP00000353073.9:p.Cys340Ser
ENST00000360019.8:c.946T>A	ENSP00000353116.3:p.Cys316Ser
ENST00000395653.9:c.559T>A	ENSP00000379014.5:p.Cys187Ser
ENST00000561689.6:n.1431T>A
ENST00000564091.6:c.358T>A	ENSP00000454466.2:p.Cys120Ser
ENST00000565316.6:c.967T>A	ENSP00000456117.1:p.Cys323Ser
ENST00000566824.6:n.1078T>A
ENST00000567963.6:c.856T>A	ENSP00000455387.2:p.Cys286Ser
ENST00000568076.6:n.1447T>A
ENST00000568422.6:c.*255T>A	ENSP00000455549.2:n.*255T>A
ENST00000568452.6:n.1249T>A
ENST00000568497.6:c.49T>A	ENSP00000456414.2:p.Cys17Ser
ENST00000569430.7:c.1018T>A	ENSP00000454229.1:p.Cys340Ser
ENST00000628023.3:c.*314T>A	ENSP00000486178.1:n.*314T>A
ENST00000635861.1:c.*670T>A	ENSP00000490034.1:n.*670T>A
ENST00000635887.1:c.1018T>A	ENSP00000490709.1:p.Cys340Ser
ENST00000635958.1:n.1303T>A
ENST00000635973.1:c.769T>A	ENSP00000490363.1:p.Cys257Ser
ENST00000636017.1:c.*542T>A	ENSP00000490538.1:n.*542T>A
ENST00000636078.1:n.1140T>A
ENST00000636147.2:c.1018T>A MANE Select	ENSP00000490105.1:p.Cys340Ser
ENST00000636172.1:c.*542T>A	ENSP00000490505.1:n.*542T>A
ENST00000636228.1:c.712T>A	ENSP00000489627.1:p.Cys238Ser
ENST00000636351.1:n.912T>A
ENST00000636503.1:c.1018T>A	ENSP00000489824.1:p.Cys340Ser
ENST00000636685.1:n.699T>A
ENST00000636766.1:c.1018T>A	ENSP00000489841.1:p.Cys340Ser
ENST00000636839.1:n.1392T>A
ENST00000636853.1:n.1933T>A
ENST00000636866.1:c.1018T>A	ENSP00000490880.1:p.Cys340Ser
ENST00000636907.1:n.1169T>A
ENST00000636977.1:n.2388T>A
ENST00000637050.1:n.1407T>A
ENST00000637100.1:c.967T>A	ENSP00000490394.1:p.Cys323Ser
ENST00000637107.1:c.*542T>A	ENSP00000490248.1:n.*542T>A
ENST00000637184.1:c.1018T>A	ENSP00000489952.1:p.Cys340Ser
ENST00000637299.1:c.*827T>A	ENSP00000489823.1:n.*827T>A
ENST00000637376.1:c.1018T>A	ENSP00000490758.1:p.Cys340Ser
ENST00000637378.1:c.190T>A	ENSP00000490831.1:p.Cys64Ser
ENST00000637578.1:c.*542T>A	ENSP00000490206.1:n.*542T>A
ENST00000637699.1:c.929T>A	ENSP00000490049.1:n.929T>A
ENST00000637745.1:c.357T>A
ENST00000637871.1:c.*716T>A	ENSP00000490670.1:n.*716T>A
ENST00000638036.1:c.180T>A
ENST00000333496.13:c.946T>A	ENSP00000329171.9:p.Cys316Ser
ENST00000355477.9:c.*255T>A	ENSP00000347660.6:n.*255T>A
ENST00000357806.11:c.721T>A	ENSP00000350457.7:p.Cys241Ser
ENST00000357857.13:c.856T>A	ENSP00000350523.9:p.Cys286Ser
ENST00000359984.11:c.712T>A	ENSP00000353073.8:p.Cys238Ser
ENST00000360019.6:c.1018T>A	ENSP00000353116.2:p.Cys340Ser
ENST00000395653.8:c.718T>A	ENSP00000379014.4:p.Cys240Ser
ENST00000561689.5:n.987T>A
ENST00000563874.5:n.2546T>A
ENST00000564091.5:c.107T>A
ENST00000565140.5:c.801T>A	ENSP00000455342.1:n.801T>A
ENST00000565316.5:c.967T>A	ENSP00000456117.1:p.Cys323Ser
ENST00000565354.5:n.331T>A
ENST00000566057.5:c.632T>A	ENSP00000456693.1:n.632T>A
ENST00000567963.5:c.906+334T>A	ENSP00000455387.1:n.906+334T>A
ENST00000568076.5:n.929T>A
ENST00000568224.4:c.784T>A	ENSP00000454253.1:p.Cys262Ser
ENST00000568422.5:c.*255T>A	ENSP00000455549.1:n.*255T>A
ENST00000568452.5:n.1146T>A
ENST00000569030.5:c.688T>A	ENSP00000454680.1:p.Cys230Ser
ENST00000569430.5:c.1018T>A	ENSP00000454229.1:p.Cys340Ser
ENST00000628023.2:c.*314T>A	ENSP00000486178.1:n.*314T>A
ENST00000631023.2:c.906+334T>A	ENSP00000486616.1:n.906+334T>A
NM_000086.2:c.1018T>A , LRG_689t1:c.1018T>A	NP_000077.1:p.Cys340Ser
NM_001042432.1:c.1018T>A , LRG_689t2:c.1018T>A	NP_001035897.1:p.Cys340Ser
NM_001286104.1:c.946T>A	NP_001273033.1:p.Cys316Ser
NM_001286105.1:c.718T>A	NP_001273034.1:p.Cys240Ser
NM_001286109.1:c.784T>A	NP_001273038.1:p.Cys262Ser
NM_001286110.1:c.856T>A	NP_001273039.1:p.Cys286Ser
NM_001042432.2:c.1018T>A MANE Select	NP_001035897.1:p.Cys340Ser
NM_001286104.2:c.946T>A	NP_001273033.1:p.Cys316Ser
NM_001286105.2:c.718T>A	NP_001273034.1:p.Cys240Ser
NM_001286109.2:c.784T>A	NP_001273038.1:p.Cys262Ser
NM_001286110.2:c.856T>A	NP_001273039.1:p.Cys286Ser