Canonical Allele Identifier: CA395344067

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493463C>A (hg19) ; chr16:g.28482142C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482142C>A , CM000678.2:g.28482142C>A	GRCh38
NC_000016.9:g.28493463C>A , CM000678.1:g.28493463C>A	GRCh37
NC_000016.8:g.28400964C>A	NCBI36
NG_008654.2:g.15161G>T , LRG_689:g.15161G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.947G>T	ENSP00000329171.9:p.Cys316Phe
ENST00000355477.10:c.875G>T	ENSP00000347660.7:p.Cys292Phe
ENST00000357857.14:c.857G>T	ENSP00000350523.9:p.Cys286Phe
ENST00000359984.12:c.1019G>T	ENSP00000353073.9:p.Cys340Phe
ENST00000360019.8:c.947G>T	ENSP00000353116.3:p.Cys316Phe
ENST00000395653.9:c.560G>T	ENSP00000379014.5:p.Cys187Phe
ENST00000561689.6:n.1432G>T
ENST00000564091.6:c.359G>T	ENSP00000454466.2:p.Cys120Phe
ENST00000565316.6:c.968G>T	ENSP00000456117.1:p.Cys323Phe
ENST00000566824.6:n.1079G>T
ENST00000567963.6:c.857G>T	ENSP00000455387.2:p.Cys286Phe
ENST00000568076.6:n.1448G>T
ENST00000568422.6:c.*256G>T	ENSP00000455549.2:n.*256G>T
ENST00000568452.6:n.1250G>T
ENST00000568497.6:c.50G>T	ENSP00000456414.2:p.Cys17Phe
ENST00000569430.7:c.1019G>T	ENSP00000454229.1:p.Cys340Phe
ENST00000628023.3:c.*315G>T	ENSP00000486178.1:n.*315G>T
ENST00000635861.1:c.*671G>T	ENSP00000490034.1:n.*671G>T
ENST00000635887.1:c.1019G>T	ENSP00000490709.1:p.Cys340Phe
ENST00000635958.1:n.1304G>T
ENST00000635973.1:c.770G>T	ENSP00000490363.1:p.Cys257Phe
ENST00000636017.1:c.*543G>T	ENSP00000490538.1:n.*543G>T
ENST00000636078.1:n.1141G>T
ENST00000636147.2:c.1019G>T MANE Select	ENSP00000490105.1:p.Cys340Phe
ENST00000636172.1:c.*543G>T	ENSP00000490505.1:n.*543G>T
ENST00000636228.1:c.713G>T	ENSP00000489627.1:p.Cys238Phe
ENST00000636351.1:n.913G>T
ENST00000636503.1:c.1019G>T	ENSP00000489824.1:p.Cys340Phe
ENST00000636685.1:n.700G>T
ENST00000636766.1:c.1019G>T	ENSP00000489841.1:p.Cys340Phe
ENST00000636839.1:n.1393G>T
ENST00000636853.1:n.1934G>T
ENST00000636866.1:c.1019G>T	ENSP00000490880.1:p.Cys340Phe
ENST00000636907.1:n.1170G>T
ENST00000636977.1:n.2389G>T
ENST00000637050.1:n.1408G>T
ENST00000637100.1:c.968G>T	ENSP00000490394.1:p.Cys323Phe
ENST00000637107.1:c.*543G>T	ENSP00000490248.1:n.*543G>T
ENST00000637184.1:c.1019G>T	ENSP00000489952.1:p.Cys340Phe
ENST00000637299.1:c.*828G>T	ENSP00000489823.1:n.*828G>T
ENST00000637376.1:c.1019G>T	ENSP00000490758.1:p.Cys340Phe
ENST00000637378.1:c.191G>T	ENSP00000490831.1:p.Cys64Phe
ENST00000637578.1:c.*543G>T	ENSP00000490206.1:n.*543G>T
ENST00000637699.1:c.930G>T	ENSP00000490049.1:n.930G>T
ENST00000637745.1:c.358G>T
ENST00000637871.1:c.*717G>T	ENSP00000490670.1:n.*717G>T
ENST00000638036.1:c.181G>T
ENST00000333496.13:c.947G>T	ENSP00000329171.9:p.Cys316Phe
ENST00000355477.9:c.*256G>T	ENSP00000347660.6:n.*256G>T
ENST00000357806.11:c.722G>T	ENSP00000350457.7:p.Cys241Phe
ENST00000357857.13:c.857G>T	ENSP00000350523.9:p.Cys286Phe
ENST00000359984.11:c.713G>T	ENSP00000353073.8:p.Cys238Phe
ENST00000360019.6:c.1019G>T	ENSP00000353116.2:p.Cys340Phe
ENST00000395653.8:c.719G>T	ENSP00000379014.4:p.Cys240Phe
ENST00000561689.5:n.988G>T
ENST00000563874.5:n.2547G>T
ENST00000564091.5:c.108G>T
ENST00000565140.5:c.802G>T	ENSP00000455342.1:n.802G>T
ENST00000565316.5:c.968G>T	ENSP00000456117.1:p.Cys323Phe
ENST00000565354.5:n.332G>T
ENST00000566057.5:c.633G>T	ENSP00000456693.1:n.633G>T
ENST00000567963.5:c.906+335G>T	ENSP00000455387.1:n.906+335G>T
ENST00000568076.5:n.930G>T
ENST00000568224.4:c.785G>T	ENSP00000454253.1:p.Cys262Phe
ENST00000568422.5:c.*256G>T	ENSP00000455549.1:n.*256G>T
ENST00000568452.5:n.1147G>T
ENST00000569030.5:c.689G>T	ENSP00000454680.1:p.Cys230Phe
ENST00000569430.5:c.1019G>T	ENSP00000454229.1:p.Cys340Phe
ENST00000628023.2:c.*315G>T	ENSP00000486178.1:n.*315G>T
ENST00000631023.2:c.906+335G>T	ENSP00000486616.1:n.906+335G>T
NM_000086.2:c.1019G>T , LRG_689t1:c.1019G>T	NP_000077.1:p.Cys340Phe
NM_001042432.1:c.1019G>T , LRG_689t2:c.1019G>T	NP_001035897.1:p.Cys340Phe
NM_001286104.1:c.947G>T	NP_001273033.1:p.Cys316Phe
NM_001286105.1:c.719G>T	NP_001273034.1:p.Cys240Phe
NM_001286109.1:c.785G>T	NP_001273038.1:p.Cys262Phe
NM_001286110.1:c.857G>T	NP_001273039.1:p.Cys286Phe
NM_001042432.2:c.1019G>T MANE Select	NP_001035897.1:p.Cys340Phe
NM_001286104.2:c.947G>T	NP_001273033.1:p.Cys316Phe
NM_001286105.2:c.719G>T	NP_001273034.1:p.Cys240Phe
NM_001286109.2:c.785G>T	NP_001273038.1:p.Cys262Phe
NM_001286110.2:c.857G>T	NP_001273039.1:p.Cys286Phe