Canonical Allele Identifier: CA395344838

Gene: CLN3

Linked Data

• gnomAD v4: 16-28484069-C-A
• MyVariant Identifiers: chr16:g.28495390C>A (hg19) ; chr16:g.28484069C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484069C>A , CM000678.2:g.28484069C>A	GRCh38
NC_000016.9:g.28495390C>A , CM000678.1:g.28495390C>A	GRCh37
NC_000016.8:g.28402891C>A	NCBI36
NG_008654.2:g.13234G>T , LRG_689:g.13234G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.655G>T	ENSP00000329171.9:p.Glu219Ter
ENST00000355477.10:c.583G>T	ENSP00000347660.7:p.Glu195Ter
ENST00000357857.14:c.565G>T	ENSP00000350523.9:p.Glu189Ter
ENST00000359984.12:c.727G>T	ENSP00000353073.9:p.Glu243Ter
ENST00000360019.8:c.655G>T	ENSP00000353116.3:p.Glu219Ter
ENST00000395653.9:c.268G>T	ENSP00000379014.5:p.Glu90Ter
ENST00000561689.6:n.1012G>T
ENST00000564091.6:c.67G>T	ENSP00000454466.2:p.Glu23Ter
ENST00000565316.6:c.727G>T	ENSP00000456117.1:p.Glu243Ter
ENST00000565778.6:c.358G>T	ENSP00000458015.1:p.Glu120Ter
ENST00000566083.6:n.1185G>T
ENST00000566824.6:n.707G>T
ENST00000567963.6:c.565G>T	ENSP00000455387.2:p.Glu189Ter
ENST00000568076.6:n.854G>T
ENST00000568422.6:c.510G>T	ENSP00000455549.2:p.Lys170Asn
ENST00000568452.6:n.830G>T
ENST00000568472.6:n.603G>T
ENST00000568497.6:c.-243G>T	ENSP00000456414.2:n.-243G>T
ENST00000568558.6:c.430G>T	ENSP00000455603.2:p.Glu144Ter
ENST00000569430.7:c.727G>T	ENSP00000454229.1:p.Glu243Ter
ENST00000628023.3:c.*23G>T	ENSP00000486178.1:n.*23G>T
ENST00000635861.1:c.*251G>T	ENSP00000490034.1:n.*251G>T
ENST00000635887.1:c.727G>T	ENSP00000490709.1:p.Glu243Ter
ENST00000635958.1:n.838G>T
ENST00000635973.1:c.478G>T	ENSP00000490363.1:p.Glu160Ter
ENST00000636017.1:c.*251G>T	ENSP00000490538.1:n.*251G>T
ENST00000636078.1:n.769G>T
ENST00000636147.2:c.727G>T MANE Select	ENSP00000490105.1:p.Glu243Ter
ENST00000636172.1:c.*251G>T	ENSP00000490505.1:n.*251G>T
ENST00000636228.1:c.421G>T	ENSP00000489627.1:p.Glu141Ter
ENST00000636351.1:n.447G>T
ENST00000636503.1:c.727G>T	ENSP00000489824.1:p.Glu243Ter
ENST00000636685.1:n.234G>T
ENST00000636766.1:c.727G>T	ENSP00000489841.1:p.Glu243Ter
ENST00000636839.1:n.879G>T
ENST00000636853.1:n.1642G>T
ENST00000636866.1:c.727G>T	ENSP00000490880.1:p.Glu243Ter
ENST00000636907.1:n.878G>T
ENST00000636977.1:n.1795G>T
ENST00000637050.1:n.814G>T
ENST00000637100.1:c.727G>T	ENSP00000490394.1:p.Glu243Ter
ENST00000637107.1:c.*251G>T	ENSP00000490248.1:n.*251G>T
ENST00000637184.1:c.727G>T	ENSP00000489952.1:p.Glu243Ter
ENST00000637299.1:c.*536G>T	ENSP00000489823.1:n.*536G>T
ENST00000637376.1:c.727G>T	ENSP00000490758.1:p.Glu243Ter
ENST00000637578.1:c.*251G>T	ENSP00000490206.1:n.*251G>T
ENST00000637699.1:c.510G>T	ENSP00000490049.1:p.Lys170Asn
ENST00000637745.1:c.66G>T
ENST00000637871.1:c.*251G>T	ENSP00000490670.1:n.*251G>T
ENST00000333496.13:c.655G>T	ENSP00000329171.9:p.Glu219Ter
ENST00000355477.9:c.510G>T	ENSP00000347660.6:p.Lys170Asn
ENST00000357806.11:c.430G>T	ENSP00000350457.7:p.Glu144Ter
ENST00000357857.13:c.565G>T	ENSP00000350523.9:p.Glu189Ter
ENST00000359984.11:c.421G>T	ENSP00000353073.8:p.Glu141Ter
ENST00000360019.6:c.727G>T	ENSP00000353116.2:p.Glu243Ter
ENST00000395653.8:c.427G>T	ENSP00000379014.4:p.Glu143Ter
ENST00000561689.5:n.568G>T
ENST00000563874.5:n.2081G>T
ENST00000564574.5:n.775G>T
ENST00000565047.1:n.321G>T
ENST00000565140.5:c.510G>T	ENSP00000455342.1:p.Lys170Asn
ENST00000565316.5:c.727G>T	ENSP00000456117.1:p.Glu243Ter
ENST00000565688.5:c.478G>T	ENSP00000456122.1:p.Glu160Ter
ENST00000565778.5:c.358G>T	ENSP00000458015.1:p.Glu120Ter
ENST00000566057.5:c.341G>T	ENSP00000456693.1:n.341G>T
ENST00000566083.5:n.958G>T
ENST00000566824.5:n.776G>T
ENST00000567495.5:c.510G>T	ENSP00000456013.1:p.Lys170Asn
ENST00000567963.5:c.727G>T	ENSP00000455387.1:p.Glu243Ter
ENST00000568076.5:n.510G>T
ENST00000568224.4:c.493G>T	ENSP00000454253.1:p.Glu165Ter
ENST00000568422.5:c.363G>T	ENSP00000455549.1:p.Lys121Asn
ENST00000568452.5:n.727G>T
ENST00000568472.5:n.207G>T
ENST00000568497.5:c.*23G>T	ENSP00000456414.1:n.*23G>T
ENST00000568558.5:c.268G>T	ENSP00000455603.1:p.Glu90Ter
ENST00000569030.5:c.461-1397G>T	ENSP00000454680.1:n.461-1397G>T
ENST00000569430.5:c.727G>T	ENSP00000454229.1:p.Glu243Ter
ENST00000628023.2:c.*23G>T	ENSP00000486178.1:n.*23G>T
ENST00000631023.2:c.727G>T	ENSP00000486616.1:p.Glu243Ter
NM_000086.2:c.727G>T , LRG_689t1:c.727G>T	NP_000077.1:p.Glu243Ter
NM_001042432.1:c.727G>T , LRG_689t2:c.727G>T	NP_001035897.1:p.Glu243Ter
NM_001286104.1:c.655G>T	NP_001273033.1:p.Glu219Ter
NM_001286105.1:c.427G>T	NP_001273034.1:p.Glu143Ter
NM_001286109.1:c.493G>T	NP_001273038.1:p.Glu165Ter
NM_001286110.1:c.565G>T	NP_001273039.1:p.Glu189Ter
NM_001042432.2:c.727G>T MANE Select	NP_001035897.1:p.Glu243Ter
NM_001286104.2:c.655G>T	NP_001273033.1:p.Glu219Ter
NM_001286105.2:c.427G>T	NP_001273034.1:p.Glu143Ter
NM_001286109.2:c.493G>T	NP_001273038.1:p.Glu165Ter
NM_001286110.2:c.565G>T	NP_001273039.1:p.Glu189Ter