Canonical Allele Identifier: CA395344958

Gene: CLN3

Linked Data

• ClinVar Variation Id: 2709106
• ClinVar RCV Id: RCV003534074
• MyVariant Identifiers: chr16:g.28495433G>A (hg19) ; chr16:g.28484112G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484112G>A , CM000678.2:g.28484112G>A	GRCh38
NC_000016.9:g.28495433G>A , CM000678.1:g.28495433G>A	GRCh37
NC_000016.8:g.28402934G>A	NCBI36
NG_008654.2:g.13191C>T , LRG_689:g.13191C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.612C>T	ENSP00000329171.9:p.Phe204=
ENST00000355477.10:c.540C>T	ENSP00000347660.7:p.Phe180=
ENST00000357857.14:c.522C>T	ENSP00000350523.9:p.Phe174=
ENST00000359984.12:c.684C>T	ENSP00000353073.9:p.Phe228=
ENST00000360019.8:c.612C>T	ENSP00000353116.3:p.Phe204=
ENST00000395653.9:c.225C>T	ENSP00000379014.5:p.Phe75=
ENST00000561689.6:n.969C>T
ENST00000564091.6:c.24C>T	ENSP00000454466.2:p.Phe8=
ENST00000565316.6:c.684C>T	ENSP00000456117.1:p.Phe228=
ENST00000565778.6:c.315C>T	ENSP00000458015.1:p.Phe105=
ENST00000566083.6:n.1142C>T
ENST00000566824.6:n.664C>T
ENST00000567495.6:c.*143C>T	ENSP00000456013.2:n.*143C>T
ENST00000567963.6:c.522C>T	ENSP00000455387.2:p.Phe174=
ENST00000568076.6:n.811C>T
ENST00000568422.6:c.467C>T	ENSP00000455549.2:p.Ser156Phe
ENST00000568452.6:n.787C>T
ENST00000568472.6:n.560C>T
ENST00000568497.6:c.-286C>T	ENSP00000456414.2:n.-286C>T
ENST00000568558.6:c.387C>T	ENSP00000455603.2:p.Phe129=
ENST00000569430.7:c.684C>T	ENSP00000454229.1:p.Phe228=
ENST00000628023.3:c.229C>T	ENSP00000486178.1:p.Leu77Phe
ENST00000635861.1:c.*208C>T	ENSP00000490034.1:n.*208C>T
ENST00000635887.1:c.684C>T	ENSP00000490709.1:p.Phe228=
ENST00000635958.1:n.795C>T
ENST00000635973.1:c.435C>T	ENSP00000490363.1:p.Phe145=
ENST00000636017.1:c.*208C>T	ENSP00000490538.1:n.*208C>T
ENST00000636078.1:n.726C>T
ENST00000636147.2:c.684C>T MANE Select	ENSP00000490105.1:p.Phe228=
ENST00000636172.1:c.*208C>T	ENSP00000490505.1:n.*208C>T
ENST00000636228.1:c.378C>T	ENSP00000489627.1:p.Phe126=
ENST00000636351.1:n.404C>T
ENST00000636503.1:c.684C>T	ENSP00000489824.1:p.Phe228=
ENST00000636685.1:n.191C>T
ENST00000636766.1:c.684C>T	ENSP00000489841.1:p.Phe228=
ENST00000636839.1:n.836C>T
ENST00000636853.1:n.1599C>T
ENST00000636866.1:c.684C>T	ENSP00000490880.1:p.Phe228=
ENST00000636907.1:n.835C>T
ENST00000636977.1:n.1752C>T
ENST00000637050.1:n.771C>T
ENST00000637100.1:c.684C>T	ENSP00000490394.1:p.Phe228=
ENST00000637107.1:c.*208C>T	ENSP00000490248.1:n.*208C>T
ENST00000637184.1:c.684C>T	ENSP00000489952.1:p.Phe228=
ENST00000637299.1:c.*493C>T	ENSP00000489823.1:n.*493C>T
ENST00000637376.1:c.684C>T	ENSP00000490758.1:p.Phe228=
ENST00000637578.1:c.*208C>T	ENSP00000490206.1:n.*208C>T
ENST00000637699.1:c.467C>T	ENSP00000490049.1:p.Ser156Phe
ENST00000637745.1:c.23C>T
ENST00000637871.1:c.*208C>T	ENSP00000490670.1:n.*208C>T
ENST00000333496.13:c.612C>T	ENSP00000329171.9:p.Phe204=
ENST00000355477.9:c.467C>T	ENSP00000347660.6:p.Ser156Phe
ENST00000357806.11:c.387C>T	ENSP00000350457.7:p.Phe129=
ENST00000357857.13:c.522C>T	ENSP00000350523.9:p.Phe174=
ENST00000359984.11:c.378C>T	ENSP00000353073.8:p.Phe126=
ENST00000360019.6:c.684C>T	ENSP00000353116.2:p.Phe228=
ENST00000395653.8:c.384C>T	ENSP00000379014.4:p.Phe128=
ENST00000561689.5:n.525C>T
ENST00000563874.5:n.2038C>T
ENST00000564574.5:n.732C>T
ENST00000565047.1:n.278C>T
ENST00000565140.5:c.467C>T	ENSP00000455342.1:p.Ser156Phe
ENST00000565316.5:c.684C>T	ENSP00000456117.1:p.Phe228=
ENST00000565688.5:c.435C>T	ENSP00000456122.1:p.Phe145=
ENST00000565778.5:c.315C>T	ENSP00000458015.1:p.Phe105=
ENST00000566057.5:c.298C>T	ENSP00000456693.1:p.Leu100Phe
ENST00000566083.5:n.915C>T
ENST00000566824.5:n.733C>T
ENST00000567495.5:c.467C>T	ENSP00000456013.1:p.Ser156Phe
ENST00000567963.5:c.684C>T	ENSP00000455387.1:p.Phe228=
ENST00000568076.5:n.467C>T
ENST00000568224.4:c.450C>T	ENSP00000454253.1:p.Phe150=
ENST00000568422.5:c.320C>T	ENSP00000455549.1:p.Ser107Phe
ENST00000568452.5:n.684C>T
ENST00000568472.5:n.164C>T
ENST00000568497.5:c.229C>T	ENSP00000456414.1:p.Leu77Phe
ENST00000568558.5:c.225C>T	ENSP00000455603.1:p.Phe75=
ENST00000569030.5:c.461-1440C>T	ENSP00000454680.1:n.461-1440C>T
ENST00000569430.5:c.684C>T	ENSP00000454229.1:p.Phe228=
ENST00000628023.2:c.229C>T	ENSP00000486178.1:p.Leu77Phe
ENST00000631023.2:c.684C>T	ENSP00000486616.1:p.Phe228=
NM_000086.2:c.684C>T , LRG_689t1:c.684C>T	NP_000077.1:p.Phe228=
NM_001042432.1:c.684C>T , LRG_689t2:c.684C>T	NP_001035897.1:p.Phe228=
NM_001286104.1:c.612C>T	NP_001273033.1:p.Phe204=
NM_001286105.1:c.384C>T	NP_001273034.1:p.Phe128=
NM_001286109.1:c.450C>T	NP_001273038.1:p.Phe150=
NM_001286110.1:c.522C>T	NP_001273039.1:p.Phe174=
NM_001042432.2:c.684C>T MANE Select	NP_001035897.1:p.Phe228=
NM_001286104.2:c.612C>T	NP_001273033.1:p.Phe204=
NM_001286105.2:c.384C>T	NP_001273034.1:p.Phe128=
NM_001286109.2:c.450C>T	NP_001273038.1:p.Phe150=
NM_001286110.2:c.522C>T	NP_001273039.1:p.Phe174=