Canonical Allele Identifier: CA2215673706

Gene: CLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484023G= , CM000678.2:g.28484023G=	GRCh38
NC_000016.9:g.28495344G= , CM000678.1:g.28495344G=	GRCh37
NC_000016.8:g.28402845G=	NCBI36
NG_008654.2:g.13280C= , LRG_689:g.13280C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.701C=	ENSP00000329171.9:p.Ala234=
ENST00000355477.10:c.629C=	ENSP00000347660.7:p.Ala210=
ENST00000357857.14:c.611C=	ENSP00000350523.9:p.Ala204=
ENST00000359984.12:c.773C=	ENSP00000353073.9:p.Ala258=
ENST00000360019.8:c.701C=	ENSP00000353116.3:p.Ala234=
ENST00000395653.9:c.314C=	ENSP00000379014.5:p.Ala105=
ENST00000561689.6:n.1058C=
ENST00000564091.6:c.113C=	ENSP00000454466.2:p.Ala38=
ENST00000565316.6:c.773C=	ENSP00000456117.1:p.Ala258=
ENST00000565778.6:c.404C=	ENSP00000458015.1:p.Ala135=
ENST00000566083.6:n.1231C=
ENST00000566824.6:n.753C=
ENST00000567963.6:c.611C=	ENSP00000455387.2:p.Ala204=
ENST00000568076.6:n.900C=
ENST00000568422.6:c.*10C=	ENSP00000455549.2:n.*10C=
ENST00000568452.6:n.876C=
ENST00000568472.6:n.649C=
ENST00000568497.6:c.-197C=	ENSP00000456414.2:n.-197C=
ENST00000568558.6:c.476C=	ENSP00000455603.2:p.Ala159=
ENST00000569430.7:c.773C=	ENSP00000454229.1:p.Ala258=
ENST00000628023.3:c.*69C=	ENSP00000486178.1:n.*69C=
ENST00000635861.1:c.*297C=	ENSP00000490034.1:n.*297C=
ENST00000635887.1:c.773C=	ENSP00000490709.1:p.Ala258=
ENST00000635958.1:n.884C=
ENST00000635973.1:c.524C=	ENSP00000490363.1:p.Ala175=
ENST00000636017.1:c.*297C=	ENSP00000490538.1:n.*297C=
ENST00000636078.1:n.815C=
ENST00000636147.2:c.773C= MANE Select	ENSP00000490105.1:p.Ala258=
ENST00000636172.1:c.*297C=	ENSP00000490505.1:n.*297C=
ENST00000636228.1:c.467C=	ENSP00000489627.1:p.Ala156=
ENST00000636351.1:n.493C=
ENST00000636503.1:c.773C=	ENSP00000489824.1:p.Ala258=
ENST00000636685.1:n.280C=
ENST00000636766.1:c.773C=	ENSP00000489841.1:p.Ala258=
ENST00000636839.1:n.925C=
ENST00000636853.1:n.1688C=
ENST00000636866.1:c.773C=	ENSP00000490880.1:p.Ala258=
ENST00000636907.1:n.924C=
ENST00000636977.1:n.1841C=
ENST00000637050.1:n.860C=
ENST00000637100.1:c.773C=	ENSP00000490394.1:p.Ala258=
ENST00000637107.1:c.*297C=	ENSP00000490248.1:n.*297C=
ENST00000637184.1:c.773C=	ENSP00000489952.1:p.Ala258=
ENST00000637299.1:c.*582C=	ENSP00000489823.1:n.*582C=
ENST00000637376.1:c.773C=	ENSP00000490758.1:p.Ala258=
ENST00000637578.1:c.*297C=	ENSP00000490206.1:n.*297C=
ENST00000637699.1:c.556C=	ENSP00000490049.1:n.556C=
ENST00000637745.1:c.112C=
ENST00000637871.1:c.*297C=	ENSP00000490670.1:n.*297C=
ENST00000333496.13:c.701C=	ENSP00000329171.9:p.Ala234=
ENST00000355477.9:c.*10C=	ENSP00000347660.6:n.*10C=
ENST00000357806.11:c.476C=	ENSP00000350457.7:p.Ala159=
ENST00000357857.13:c.611C=	ENSP00000350523.9:p.Ala204=
ENST00000359984.11:c.467C=	ENSP00000353073.8:p.Ala156=
ENST00000360019.6:c.773C=	ENSP00000353116.2:p.Ala258=
ENST00000395653.8:c.473C=	ENSP00000379014.4:p.Ala158=
ENST00000561689.5:n.614C=
ENST00000563874.5:n.2127C=
ENST00000564574.5:n.821C=
ENST00000565047.1:n.367C=
ENST00000565140.5:c.556C=	ENSP00000455342.1:n.556C=
ENST00000565316.5:c.773C=	ENSP00000456117.1:p.Ala258=
ENST00000565688.5:c.524C=	ENSP00000456122.1:p.Ala175=
ENST00000565778.5:c.404C=	ENSP00000458015.1:p.Ala135=
ENST00000566057.5:c.387C=	ENSP00000456693.1:n.387C=
ENST00000566083.5:n.1004C=
ENST00000566824.5:n.822C=
ENST00000567495.5:c.*10C=	ENSP00000456013.1:n.*10C=
ENST00000567963.5:c.773C=	ENSP00000455387.1:p.Ala258=
ENST00000568076.5:n.556C=
ENST00000568224.4:c.539C=	ENSP00000454253.1:p.Ala180=
ENST00000568422.5:c.*10C=	ENSP00000455549.1:n.*10C=
ENST00000568452.5:n.773C=
ENST00000568472.5:n.253C=
ENST00000568497.5:c.*69C=	ENSP00000456414.1:n.*69C=
ENST00000568558.5:c.314C=	ENSP00000455603.1:p.Ala105=
ENST00000569030.5:c.461-1351C=	ENSP00000454680.1:n.461-1351C=
ENST00000569430.5:c.773C=	ENSP00000454229.1:p.Ala258=
ENST00000628023.2:c.*69C=	ENSP00000486178.1:n.*69C=
ENST00000631023.2:c.773C=	ENSP00000486616.1:p.Ala258=
NM_000086.2:c.773C= , LRG_689t1:c.773C=	NP_000077.1:p.Ala258=
NM_001042432.1:c.773C= , LRG_689t2:c.773C=	NP_001035897.1:p.Ala258=
NM_001286104.1:c.701C=	NP_001273033.1:p.Ala234=
NM_001286105.1:c.473C=	NP_001273034.1:p.Ala158=
NM_001286109.1:c.539C=	NP_001273038.1:p.Ala180=
NM_001286110.1:c.611C=	NP_001273039.1:p.Ala204=
NM_001042432.2:c.773C= MANE Select	NP_001035897.1:p.Ala258=
NM_001286104.2:c.701C=	NP_001273033.1:p.Ala234=
NM_001286105.2:c.473C=	NP_001273034.1:p.Ala158=
NM_001286109.2:c.539C=	NP_001273038.1:p.Ala180=
NM_001286110.2:c.611C=	NP_001273039.1:p.Ala204=