Canonical Allele Identifier: CA2215673950
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28484103G= , CM000678.2:g.28484103G= GRCh38
NC_000016.9:g.28495424G= , CM000678.1:g.28495424G= GRCh37
NC_000016.8:g.28402925G= NCBI36
NG_008654.2:g.13200C= , LRG_689:g.13200C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.621C= ENSP00000329171.9:p.Leu207=
ENST00000355477.10:c.549C= ENSP00000347660.7:p.Leu183=
ENST00000357857.14:c.531C= ENSP00000350523.9:p.Leu177=
ENST00000359984.12:c.693C= ENSP00000353073.9:p.Leu231=
ENST00000360019.8:c.621C= ENSP00000353116.3:p.Leu207=
ENST00000395653.9:c.234C= ENSP00000379014.5:p.Leu78=
ENST00000561689.6:n.978C=
ENST00000564091.6:c.33C= ENSP00000454466.2:p.Leu11=
ENST00000565316.6:c.693C= ENSP00000456117.1:p.Leu231=
ENST00000565778.6:c.324C= ENSP00000458015.1:p.Leu108=
ENST00000566083.6:n.1151C=
ENST00000566824.6:n.673C=
ENST00000567495.6:c.*152C= ENSP00000456013.2:n.*152C=
ENST00000567963.6:c.531C= ENSP00000455387.2:p.Leu177=
ENST00000568076.6:n.820C=
ENST00000568422.6:c.476C= ENSP00000455549.2:p.Ser159=
ENST00000568452.6:n.796C=
ENST00000568472.6:n.569C=
ENST00000568497.6:c.-277C= ENSP00000456414.2:n.-277C=
ENST00000568558.6:c.396C= ENSP00000455603.2:p.Leu132=
ENST00000569430.7:c.693C= ENSP00000454229.1:p.Leu231=
ENST00000628023.3:c.238C= ENSP00000486178.1:p.His80=
ENST00000635861.1:c.*217C= ENSP00000490034.1:n.*217C=
ENST00000635887.1:c.693C= ENSP00000490709.1:p.Leu231=
ENST00000635958.1:n.804C=
ENST00000635973.1:c.444C= ENSP00000490363.1:p.Leu148=
ENST00000636017.1:c.*217C= ENSP00000490538.1:n.*217C=
ENST00000636078.1:n.735C=
ENST00000636147.2:c.693C= MANE Select ENSP00000490105.1:p.Leu231=
ENST00000636172.1:c.*217C= ENSP00000490505.1:n.*217C=
ENST00000636228.1:c.387C= ENSP00000489627.1:p.Leu129=
ENST00000636351.1:n.413C=
ENST00000636503.1:c.693C= ENSP00000489824.1:p.Leu231=
ENST00000636685.1:n.200C=
ENST00000636766.1:c.693C= ENSP00000489841.1:p.Leu231=
ENST00000636839.1:n.845C=
ENST00000636853.1:n.1608C=
ENST00000636866.1:c.693C= ENSP00000490880.1:p.Leu231=
ENST00000636907.1:n.844C=
ENST00000636977.1:n.1761C=
ENST00000637050.1:n.780C=
ENST00000637100.1:c.693C= ENSP00000490394.1:p.Leu231=
ENST00000637107.1:c.*217C= ENSP00000490248.1:n.*217C=
ENST00000637184.1:c.693C= ENSP00000489952.1:p.Leu231=
ENST00000637299.1:c.*502C= ENSP00000489823.1:n.*502C=
ENST00000637376.1:c.693C= ENSP00000490758.1:p.Leu231=
ENST00000637578.1:c.*217C= ENSP00000490206.1:n.*217C=
ENST00000637699.1:c.476C= ENSP00000490049.1:p.Ser159=
ENST00000637745.1:c.32C=
ENST00000637871.1:c.*217C= ENSP00000490670.1:n.*217C=
ENST00000333496.13:c.621C= ENSP00000329171.9:p.Leu207=
ENST00000355477.9:c.476C= ENSP00000347660.6:p.Ser159=
ENST00000357806.11:c.396C= ENSP00000350457.7:p.Leu132=
ENST00000357857.13:c.531C= ENSP00000350523.9:p.Leu177=
ENST00000359984.11:c.387C= ENSP00000353073.8:p.Leu129=
ENST00000360019.6:c.693C= ENSP00000353116.2:p.Leu231=
ENST00000395653.8:c.393C= ENSP00000379014.4:p.Leu131=
ENST00000561689.5:n.534C=
ENST00000563874.5:n.2047C=
ENST00000564574.5:n.741C=
ENST00000565047.1:n.287C=
ENST00000565140.5:c.476C= ENSP00000455342.1:p.Ser159=
ENST00000565316.5:c.693C= ENSP00000456117.1:p.Leu231=
ENST00000565688.5:c.444C= ENSP00000456122.1:p.Leu148=
ENST00000565778.5:c.324C= ENSP00000458015.1:p.Leu108=
ENST00000566057.5:c.307C= ENSP00000456693.1:p.His103=
ENST00000566083.5:n.924C=
ENST00000566824.5:n.742C=
ENST00000567495.5:c.476C= ENSP00000456013.1:p.Ser159=
ENST00000567963.5:c.693C= ENSP00000455387.1:p.Leu231=
ENST00000568076.5:n.476C=
ENST00000568224.4:c.459C= ENSP00000454253.1:p.Leu153=
ENST00000568422.5:c.329C= ENSP00000455549.1:p.Ser110=
ENST00000568452.5:n.693C=
ENST00000568472.5:n.173C=
ENST00000568497.5:c.238C= ENSP00000456414.1:p.His80=
ENST00000568558.5:c.234C= ENSP00000455603.1:p.Leu78=
ENST00000569030.5:c.461-1431C= ENSP00000454680.1:n.461-1431C=
ENST00000569430.5:c.693C= ENSP00000454229.1:p.Leu231=
ENST00000628023.2:c.238C= ENSP00000486178.1:p.His80=
ENST00000631023.2:c.693C= ENSP00000486616.1:p.Leu231=
NM_000086.2:c.693C= , LRG_689t1:c.693C= NP_000077.1:p.Leu231=
NM_001042432.1:c.693C= , LRG_689t2:c.693C= NP_001035897.1:p.Leu231=
NM_001286104.1:c.621C= NP_001273033.1:p.Leu207=
NM_001286105.1:c.393C= NP_001273034.1:p.Leu131=
NM_001286109.1:c.459C= NP_001273038.1:p.Leu153=
NM_001286110.1:c.531C= NP_001273039.1:p.Leu177=
NM_001042432.2:c.693C= MANE Select NP_001035897.1:p.Leu231=
NM_001286104.2:c.621C= NP_001273033.1:p.Leu207=
NM_001286105.2:c.393C= NP_001273034.1:p.Leu131=
NM_001286109.2:c.459C= NP_001273038.1:p.Leu153=
NM_001286110.2:c.531C= NP_001273039.1:p.Leu177=