Canonical Allele Identifier: CA395344202

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493504G>C (hg19) ; chr16:g.28482183G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482183G>C , CM000678.2:g.28482183G>C	GRCh38
NC_000016.9:g.28493504G>C , CM000678.1:g.28493504G>C	GRCh37
NC_000016.8:g.28401005G>C	NCBI36
NG_008654.2:g.15120C>G , LRG_689:g.15120C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.906C>G	ENSP00000329171.9:p.Tyr302Ter
ENST00000355477.10:c.834C>G	ENSP00000347660.7:p.Tyr278Ter
ENST00000357857.14:c.816C>G	ENSP00000350523.9:p.Tyr272Ter
ENST00000359984.12:c.978C>G	ENSP00000353073.9:p.Tyr326Ter
ENST00000360019.8:c.906C>G	ENSP00000353116.3:p.Tyr302Ter
ENST00000395653.9:c.519C>G	ENSP00000379014.5:p.Tyr173Ter
ENST00000561689.6:n.1391C>G
ENST00000564091.6:c.318C>G	ENSP00000454466.2:p.Tyr106Ter
ENST00000565316.6:c.927C>G	ENSP00000456117.1:p.Tyr309Ter
ENST00000566824.6:n.1038C>G
ENST00000567963.6:c.816C>G	ENSP00000455387.2:p.Tyr272Ter
ENST00000568076.6:n.1407C>G
ENST00000568422.6:c.*215C>G	ENSP00000455549.2:n.*215C>G
ENST00000568452.6:n.1209C>G
ENST00000568497.6:c.9C>G	ENSP00000456414.2:p.Tyr3Ter
ENST00000569430.7:c.978C>G	ENSP00000454229.1:p.Tyr326Ter
ENST00000628023.3:c.*274C>G	ENSP00000486178.1:n.*274C>G
ENST00000635861.1:c.*630C>G	ENSP00000490034.1:n.*630C>G
ENST00000635887.1:c.978C>G	ENSP00000490709.1:p.Tyr326Ter
ENST00000635958.1:n.1263C>G
ENST00000635973.1:c.729C>G	ENSP00000490363.1:p.Tyr243Ter
ENST00000636017.1:c.*502C>G	ENSP00000490538.1:n.*502C>G
ENST00000636078.1:n.1100C>G
ENST00000636147.2:c.978C>G MANE Select	ENSP00000490105.1:p.Tyr326Ter
ENST00000636172.1:c.*502C>G	ENSP00000490505.1:n.*502C>G
ENST00000636228.1:c.672C>G	ENSP00000489627.1:p.Tyr224Ter
ENST00000636351.1:n.872C>G
ENST00000636503.1:c.978C>G	ENSP00000489824.1:p.Tyr326Ter
ENST00000636685.1:n.659C>G
ENST00000636766.1:c.978C>G	ENSP00000489841.1:p.Tyr326Ter
ENST00000636839.1:n.1352C>G
ENST00000636853.1:n.1893C>G
ENST00000636866.1:c.978C>G	ENSP00000490880.1:p.Tyr326Ter
ENST00000636907.1:n.1129C>G
ENST00000636977.1:n.2348C>G
ENST00000637050.1:n.1367C>G
ENST00000637100.1:c.927C>G	ENSP00000490394.1:p.Tyr309Ter
ENST00000637107.1:c.*502C>G	ENSP00000490248.1:n.*502C>G
ENST00000637184.1:c.978C>G	ENSP00000489952.1:p.Tyr326Ter
ENST00000637299.1:c.*787C>G	ENSP00000489823.1:n.*787C>G
ENST00000637376.1:c.978C>G	ENSP00000490758.1:p.Tyr326Ter
ENST00000637378.1:c.150C>G	ENSP00000490831.1:p.Tyr50Ter
ENST00000637578.1:c.*502C>G	ENSP00000490206.1:n.*502C>G
ENST00000637699.1:c.889C>G	ENSP00000490049.1:n.889C>G
ENST00000637745.1:c.317C>G
ENST00000637871.1:c.*676C>G	ENSP00000490670.1:n.*676C>G
ENST00000638036.1:c.140C>G
ENST00000333496.13:c.906C>G	ENSP00000329171.9:p.Tyr302Ter
ENST00000355477.9:c.*215C>G	ENSP00000347660.6:n.*215C>G
ENST00000357806.11:c.681C>G	ENSP00000350457.7:p.Tyr227Ter
ENST00000357857.13:c.816C>G	ENSP00000350523.9:p.Tyr272Ter
ENST00000359984.11:c.672C>G	ENSP00000353073.8:p.Tyr224Ter
ENST00000360019.6:c.978C>G	ENSP00000353116.2:p.Tyr326Ter
ENST00000395653.8:c.678C>G	ENSP00000379014.4:p.Tyr226Ter
ENST00000561689.5:n.947C>G
ENST00000563874.5:n.2506C>G
ENST00000564091.5:c.67C>G
ENST00000564574.5:n.1154C>G
ENST00000565140.5:c.761C>G	ENSP00000455342.1:n.761C>G
ENST00000565316.5:c.927C>G	ENSP00000456117.1:p.Tyr309Ter
ENST00000565354.5:n.291C>G
ENST00000566057.5:c.592C>G	ENSP00000456693.1:n.592C>G
ENST00000567963.5:c.906+294C>G	ENSP00000455387.1:n.906+294C>G
ENST00000568076.5:n.889C>G
ENST00000568224.4:c.744C>G	ENSP00000454253.1:p.Tyr248Ter
ENST00000568422.5:c.*215C>G	ENSP00000455549.1:n.*215C>G
ENST00000568452.5:n.1106C>G
ENST00000568472.5:n.458C>G
ENST00000568558.5:c.519C>G	ENSP00000455603.1:p.Tyr173Ter
ENST00000569030.5:c.648C>G	ENSP00000454680.1:p.Tyr216Ter
ENST00000569430.5:c.978C>G	ENSP00000454229.1:p.Tyr326Ter
ENST00000628023.2:c.*274C>G	ENSP00000486178.1:n.*274C>G
ENST00000631023.2:c.906+294C>G	ENSP00000486616.1:n.906+294C>G
NM_000086.2:c.978C>G , LRG_689t1:c.978C>G	NP_000077.1:p.Tyr326Ter
NM_001042432.1:c.978C>G , LRG_689t2:c.978C>G	NP_001035897.1:p.Tyr326Ter
NM_001286104.1:c.906C>G	NP_001273033.1:p.Tyr302Ter
NM_001286105.1:c.678C>G	NP_001273034.1:p.Tyr226Ter
NM_001286109.1:c.744C>G	NP_001273038.1:p.Tyr248Ter
NM_001286110.1:c.816C>G	NP_001273039.1:p.Tyr272Ter
NM_001042432.2:c.978C>G MANE Select	NP_001035897.1:p.Tyr326Ter
NM_001286104.2:c.906C>G	NP_001273033.1:p.Tyr302Ter
NM_001286105.2:c.678C>G	NP_001273034.1:p.Tyr226Ter
NM_001286109.2:c.744C>G	NP_001273038.1:p.Tyr248Ter
NM_001286110.2:c.816C>G	NP_001273039.1:p.Tyr272Ter