Canonical Allele Identifier: CA395344207

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493506A>C (hg19) ; chr16:g.28482185A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482185A>C , CM000678.2:g.28482185A>C	GRCh38
NC_000016.9:g.28493506A>C , CM000678.1:g.28493506A>C	GRCh37
NC_000016.8:g.28401007A>C	NCBI36
NG_008654.2:g.15118T>G , LRG_689:g.15118T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.904T>G	ENSP00000329171.9:p.Tyr302Asp
ENST00000355477.10:c.832T>G	ENSP00000347660.7:p.Tyr278Asp
ENST00000357857.14:c.814T>G	ENSP00000350523.9:p.Tyr272Asp
ENST00000359984.12:c.976T>G	ENSP00000353073.9:p.Tyr326Asp
ENST00000360019.8:c.904T>G	ENSP00000353116.3:p.Tyr302Asp
ENST00000395653.9:c.517T>G	ENSP00000379014.5:p.Tyr173Asp
ENST00000561689.6:n.1389T>G
ENST00000564091.6:c.316T>G	ENSP00000454466.2:p.Tyr106Asp
ENST00000565316.6:c.925T>G	ENSP00000456117.1:p.Tyr309Asp
ENST00000566824.6:n.1036T>G
ENST00000567963.6:c.814T>G	ENSP00000455387.2:p.Tyr272Asp
ENST00000568076.6:n.1405T>G
ENST00000568422.6:c.*213T>G	ENSP00000455549.2:n.*213T>G
ENST00000568452.6:n.1207T>G
ENST00000568497.6:c.7T>G	ENSP00000456414.2:p.Tyr3Asp
ENST00000569430.7:c.976T>G	ENSP00000454229.1:p.Tyr326Asp
ENST00000628023.3:c.*272T>G	ENSP00000486178.1:n.*272T>G
ENST00000635861.1:c.*628T>G	ENSP00000490034.1:n.*628T>G
ENST00000635887.1:c.976T>G	ENSP00000490709.1:p.Tyr326Asp
ENST00000635958.1:n.1261T>G
ENST00000635973.1:c.727T>G	ENSP00000490363.1:p.Tyr243Asp
ENST00000636017.1:c.*500T>G	ENSP00000490538.1:n.*500T>G
ENST00000636078.1:n.1098T>G
ENST00000636147.2:c.976T>G MANE Select	ENSP00000490105.1:p.Tyr326Asp
ENST00000636172.1:c.*500T>G	ENSP00000490505.1:n.*500T>G
ENST00000636228.1:c.670T>G	ENSP00000489627.1:p.Tyr224Asp
ENST00000636351.1:n.870T>G
ENST00000636503.1:c.976T>G	ENSP00000489824.1:p.Tyr326Asp
ENST00000636685.1:n.657T>G
ENST00000636766.1:c.976T>G	ENSP00000489841.1:p.Tyr326Asp
ENST00000636839.1:n.1350T>G
ENST00000636853.1:n.1891T>G
ENST00000636866.1:c.976T>G	ENSP00000490880.1:p.Tyr326Asp
ENST00000636907.1:n.1127T>G
ENST00000636977.1:n.2346T>G
ENST00000637050.1:n.1365T>G
ENST00000637100.1:c.925T>G	ENSP00000490394.1:p.Tyr309Asp
ENST00000637107.1:c.*500T>G	ENSP00000490248.1:n.*500T>G
ENST00000637184.1:c.976T>G	ENSP00000489952.1:p.Tyr326Asp
ENST00000637299.1:c.*785T>G	ENSP00000489823.1:n.*785T>G
ENST00000637376.1:c.976T>G	ENSP00000490758.1:p.Tyr326Asp
ENST00000637378.1:c.148T>G	ENSP00000490831.1:p.Tyr50Asp
ENST00000637578.1:c.*500T>G	ENSP00000490206.1:n.*500T>G
ENST00000637699.1:c.887T>G	ENSP00000490049.1:n.887T>G
ENST00000637745.1:c.315T>G
ENST00000637871.1:c.*674T>G	ENSP00000490670.1:n.*674T>G
ENST00000638036.1:c.138T>G
ENST00000333496.13:c.904T>G	ENSP00000329171.9:p.Tyr302Asp
ENST00000355477.9:c.*213T>G	ENSP00000347660.6:n.*213T>G
ENST00000357806.11:c.679T>G	ENSP00000350457.7:p.Tyr227Asp
ENST00000357857.13:c.814T>G	ENSP00000350523.9:p.Tyr272Asp
ENST00000359984.11:c.670T>G	ENSP00000353073.8:p.Tyr224Asp
ENST00000360019.6:c.976T>G	ENSP00000353116.2:p.Tyr326Asp
ENST00000395653.8:c.676T>G	ENSP00000379014.4:p.Tyr226Asp
ENST00000561689.5:n.945T>G
ENST00000563874.5:n.2504T>G
ENST00000564091.5:c.65T>G
ENST00000564574.5:n.1152T>G
ENST00000565140.5:c.759T>G	ENSP00000455342.1:n.759T>G
ENST00000565316.5:c.925T>G	ENSP00000456117.1:p.Tyr309Asp
ENST00000565354.5:n.289T>G
ENST00000566057.5:c.590T>G	ENSP00000456693.1:n.590T>G
ENST00000567963.5:c.906+292T>G	ENSP00000455387.1:n.906+292T>G
ENST00000568076.5:n.887T>G
ENST00000568224.4:c.742T>G	ENSP00000454253.1:p.Tyr248Asp
ENST00000568422.5:c.*213T>G	ENSP00000455549.1:n.*213T>G
ENST00000568452.5:n.1104T>G
ENST00000568472.5:n.456T>G
ENST00000568558.5:c.517T>G	ENSP00000455603.1:p.Tyr173Asp
ENST00000569030.5:c.646T>G	ENSP00000454680.1:p.Tyr216Asp
ENST00000569430.5:c.976T>G	ENSP00000454229.1:p.Tyr326Asp
ENST00000628023.2:c.*272T>G	ENSP00000486178.1:n.*272T>G
ENST00000631023.2:c.906+292T>G	ENSP00000486616.1:n.906+292T>G
NM_000086.2:c.976T>G , LRG_689t1:c.976T>G	NP_000077.1:p.Tyr326Asp
NM_001042432.1:c.976T>G , LRG_689t2:c.976T>G	NP_001035897.1:p.Tyr326Asp
NM_001286104.1:c.904T>G	NP_001273033.1:p.Tyr302Asp
NM_001286105.1:c.676T>G	NP_001273034.1:p.Tyr226Asp
NM_001286109.1:c.742T>G	NP_001273038.1:p.Tyr248Asp
NM_001286110.1:c.814T>G	NP_001273039.1:p.Tyr272Asp
NM_001042432.2:c.976T>G MANE Select	NP_001035897.1:p.Tyr326Asp
NM_001286104.2:c.904T>G	NP_001273033.1:p.Tyr302Asp
NM_001286105.2:c.676T>G	NP_001273034.1:p.Tyr226Asp
NM_001286109.2:c.742T>G	NP_001273038.1:p.Tyr248Asp
NM_001286110.2:c.814T>G	NP_001273039.1:p.Tyr272Asp