Canonical Allele Identifier: CA395344231

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493516G>T (hg19) ; chr16:g.28482195G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482195G>T , CM000678.2:g.28482195G>T	GRCh38
NC_000016.9:g.28493516G>T , CM000678.1:g.28493516G>T	GRCh37
NC_000016.8:g.28401017G>T	NCBI36
NG_008654.2:g.15108C>A , LRG_689:g.15108C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.894C>A	ENSP00000329171.9:p.Tyr298Ter
ENST00000355477.10:c.822C>A	ENSP00000347660.7:p.Tyr274Ter
ENST00000357857.14:c.804C>A	ENSP00000350523.9:p.Tyr268Ter
ENST00000359984.12:c.966C>A	ENSP00000353073.9:p.Tyr322Ter
ENST00000360019.8:c.894C>A	ENSP00000353116.3:p.Tyr298Ter
ENST00000395653.9:c.507C>A	ENSP00000379014.5:p.Tyr169Ter
ENST00000561689.6:n.1379C>A
ENST00000564091.6:c.306C>A	ENSP00000454466.2:p.Tyr102Ter
ENST00000565316.6:c.915C>A	ENSP00000456117.1:p.Tyr305Ter
ENST00000566824.6:n.1026C>A
ENST00000567963.6:c.804C>A	ENSP00000455387.2:p.Tyr268Ter
ENST00000568076.6:n.1395C>A
ENST00000568422.6:c.*203C>A	ENSP00000455549.2:n.*203C>A
ENST00000568452.6:n.1197C>A
ENST00000568497.6:c.-4C>A	ENSP00000456414.2:n.-4C>A
ENST00000569430.7:c.966C>A	ENSP00000454229.1:p.Tyr322Ter
ENST00000628023.3:c.*262C>A	ENSP00000486178.1:n.*262C>A
ENST00000635861.1:c.*618C>A	ENSP00000490034.1:n.*618C>A
ENST00000635887.1:c.966C>A	ENSP00000490709.1:p.Tyr322Ter
ENST00000635958.1:n.1251C>A
ENST00000635973.1:c.717C>A	ENSP00000490363.1:p.Tyr239Ter
ENST00000636017.1:c.*490C>A	ENSP00000490538.1:n.*490C>A
ENST00000636078.1:n.1088C>A
ENST00000636147.2:c.966C>A MANE Select	ENSP00000490105.1:p.Tyr322Ter
ENST00000636172.1:c.*490C>A	ENSP00000490505.1:n.*490C>A
ENST00000636228.1:c.660C>A	ENSP00000489627.1:p.Tyr220Ter
ENST00000636351.1:n.860C>A
ENST00000636503.1:c.966C>A	ENSP00000489824.1:p.Tyr322Ter
ENST00000636685.1:n.647C>A
ENST00000636766.1:c.966C>A	ENSP00000489841.1:p.Tyr322Ter
ENST00000636839.1:n.1340C>A
ENST00000636853.1:n.1881C>A
ENST00000636866.1:c.966C>A	ENSP00000490880.1:p.Tyr322Ter
ENST00000636907.1:n.1117C>A
ENST00000636977.1:n.2336C>A
ENST00000637050.1:n.1355C>A
ENST00000637100.1:c.915C>A	ENSP00000490394.1:p.Tyr305Ter
ENST00000637107.1:c.*490C>A	ENSP00000490248.1:n.*490C>A
ENST00000637184.1:c.966C>A	ENSP00000489952.1:p.Tyr322Ter
ENST00000637299.1:c.*775C>A	ENSP00000489823.1:n.*775C>A
ENST00000637376.1:c.966C>A	ENSP00000490758.1:p.Tyr322Ter
ENST00000637378.1:c.138C>A	ENSP00000490831.1:p.Tyr46Ter
ENST00000637578.1:c.*490C>A	ENSP00000490206.1:n.*490C>A
ENST00000637699.1:c.877C>A	ENSP00000490049.1:n.877C>A
ENST00000637745.1:c.305C>A
ENST00000637871.1:c.*664C>A	ENSP00000490670.1:n.*664C>A
ENST00000638036.1:c.128C>A
ENST00000333496.13:c.894C>A	ENSP00000329171.9:p.Tyr298Ter
ENST00000355477.9:c.*203C>A	ENSP00000347660.6:n.*203C>A
ENST00000357806.11:c.669C>A	ENSP00000350457.7:p.Tyr223Ter
ENST00000357857.13:c.804C>A	ENSP00000350523.9:p.Tyr268Ter
ENST00000359984.11:c.660C>A	ENSP00000353073.8:p.Tyr220Ter
ENST00000360019.6:c.966C>A	ENSP00000353116.2:p.Tyr322Ter
ENST00000395653.8:c.666C>A	ENSP00000379014.4:p.Tyr222Ter
ENST00000561689.5:n.935C>A
ENST00000563874.5:n.2494C>A
ENST00000564091.5:c.55C>A
ENST00000564574.5:n.1142C>A
ENST00000565140.5:c.749C>A	ENSP00000455342.1:n.749C>A
ENST00000565316.5:c.915C>A	ENSP00000456117.1:p.Tyr305Ter
ENST00000565354.5:n.279C>A
ENST00000566057.5:c.580C>A	ENSP00000456693.1:n.580C>A
ENST00000567963.5:c.906+282C>A	ENSP00000455387.1:n.906+282C>A
ENST00000568076.5:n.877C>A
ENST00000568224.4:c.732C>A	ENSP00000454253.1:p.Tyr244Ter
ENST00000568422.5:c.*203C>A	ENSP00000455549.1:n.*203C>A
ENST00000568452.5:n.1094C>A
ENST00000568472.5:n.446C>A
ENST00000568558.5:c.507C>A	ENSP00000455603.1:p.Tyr169Ter
ENST00000569030.5:c.636C>A	ENSP00000454680.1:p.Tyr212Ter
ENST00000569430.5:c.966C>A	ENSP00000454229.1:p.Tyr322Ter
ENST00000628023.2:c.*262C>A	ENSP00000486178.1:n.*262C>A
ENST00000631023.2:c.906+282C>A	ENSP00000486616.1:n.906+282C>A
NM_000086.2:c.966C>A , LRG_689t1:c.966C>A	NP_000077.1:p.Tyr322Ter
NM_001042432.1:c.966C>A , LRG_689t2:c.966C>A	NP_001035897.1:p.Tyr322Ter
NM_001286104.1:c.894C>A	NP_001273033.1:p.Tyr298Ter
NM_001286105.1:c.666C>A	NP_001273034.1:p.Tyr222Ter
NM_001286109.1:c.732C>A	NP_001273038.1:p.Tyr244Ter
NM_001286110.1:c.804C>A	NP_001273039.1:p.Tyr268Ter
NM_001042432.2:c.966C>A MANE Select	NP_001035897.1:p.Tyr322Ter
NM_001286104.2:c.894C>A	NP_001273033.1:p.Tyr298Ter
NM_001286105.2:c.666C>A	NP_001273034.1:p.Tyr222Ter
NM_001286109.2:c.732C>A	NP_001273038.1:p.Tyr244Ter
NM_001286110.2:c.804C>A	NP_001273039.1:p.Tyr268Ter