Canonical Allele Identifier: CA395343945

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493437C>A (hg19) ; chr16:g.28482116C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482116C>A , CM000678.2:g.28482116C>A	GRCh38
NC_000016.9:g.28493437C>A , CM000678.1:g.28493437C>A	GRCh37
NC_000016.8:g.28400938C>A	NCBI36
NG_008654.2:g.15187G>T , LRG_689:g.15187G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.973G>T	ENSP00000329171.9:p.Ala325Ser
ENST00000355477.10:c.901G>T	ENSP00000347660.7:p.Ala301Ser
ENST00000357857.14:c.883G>T	ENSP00000350523.9:p.Ala295Ser
ENST00000359984.12:c.1045G>T	ENSP00000353073.9:p.Ala349Ser
ENST00000360019.8:c.973G>T	ENSP00000353116.3:p.Ala325Ser
ENST00000395653.9:c.586G>T	ENSP00000379014.5:p.Ala196Ser
ENST00000561689.6:n.1458G>T
ENST00000564091.6:c.385G>T	ENSP00000454466.2:p.Ala129Ser
ENST00000565316.6:c.994G>T	ENSP00000456117.1:p.Ala332Ser
ENST00000566824.6:n.1105G>T
ENST00000567963.6:c.883G>T	ENSP00000455387.2:p.Ala295Ser
ENST00000568076.6:n.1474G>T
ENST00000568422.6:c.*282G>T	ENSP00000455549.2:n.*282G>T
ENST00000568452.6:n.1276G>T
ENST00000568497.6:c.76G>T	ENSP00000456414.2:p.Ala26Ser
ENST00000569430.7:c.1045G>T	ENSP00000454229.1:p.Ala349Ser
ENST00000628023.3:c.*341G>T	ENSP00000486178.1:n.*341G>T
ENST00000635861.1:c.*697G>T	ENSP00000490034.1:n.*697G>T
ENST00000635887.1:c.1045G>T	ENSP00000490709.1:p.Ala349Ser
ENST00000635958.1:n.1330G>T
ENST00000635973.1:c.796G>T	ENSP00000490363.1:p.Ala266Ser
ENST00000636017.1:c.*569G>T	ENSP00000490538.1:n.*569G>T
ENST00000636078.1:n.1167G>T
ENST00000636147.2:c.1045G>T MANE Select	ENSP00000490105.1:p.Ala349Ser
ENST00000636172.1:c.*569G>T	ENSP00000490505.1:n.*569G>T
ENST00000636228.1:c.739G>T	ENSP00000489627.1:p.Ala247Ser
ENST00000636351.1:n.939G>T
ENST00000636503.1:c.1045G>T	ENSP00000489824.1:p.Ala349Ser
ENST00000636685.1:n.726G>T
ENST00000636766.1:c.1045G>T	ENSP00000489841.1:p.Ala349Ser
ENST00000636839.1:n.1419G>T
ENST00000636853.1:n.1960G>T
ENST00000636866.1:c.1045G>T	ENSP00000490880.1:p.Ala349Ser
ENST00000636907.1:n.1196G>T
ENST00000636977.1:n.2415G>T
ENST00000637050.1:n.1434G>T
ENST00000637100.1:c.994G>T	ENSP00000490394.1:p.Ala332Ser
ENST00000637107.1:c.*569G>T	ENSP00000490248.1:n.*569G>T
ENST00000637184.1:c.1045G>T	ENSP00000489952.1:p.Ala349Ser
ENST00000637299.1:c.*854G>T	ENSP00000489823.1:n.*854G>T
ENST00000637376.1:c.1045G>T	ENSP00000490758.1:p.Ala349Ser
ENST00000637378.1:c.217G>T	ENSP00000490831.1:p.Ala73Ser
ENST00000637578.1:c.*569G>T	ENSP00000490206.1:n.*569G>T
ENST00000637699.1:c.956G>T	ENSP00000490049.1:n.956G>T
ENST00000637745.1:c.384G>T
ENST00000637871.1:c.*743G>T	ENSP00000490670.1:n.*743G>T
ENST00000638036.1:c.207G>T
ENST00000333496.13:c.973G>T	ENSP00000329171.9:p.Ala325Ser
ENST00000355477.9:c.*282G>T	ENSP00000347660.6:n.*282G>T
ENST00000357806.11:c.748G>T	ENSP00000350457.7:p.Ala250Ser
ENST00000357857.13:c.883G>T	ENSP00000350523.9:p.Ala295Ser
ENST00000359984.11:c.739G>T	ENSP00000353073.8:p.Ala247Ser
ENST00000360019.6:c.1045G>T	ENSP00000353116.2:p.Ala349Ser
ENST00000395653.8:c.745G>T	ENSP00000379014.4:p.Ala249Ser
ENST00000561689.5:n.1014G>T
ENST00000563874.5:n.2573G>T
ENST00000564091.5:c.134G>T
ENST00000565140.5:c.828G>T	ENSP00000455342.1:n.828G>T
ENST00000565316.5:c.994G>T	ENSP00000456117.1:p.Ala332Ser
ENST00000565354.5:n.358G>T
ENST00000566057.5:c.659G>T	ENSP00000456693.1:n.659G>T
ENST00000567963.5:c.906+361G>T	ENSP00000455387.1:n.906+361G>T
ENST00000568076.5:n.956G>T
ENST00000568224.4:c.811G>T	ENSP00000454253.1:p.Ala271Ser
ENST00000568422.5:c.*282G>T	ENSP00000455549.1:n.*282G>T
ENST00000568452.5:n.1173G>T
ENST00000569030.5:c.715G>T	ENSP00000454680.1:p.Ala239Ser
ENST00000569430.5:c.1045G>T	ENSP00000454229.1:p.Ala349Ser
ENST00000628023.2:c.*341G>T	ENSP00000486178.1:n.*341G>T
ENST00000631023.2:c.906+361G>T	ENSP00000486616.1:n.906+361G>T
NM_000086.2:c.1045G>T , LRG_689t1:c.1045G>T	NP_000077.1:p.Ala349Ser
NM_001042432.1:c.1045G>T , LRG_689t2:c.1045G>T	NP_001035897.1:p.Ala349Ser
NM_001286104.1:c.973G>T	NP_001273033.1:p.Ala325Ser
NM_001286105.1:c.745G>T	NP_001273034.1:p.Ala249Ser
NM_001286109.1:c.811G>T	NP_001273038.1:p.Ala271Ser
NM_001286110.1:c.883G>T	NP_001273039.1:p.Ala295Ser
NM_001042432.2:c.1045G>T MANE Select	NP_001035897.1:p.Ala349Ser
NM_001286104.2:c.973G>T	NP_001273033.1:p.Ala325Ser
NM_001286105.2:c.745G>T	NP_001273034.1:p.Ala249Ser
NM_001286109.2:c.811G>T	NP_001273038.1:p.Ala271Ser
NM_001286110.2:c.883G>T	NP_001273039.1:p.Ala295Ser