Canonical Allele Identifier: CA395344183

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493496C>G (hg19) ; chr16:g.28482175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482175C>G , CM000678.2:g.28482175C>G	GRCh38
NC_000016.9:g.28493496C>G , CM000678.1:g.28493496C>G	GRCh37
NC_000016.8:g.28400997C>G	NCBI36
NG_008654.2:g.15128G>C , LRG_689:g.15128G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.914G>C	ENSP00000329171.9:p.Gly305Ala
ENST00000355477.10:c.842G>C	ENSP00000347660.7:p.Gly281Ala
ENST00000357857.14:c.824G>C	ENSP00000350523.9:p.Gly275Ala
ENST00000359984.12:c.986G>C	ENSP00000353073.9:p.Gly329Ala
ENST00000360019.8:c.914G>C	ENSP00000353116.3:p.Gly305Ala
ENST00000395653.9:c.527G>C	ENSP00000379014.5:p.Gly176Ala
ENST00000561689.6:n.1399G>C
ENST00000564091.6:c.326G>C	ENSP00000454466.2:p.Gly109Ala
ENST00000565316.6:c.935G>C	ENSP00000456117.1:p.Gly312Ala
ENST00000566824.6:n.1046G>C
ENST00000567963.6:c.824G>C	ENSP00000455387.2:p.Gly275Ala
ENST00000568076.6:n.1415G>C
ENST00000568422.6:c.*223G>C	ENSP00000455549.2:n.*223G>C
ENST00000568452.6:n.1217G>C
ENST00000568497.6:c.17G>C	ENSP00000456414.2:p.Gly6Ala
ENST00000569430.7:c.986G>C	ENSP00000454229.1:p.Gly329Ala
ENST00000628023.3:c.*282G>C	ENSP00000486178.1:n.*282G>C
ENST00000635861.1:c.*638G>C	ENSP00000490034.1:n.*638G>C
ENST00000635887.1:c.986G>C	ENSP00000490709.1:p.Gly329Ala
ENST00000635958.1:n.1271G>C
ENST00000635973.1:c.737G>C	ENSP00000490363.1:p.Gly246Ala
ENST00000636017.1:c.*510G>C	ENSP00000490538.1:n.*510G>C
ENST00000636078.1:n.1108G>C
ENST00000636147.2:c.986G>C MANE Select	ENSP00000490105.1:p.Gly329Ala
ENST00000636172.1:c.*510G>C	ENSP00000490505.1:n.*510G>C
ENST00000636228.1:c.680G>C	ENSP00000489627.1:p.Gly227Ala
ENST00000636351.1:n.880G>C
ENST00000636503.1:c.986G>C	ENSP00000489824.1:p.Gly329Ala
ENST00000636685.1:n.667G>C
ENST00000636766.1:c.986G>C	ENSP00000489841.1:p.Gly329Ala
ENST00000636839.1:n.1360G>C
ENST00000636853.1:n.1901G>C
ENST00000636866.1:c.986G>C	ENSP00000490880.1:p.Gly329Ala
ENST00000636907.1:n.1137G>C
ENST00000636977.1:n.2356G>C
ENST00000637050.1:n.1375G>C
ENST00000637100.1:c.935G>C	ENSP00000490394.1:p.Gly312Ala
ENST00000637107.1:c.*510G>C	ENSP00000490248.1:n.*510G>C
ENST00000637184.1:c.986G>C	ENSP00000489952.1:p.Gly329Ala
ENST00000637299.1:c.*795G>C	ENSP00000489823.1:n.*795G>C
ENST00000637376.1:c.986G>C	ENSP00000490758.1:p.Gly329Ala
ENST00000637378.1:c.158G>C	ENSP00000490831.1:p.Gly53Ala
ENST00000637578.1:c.*510G>C	ENSP00000490206.1:n.*510G>C
ENST00000637699.1:c.897G>C	ENSP00000490049.1:n.897G>C
ENST00000637745.1:c.325G>C
ENST00000637871.1:c.*684G>C	ENSP00000490670.1:n.*684G>C
ENST00000638036.1:c.148G>C
ENST00000333496.13:c.914G>C	ENSP00000329171.9:p.Gly305Ala
ENST00000355477.9:c.*223G>C	ENSP00000347660.6:n.*223G>C
ENST00000357806.11:c.689G>C	ENSP00000350457.7:p.Gly230Ala
ENST00000357857.13:c.824G>C	ENSP00000350523.9:p.Gly275Ala
ENST00000359984.11:c.680G>C	ENSP00000353073.8:p.Gly227Ala
ENST00000360019.6:c.986G>C	ENSP00000353116.2:p.Gly329Ala
ENST00000395653.8:c.686G>C	ENSP00000379014.4:p.Gly229Ala
ENST00000561689.5:n.955G>C
ENST00000563874.5:n.2514G>C
ENST00000564091.5:c.75G>C
ENST00000565140.5:c.769G>C	ENSP00000455342.1:n.769G>C
ENST00000565316.5:c.935G>C	ENSP00000456117.1:p.Gly312Ala
ENST00000565354.5:n.299G>C
ENST00000566057.5:c.600G>C	ENSP00000456693.1:n.600G>C
ENST00000567963.5:c.906+302G>C	ENSP00000455387.1:n.906+302G>C
ENST00000568076.5:n.897G>C
ENST00000568224.4:c.752G>C	ENSP00000454253.1:p.Gly251Ala
ENST00000568422.5:c.*223G>C	ENSP00000455549.1:n.*223G>C
ENST00000568452.5:n.1114G>C
ENST00000568472.5:n.466G>C
ENST00000568558.5:c.527G>C	ENSP00000455603.1:p.Gly176Ala
ENST00000569030.5:c.656G>C	ENSP00000454680.1:p.Gly219Ala
ENST00000569430.5:c.986G>C	ENSP00000454229.1:p.Gly329Ala
ENST00000628023.2:c.*282G>C	ENSP00000486178.1:n.*282G>C
ENST00000631023.2:c.906+302G>C	ENSP00000486616.1:n.906+302G>C
NM_000086.2:c.986G>C , LRG_689t1:c.986G>C	NP_000077.1:p.Gly329Ala
NM_001042432.1:c.986G>C , LRG_689t2:c.986G>C	NP_001035897.1:p.Gly329Ala
NM_001286104.1:c.914G>C	NP_001273033.1:p.Gly305Ala
NM_001286105.1:c.686G>C	NP_001273034.1:p.Gly229Ala
NM_001286109.1:c.752G>C	NP_001273038.1:p.Gly251Ala
NM_001286110.1:c.824G>C	NP_001273039.1:p.Gly275Ala
NM_001042432.2:c.986G>C MANE Select	NP_001035897.1:p.Gly329Ala
NM_001286104.2:c.914G>C	NP_001273033.1:p.Gly305Ala
NM_001286105.2:c.686G>C	NP_001273034.1:p.Gly229Ala
NM_001286109.2:c.752G>C	NP_001273038.1:p.Gly251Ala
NM_001286110.2:c.824G>C	NP_001273039.1:p.Gly275Ala