Canonical Allele Identifier: CA395344859

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28495397T>C (hg19) ; chr16:g.28484076T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484076T>C , CM000678.2:g.28484076T>C	GRCh38
NC_000016.9:g.28495397T>C , CM000678.1:g.28495397T>C	GRCh37
NC_000016.8:g.28402898T>C	NCBI36
NG_008654.2:g.13227A>G , LRG_689:g.13227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.648A>G	ENSP00000329171.9:p.Gly216=
ENST00000355477.10:c.576A>G	ENSP00000347660.7:p.Gly192=
ENST00000357857.14:c.558A>G	ENSP00000350523.9:p.Gly186=
ENST00000359984.12:c.720A>G	ENSP00000353073.9:p.Gly240=
ENST00000360019.8:c.648A>G	ENSP00000353116.3:p.Gly216=
ENST00000395653.9:c.261A>G	ENSP00000379014.5:p.Gly87=
ENST00000561689.6:n.1005A>G
ENST00000564091.6:c.60A>G	ENSP00000454466.2:p.Gly20=
ENST00000565316.6:c.720A>G	ENSP00000456117.1:p.Gly240=
ENST00000565778.6:c.351A>G	ENSP00000458015.1:p.Gly117=
ENST00000566083.6:n.1178A>G
ENST00000566824.6:n.700A>G
ENST00000567495.6:c.*179A>G	ENSP00000456013.2:n.*179A>G
ENST00000567963.6:c.558A>G	ENSP00000455387.2:p.Gly186=
ENST00000568076.6:n.847A>G
ENST00000568422.6:c.503A>G	ENSP00000455549.2:p.Glu168Gly
ENST00000568452.6:n.823A>G
ENST00000568472.6:n.596A>G
ENST00000568497.6:c.-250A>G	ENSP00000456414.2:n.-250A>G
ENST00000568558.6:c.423A>G	ENSP00000455603.2:p.Gly141=
ENST00000569430.7:c.720A>G	ENSP00000454229.1:p.Gly240=
ENST00000628023.3:c.*16A>G	ENSP00000486178.1:n.*16A>G
ENST00000635861.1:c.*244A>G	ENSP00000490034.1:n.*244A>G
ENST00000635887.1:c.720A>G	ENSP00000490709.1:p.Gly240=
ENST00000635958.1:n.831A>G
ENST00000635973.1:c.471A>G	ENSP00000490363.1:p.Gly157=
ENST00000636017.1:c.*244A>G	ENSP00000490538.1:n.*244A>G
ENST00000636078.1:n.762A>G
ENST00000636147.2:c.720A>G MANE Select	ENSP00000490105.1:p.Gly240=
ENST00000636172.1:c.*244A>G	ENSP00000490505.1:n.*244A>G
ENST00000636228.1:c.414A>G	ENSP00000489627.1:p.Gly138=
ENST00000636351.1:n.440A>G
ENST00000636503.1:c.720A>G	ENSP00000489824.1:p.Gly240=
ENST00000636685.1:n.227A>G
ENST00000636766.1:c.720A>G	ENSP00000489841.1:p.Gly240=
ENST00000636839.1:n.872A>G
ENST00000636853.1:n.1635A>G
ENST00000636866.1:c.720A>G	ENSP00000490880.1:p.Gly240=
ENST00000636907.1:n.871A>G
ENST00000636977.1:n.1788A>G
ENST00000637050.1:n.807A>G
ENST00000637100.1:c.720A>G	ENSP00000490394.1:p.Gly240=
ENST00000637107.1:c.*244A>G	ENSP00000490248.1:n.*244A>G
ENST00000637184.1:c.720A>G	ENSP00000489952.1:p.Gly240=
ENST00000637299.1:c.*529A>G	ENSP00000489823.1:n.*529A>G
ENST00000637376.1:c.720A>G	ENSP00000490758.1:p.Gly240=
ENST00000637578.1:c.*244A>G	ENSP00000490206.1:n.*244A>G
ENST00000637699.1:c.503A>G	ENSP00000490049.1:p.Glu168Gly
ENST00000637745.1:c.59A>G
ENST00000637871.1:c.*244A>G	ENSP00000490670.1:n.*244A>G
ENST00000333496.13:c.648A>G	ENSP00000329171.9:p.Gly216=
ENST00000355477.9:c.503A>G	ENSP00000347660.6:p.Glu168Gly
ENST00000357806.11:c.423A>G	ENSP00000350457.7:p.Gly141=
ENST00000357857.13:c.558A>G	ENSP00000350523.9:p.Gly186=
ENST00000359984.11:c.414A>G	ENSP00000353073.8:p.Gly138=
ENST00000360019.6:c.720A>G	ENSP00000353116.2:p.Gly240=
ENST00000395653.8:c.420A>G	ENSP00000379014.4:p.Gly140=
ENST00000561689.5:n.561A>G
ENST00000563874.5:n.2074A>G
ENST00000564574.5:n.768A>G
ENST00000565047.1:n.314A>G
ENST00000565140.5:c.503A>G	ENSP00000455342.1:p.Glu168Gly
ENST00000565316.5:c.720A>G	ENSP00000456117.1:p.Gly240=
ENST00000565688.5:c.471A>G	ENSP00000456122.1:p.Gly157=
ENST00000565778.5:c.351A>G	ENSP00000458015.1:p.Gly117=
ENST00000566057.5:c.334A>G	ENSP00000456693.1:n.334A>G
ENST00000566083.5:n.951A>G
ENST00000566824.5:n.769A>G
ENST00000567495.5:c.503A>G	ENSP00000456013.1:p.Glu168Gly
ENST00000567963.5:c.720A>G	ENSP00000455387.1:p.Gly240=
ENST00000568076.5:n.503A>G
ENST00000568224.4:c.486A>G	ENSP00000454253.1:p.Gly162=
ENST00000568422.5:c.356A>G	ENSP00000455549.1:p.Glu119Gly
ENST00000568452.5:n.720A>G
ENST00000568472.5:n.200A>G
ENST00000568497.5:c.*16A>G	ENSP00000456414.1:n.*16A>G
ENST00000568558.5:c.261A>G	ENSP00000455603.1:p.Gly87=
ENST00000569030.5:c.461-1404A>G	ENSP00000454680.1:n.461-1404A>G
ENST00000569430.5:c.720A>G	ENSP00000454229.1:p.Gly240=
ENST00000628023.2:c.*16A>G	ENSP00000486178.1:n.*16A>G
ENST00000631023.2:c.720A>G	ENSP00000486616.1:p.Gly240=
NM_000086.2:c.720A>G , LRG_689t1:c.720A>G	NP_000077.1:p.Gly240=
NM_001042432.1:c.720A>G , LRG_689t2:c.720A>G	NP_001035897.1:p.Gly240=
NM_001286104.1:c.648A>G	NP_001273033.1:p.Gly216=
NM_001286105.1:c.420A>G	NP_001273034.1:p.Gly140=
NM_001286109.1:c.486A>G	NP_001273038.1:p.Gly162=
NM_001286110.1:c.558A>G	NP_001273039.1:p.Gly186=
NM_001042432.2:c.720A>G MANE Select	NP_001035897.1:p.Gly240=
NM_001286104.2:c.648A>G	NP_001273033.1:p.Gly216=
NM_001286105.2:c.420A>G	NP_001273034.1:p.Gly140=
NM_001286109.2:c.486A>G	NP_001273038.1:p.Gly162=
NM_001286110.2:c.558A>G	NP_001273039.1:p.Gly186=