Canonical Allele Identifier: CA494268887

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493492G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482171G>A , CM000678.2:g.28482171G>A	GRCh38
NC_000016.9:g.28493492G>A , CM000678.1:g.28493492G>A	GRCh37
NC_000016.8:g.28400993G>A	NCBI36
NG_008654.2:g.15132C>T , LRG_689:g.15132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.918C>T	ENSP00000329171.9:p.Val306=
ENST00000355477.10:c.846C>T	ENSP00000347660.7:p.Val282=
ENST00000357857.14:c.828C>T	ENSP00000350523.9:p.Val276=
ENST00000359984.12:c.990C>T	ENSP00000353073.9:p.Val330=
ENST00000360019.8:c.918C>T	ENSP00000353116.3:p.Val306=
ENST00000395653.9:c.531C>T	ENSP00000379014.5:p.Val177=
ENST00000561689.6:n.1403C>T
ENST00000564091.6:c.330C>T	ENSP00000454466.2:p.Val110=
ENST00000565316.6:c.939C>T	ENSP00000456117.1:p.Val313=
ENST00000566824.6:n.1050C>T
ENST00000567963.6:c.828C>T	ENSP00000455387.2:p.Val276=
ENST00000568076.6:n.1419C>T
ENST00000568422.6:c.*227C>T	ENSP00000455549.2:n.*227C>T
ENST00000568452.6:n.1221C>T
ENST00000568497.6:c.21C>T	ENSP00000456414.2:p.Val7=
ENST00000569430.7:c.990C>T	ENSP00000454229.1:p.Val330=
ENST00000628023.3:c.*286C>T	ENSP00000486178.1:n.*286C>T
ENST00000635861.1:c.*642C>T	ENSP00000490034.1:n.*642C>T
ENST00000635887.1:c.990C>T	ENSP00000490709.1:p.Val330=
ENST00000635958.1:n.1275C>T
ENST00000635973.1:c.741C>T	ENSP00000490363.1:p.Val247=
ENST00000636017.1:c.*514C>T	ENSP00000490538.1:n.*514C>T
ENST00000636078.1:n.1112C>T
ENST00000636147.2:c.990C>T MANE Select	ENSP00000490105.1:p.Val330=
ENST00000636172.1:c.*514C>T	ENSP00000490505.1:n.*514C>T
ENST00000636228.1:c.684C>T	ENSP00000489627.1:p.Val228=
ENST00000636351.1:n.884C>T
ENST00000636503.1:c.990C>T	ENSP00000489824.1:p.Val330=
ENST00000636685.1:n.671C>T
ENST00000636766.1:c.990C>T	ENSP00000489841.1:p.Val330=
ENST00000636839.1:n.1364C>T
ENST00000636853.1:n.1905C>T
ENST00000636866.1:c.990C>T	ENSP00000490880.1:p.Val330=
ENST00000636907.1:n.1141C>T
ENST00000636977.1:n.2360C>T
ENST00000637050.1:n.1379C>T
ENST00000637100.1:c.939C>T	ENSP00000490394.1:p.Val313=
ENST00000637107.1:c.*514C>T	ENSP00000490248.1:n.*514C>T
ENST00000637184.1:c.990C>T	ENSP00000489952.1:p.Val330=
ENST00000637299.1:c.*799C>T	ENSP00000489823.1:n.*799C>T
ENST00000637376.1:c.990C>T	ENSP00000490758.1:p.Val330=
ENST00000637378.1:c.162C>T	ENSP00000490831.1:p.Val54=
ENST00000637578.1:c.*514C>T	ENSP00000490206.1:n.*514C>T
ENST00000637699.1:c.901C>T	ENSP00000490049.1:n.901C>T
ENST00000637745.1:c.329C>T
ENST00000637871.1:c.*688C>T	ENSP00000490670.1:n.*688C>T
ENST00000638036.1:c.152C>T
ENST00000333496.13:c.918C>T	ENSP00000329171.9:p.Val306=
ENST00000355477.9:c.*227C>T	ENSP00000347660.6:n.*227C>T
ENST00000357806.11:c.693C>T	ENSP00000350457.7:p.Val231=
ENST00000357857.13:c.828C>T	ENSP00000350523.9:p.Val276=
ENST00000359984.11:c.684C>T	ENSP00000353073.8:p.Val228=
ENST00000360019.6:c.990C>T	ENSP00000353116.2:p.Val330=
ENST00000395653.8:c.690C>T	ENSP00000379014.4:p.Val230=
ENST00000561689.5:n.959C>T
ENST00000563874.5:n.2518C>T
ENST00000564091.5:c.79C>T
ENST00000565140.5:c.773C>T	ENSP00000455342.1:n.773C>T
ENST00000565316.5:c.939C>T	ENSP00000456117.1:p.Val313=
ENST00000565354.5:n.303C>T
ENST00000566057.5:c.604C>T	ENSP00000456693.1:n.604C>T
ENST00000567963.5:c.906+306C>T	ENSP00000455387.1:n.906+306C>T
ENST00000568076.5:n.901C>T
ENST00000568224.4:c.756C>T	ENSP00000454253.1:p.Val252=
ENST00000568422.5:c.*227C>T	ENSP00000455549.1:n.*227C>T
ENST00000568452.5:n.1118C>T
ENST00000568472.5:n.470C>T
ENST00000568558.5:c.531C>T	ENSP00000455603.1:p.Val177=
ENST00000569030.5:c.660C>T	ENSP00000454680.1:p.Val220=
ENST00000569430.5:c.990C>T	ENSP00000454229.1:p.Val330=
ENST00000628023.2:c.*286C>T	ENSP00000486178.1:n.*286C>T
ENST00000631023.2:c.906+306C>T	ENSP00000486616.1:n.906+306C>T
NM_000086.2:c.990C>T , LRG_689t1:c.990C>T	NP_000077.1:p.Val330=
NM_001042432.1:c.990C>T , LRG_689t2:c.990C>T	NP_001035897.1:p.Val330=
NM_001286104.1:c.918C>T	NP_001273033.1:p.Val306=
NM_001286105.1:c.690C>T	NP_001273034.1:p.Val230=
NM_001286109.1:c.756C>T	NP_001273038.1:p.Val252=
NM_001286110.1:c.828C>T	NP_001273039.1:p.Val276=
NM_001042432.2:c.990C>T MANE Select	NP_001035897.1:p.Val330=
NM_001286104.2:c.918C>T	NP_001273033.1:p.Val306=
NM_001286105.2:c.690C>T	NP_001273034.1:p.Val230=
NM_001286109.2:c.756C>T	NP_001273038.1:p.Val252=
NM_001286110.2:c.828C>T	NP_001273039.1:p.Val276=