Canonical Allele Identifier: CA395344878

Gene: CLN3

Linked Data

• gnomAD v4: 16-28484082-G-T
• MyVariant Identifiers: chr16:g.28495403G>T (hg19) ; chr16:g.28484082G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484082G>T , CM000678.2:g.28484082G>T	GRCh38
NC_000016.9:g.28495403G>T , CM000678.1:g.28495403G>T	GRCh37
NC_000016.8:g.28402904G>T	NCBI36
NG_008654.2:g.13221C>A , LRG_689:g.13221C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.642C>A	ENSP00000329171.9:p.Asp214Glu
ENST00000355477.10:c.570C>A	ENSP00000347660.7:p.Asp190Glu
ENST00000357857.14:c.552C>A	ENSP00000350523.9:p.Asp184Glu
ENST00000359984.12:c.714C>A	ENSP00000353073.9:p.Asp238Glu
ENST00000360019.8:c.642C>A	ENSP00000353116.3:p.Asp214Glu
ENST00000395653.9:c.255C>A	ENSP00000379014.5:p.Asp85Glu
ENST00000561689.6:n.999C>A
ENST00000564091.6:c.54C>A	ENSP00000454466.2:p.Asp18Glu
ENST00000565316.6:c.714C>A	ENSP00000456117.1:p.Asp238Glu
ENST00000565778.6:c.345C>A	ENSP00000458015.1:p.Asp115Glu
ENST00000566083.6:n.1172C>A
ENST00000566824.6:n.694C>A
ENST00000567495.6:c.*173C>A	ENSP00000456013.2:n.*173C>A
ENST00000567963.6:c.552C>A	ENSP00000455387.2:p.Asp184Glu
ENST00000568076.6:n.841C>A
ENST00000568422.6:c.497C>A	ENSP00000455549.2:p.Thr166Asn
ENST00000568452.6:n.817C>A
ENST00000568472.6:n.590C>A
ENST00000568497.6:c.-256C>A	ENSP00000456414.2:n.-256C>A
ENST00000568558.6:c.417C>A	ENSP00000455603.2:p.Asp139Glu
ENST00000569430.7:c.714C>A	ENSP00000454229.1:p.Asp238Glu
ENST00000628023.3:c.*10C>A	ENSP00000486178.1:n.*10C>A
ENST00000635861.1:c.*238C>A	ENSP00000490034.1:n.*238C>A
ENST00000635887.1:c.714C>A	ENSP00000490709.1:p.Asp238Glu
ENST00000635958.1:n.825C>A
ENST00000635973.1:c.465C>A	ENSP00000490363.1:p.Asp155Glu
ENST00000636017.1:c.*238C>A	ENSP00000490538.1:n.*238C>A
ENST00000636078.1:n.756C>A
ENST00000636147.2:c.714C>A MANE Select	ENSP00000490105.1:p.Asp238Glu
ENST00000636172.1:c.*238C>A	ENSP00000490505.1:n.*238C>A
ENST00000636228.1:c.408C>A	ENSP00000489627.1:p.Asp136Glu
ENST00000636351.1:n.434C>A
ENST00000636503.1:c.714C>A	ENSP00000489824.1:p.Asp238Glu
ENST00000636685.1:n.221C>A
ENST00000636766.1:c.714C>A	ENSP00000489841.1:p.Asp238Glu
ENST00000636839.1:n.866C>A
ENST00000636853.1:n.1629C>A
ENST00000636866.1:c.714C>A	ENSP00000490880.1:p.Asp238Glu
ENST00000636907.1:n.865C>A
ENST00000636977.1:n.1782C>A
ENST00000637050.1:n.801C>A
ENST00000637100.1:c.714C>A	ENSP00000490394.1:p.Asp238Glu
ENST00000637107.1:c.*238C>A	ENSP00000490248.1:n.*238C>A
ENST00000637184.1:c.714C>A	ENSP00000489952.1:p.Asp238Glu
ENST00000637299.1:c.*523C>A	ENSP00000489823.1:n.*523C>A
ENST00000637376.1:c.714C>A	ENSP00000490758.1:p.Asp238Glu
ENST00000637578.1:c.*238C>A	ENSP00000490206.1:n.*238C>A
ENST00000637699.1:c.497C>A	ENSP00000490049.1:p.Thr166Asn
ENST00000637745.1:c.53C>A
ENST00000637871.1:c.*238C>A	ENSP00000490670.1:n.*238C>A
ENST00000333496.13:c.642C>A	ENSP00000329171.9:p.Asp214Glu
ENST00000355477.9:c.497C>A	ENSP00000347660.6:p.Thr166Asn
ENST00000357806.11:c.417C>A	ENSP00000350457.7:p.Asp139Glu
ENST00000357857.13:c.552C>A	ENSP00000350523.9:p.Asp184Glu
ENST00000359984.11:c.408C>A	ENSP00000353073.8:p.Asp136Glu
ENST00000360019.6:c.714C>A	ENSP00000353116.2:p.Asp238Glu
ENST00000395653.8:c.414C>A	ENSP00000379014.4:p.Asp138Glu
ENST00000561689.5:n.555C>A
ENST00000563874.5:n.2068C>A
ENST00000564574.5:n.762C>A
ENST00000565047.1:n.308C>A
ENST00000565140.5:c.497C>A	ENSP00000455342.1:p.Thr166Asn
ENST00000565316.5:c.714C>A	ENSP00000456117.1:p.Asp238Glu
ENST00000565688.5:c.465C>A	ENSP00000456122.1:p.Asp155Glu
ENST00000565778.5:c.345C>A	ENSP00000458015.1:p.Asp115Glu
ENST00000566057.5:c.328C>A	ENSP00000456693.1:n.328C>A
ENST00000566083.5:n.945C>A
ENST00000566824.5:n.763C>A
ENST00000567495.5:c.497C>A	ENSP00000456013.1:p.Thr166Asn
ENST00000567963.5:c.714C>A	ENSP00000455387.1:p.Asp238Glu
ENST00000568076.5:n.497C>A
ENST00000568224.4:c.480C>A	ENSP00000454253.1:p.Asp160Glu
ENST00000568422.5:c.350C>A	ENSP00000455549.1:p.Thr117Asn
ENST00000568452.5:n.714C>A
ENST00000568472.5:n.194C>A
ENST00000568497.5:c.*10C>A	ENSP00000456414.1:n.*10C>A
ENST00000568558.5:c.255C>A	ENSP00000455603.1:p.Asp85Glu
ENST00000569030.5:c.461-1410C>A	ENSP00000454680.1:n.461-1410C>A
ENST00000569430.5:c.714C>A	ENSP00000454229.1:p.Asp238Glu
ENST00000628023.2:c.*10C>A	ENSP00000486178.1:n.*10C>A
ENST00000631023.2:c.714C>A	ENSP00000486616.1:p.Asp238Glu
NM_000086.2:c.714C>A , LRG_689t1:c.714C>A	NP_000077.1:p.Asp238Glu
NM_001042432.1:c.714C>A , LRG_689t2:c.714C>A	NP_001035897.1:p.Asp238Glu
NM_001286104.1:c.642C>A	NP_001273033.1:p.Asp214Glu
NM_001286105.1:c.414C>A	NP_001273034.1:p.Asp138Glu
NM_001286109.1:c.480C>A	NP_001273038.1:p.Asp160Glu
NM_001286110.1:c.552C>A	NP_001273039.1:p.Asp184Glu
NM_001042432.2:c.714C>A MANE Select	NP_001035897.1:p.Asp238Glu
NM_001286104.2:c.642C>A	NP_001273033.1:p.Asp214Glu
NM_001286105.2:c.414C>A	NP_001273034.1:p.Asp138Glu
NM_001286109.2:c.480C>A	NP_001273038.1:p.Asp160Glu
NM_001286110.2:c.552C>A	NP_001273039.1:p.Asp184Glu