Canonical Allele Identifier: CA16620176

Gene: CLN3

Linked Data

• ClinVar Variation Id: 420007
• ClinVar RCV Id: RCV000480738 ; RCV001729612 ; RCV003532139
• dbSNP Id: rs1064794233
• gnomAD v4: 16-28484012-T-A
• MyVariant Identifiers: chr16:g.28495333T>A (hg19) ; chr16:g.28484012T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484012T>A , CM000678.2:g.28484012T>A	GRCh38
NC_000016.9:g.28495333T>A , CM000678.1:g.28495333T>A	GRCh37
NC_000016.8:g.28402834T>A	NCBI36
NG_008654.2:g.13291A>T , LRG_689:g.13291A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.712A>T	ENSP00000329171.9:p.Lys238Ter
ENST00000355477.10:c.640A>T	ENSP00000347660.7:p.Lys214Ter
ENST00000357857.14:c.622A>T	ENSP00000350523.9:p.Lys208Ter
ENST00000359984.12:c.784A>T	ENSP00000353073.9:p.Lys262Ter
ENST00000360019.8:c.712A>T	ENSP00000353116.3:p.Lys238Ter
ENST00000395653.9:c.325A>T	ENSP00000379014.5:p.Lys109Ter
ENST00000561689.6:n.1069A>T
ENST00000564091.6:c.124A>T	ENSP00000454466.2:p.Lys42Ter
ENST00000565316.6:c.784A>T	ENSP00000456117.1:p.Lys262Ter
ENST00000565778.6:c.415A>T	ENSP00000458015.1:p.Lys139Ter
ENST00000566083.6:n.1242A>T
ENST00000566824.6:n.764A>T
ENST00000567963.6:c.622A>T	ENSP00000455387.2:p.Lys208Ter
ENST00000568076.6:n.911A>T
ENST00000568422.6:c.*21A>T	ENSP00000455549.2:n.*21A>T
ENST00000568452.6:n.887A>T
ENST00000568472.6:n.660A>T
ENST00000568497.6:c.-186A>T	ENSP00000456414.2:n.-186A>T
ENST00000568558.6:c.487A>T	ENSP00000455603.2:p.Lys163Ter
ENST00000569430.7:c.784A>T	ENSP00000454229.1:p.Lys262Ter
ENST00000628023.3:c.*80A>T	ENSP00000486178.1:n.*80A>T
ENST00000635861.1:c.*308A>T	ENSP00000490034.1:n.*308A>T
ENST00000635887.1:c.784A>T	ENSP00000490709.1:p.Lys262Ter
ENST00000635958.1:n.895A>T
ENST00000635973.1:c.535A>T	ENSP00000490363.1:p.Lys179Ter
ENST00000636017.1:c.*308A>T	ENSP00000490538.1:n.*308A>T
ENST00000636078.1:n.826A>T
ENST00000636147.2:c.784A>T MANE Select	ENSP00000490105.1:p.Lys262Ter
ENST00000636172.1:c.*308A>T	ENSP00000490505.1:n.*308A>T
ENST00000636228.1:c.478A>T	ENSP00000489627.1:p.Lys160Ter
ENST00000636351.1:n.504A>T
ENST00000636503.1:c.784A>T	ENSP00000489824.1:p.Lys262Ter
ENST00000636685.1:n.291A>T
ENST00000636766.1:c.784A>T	ENSP00000489841.1:p.Lys262Ter
ENST00000636839.1:n.936A>T
ENST00000636853.1:n.1699A>T
ENST00000636866.1:c.784A>T	ENSP00000490880.1:p.Lys262Ter
ENST00000636907.1:n.935A>T
ENST00000636977.1:n.1852A>T
ENST00000637050.1:n.871A>T
ENST00000637100.1:c.784A>T	ENSP00000490394.1:p.Lys262Ter
ENST00000637107.1:c.*308A>T	ENSP00000490248.1:n.*308A>T
ENST00000637184.1:c.784A>T	ENSP00000489952.1:p.Lys262Ter
ENST00000637299.1:c.*593A>T	ENSP00000489823.1:n.*593A>T
ENST00000637376.1:c.784A>T	ENSP00000490758.1:p.Lys262Ter
ENST00000637578.1:c.*308A>T	ENSP00000490206.1:n.*308A>T
ENST00000637699.1:c.567A>T	ENSP00000490049.1:n.567A>T
ENST00000637745.1:c.123A>T
ENST00000637871.1:c.*308A>T	ENSP00000490670.1:n.*308A>T
ENST00000333496.13:c.712A>T	ENSP00000329171.9:p.Lys238Ter
ENST00000355477.9:c.*21A>T	ENSP00000347660.6:n.*21A>T
ENST00000357806.11:c.487A>T	ENSP00000350457.7:p.Lys163Ter
ENST00000357857.13:c.622A>T	ENSP00000350523.9:p.Lys208Ter
ENST00000359984.11:c.478A>T	ENSP00000353073.8:p.Lys160Ter
ENST00000360019.6:c.784A>T	ENSP00000353116.2:p.Lys262Ter
ENST00000395653.8:c.484A>T	ENSP00000379014.4:p.Lys162Ter
ENST00000561689.5:n.625A>T
ENST00000563874.5:n.2138A>T
ENST00000564574.5:n.832A>T
ENST00000565047.1:n.378A>T
ENST00000565140.5:c.567A>T	ENSP00000455342.1:n.567A>T
ENST00000565316.5:c.784A>T	ENSP00000456117.1:p.Lys262Ter
ENST00000565354.5:n.3A>T
ENST00000565778.5:c.415A>T	ENSP00000458015.1:p.Lys139Ter
ENST00000566057.5:c.398A>T	ENSP00000456693.1:n.398A>T
ENST00000566083.5:n.1015A>T
ENST00000566824.5:n.833A>T
ENST00000567495.5:c.*21A>T	ENSP00000456013.1:n.*21A>T
ENST00000567963.5:c.784A>T	ENSP00000455387.1:p.Lys262Ter
ENST00000568076.5:n.567A>T
ENST00000568224.4:c.550A>T	ENSP00000454253.1:p.Lys184Ter
ENST00000568422.5:c.*21A>T	ENSP00000455549.1:n.*21A>T
ENST00000568452.5:n.784A>T
ENST00000568472.5:n.264A>T
ENST00000568497.5:c.*80A>T	ENSP00000456414.1:n.*80A>T
ENST00000568558.5:c.325A>T	ENSP00000455603.1:p.Lys109Ter
ENST00000569030.5:c.461-1340A>T	ENSP00000454680.1:n.461-1340A>T
ENST00000569430.5:c.784A>T	ENSP00000454229.1:p.Lys262Ter
ENST00000628023.2:c.*80A>T	ENSP00000486178.1:n.*80A>T
ENST00000631023.2:c.784A>T	ENSP00000486616.1:p.Lys262Ter
NM_000086.2:c.784A>T , LRG_689t1:c.784A>T	NP_000077.1:p.Lys262Ter
NM_001042432.1:c.784A>T , LRG_689t2:c.784A>T	NP_001035897.1:p.Lys262Ter
NM_001286104.1:c.712A>T	NP_001273033.1:p.Lys238Ter
NM_001286105.1:c.484A>T	NP_001273034.1:p.Lys162Ter
NM_001286109.1:c.550A>T	NP_001273038.1:p.Lys184Ter
NM_001286110.1:c.622A>T	NP_001273039.1:p.Lys208Ter
NM_001042432.2:c.784A>T MANE Select	NP_001035897.1:p.Lys262Ter
NM_001286104.2:c.712A>T	NP_001273033.1:p.Lys238Ter
NM_001286105.2:c.484A>T	NP_001273034.1:p.Lys162Ter
NM_001286109.2:c.550A>T	NP_001273038.1:p.Lys184Ter
NM_001286110.2:c.622A>T	NP_001273039.1:p.Lys208Ter