Canonical Allele Identifier: CA395344728

Gene: CLN3

Linked Data

• ClinVar Variation Id: 497479
• ClinVar RCV Id: RCV000592612 ; RCV001027942 ; RCV001069649
• dbSNP Id: rs73533466
• gnomAD v4: 16-28484025-C-G
• MyVariant Identifiers: chr16:g.28495346C>G (hg19) ; chr16:g.28484025C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484025C>G , CM000678.2:g.28484025C>G	GRCh38
NC_000016.9:g.28495346C>G , CM000678.1:g.28495346C>G	GRCh37
NC_000016.8:g.28402847C>G	NCBI36
NG_008654.2:g.13278G>C , LRG_689:g.13278G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.699G>C	ENSP00000329171.9:p.Glu233Asp
ENST00000355477.10:c.627G>C	ENSP00000347660.7:p.Glu209Asp
ENST00000357857.14:c.609G>C	ENSP00000350523.9:p.Glu203Asp
ENST00000359984.12:c.771G>C	ENSP00000353073.9:p.Glu257Asp
ENST00000360019.8:c.699G>C	ENSP00000353116.3:p.Glu233Asp
ENST00000395653.9:c.312G>C	ENSP00000379014.5:p.Glu104Asp
ENST00000561689.6:n.1056G>C
ENST00000564091.6:c.111G>C	ENSP00000454466.2:p.Glu37Asp
ENST00000565316.6:c.771G>C	ENSP00000456117.1:p.Glu257Asp
ENST00000565778.6:c.402G>C	ENSP00000458015.1:p.Glu134Asp
ENST00000566083.6:n.1229G>C
ENST00000566824.6:n.751G>C
ENST00000567963.6:c.609G>C	ENSP00000455387.2:p.Glu203Asp
ENST00000568076.6:n.898G>C
ENST00000568422.6:c.*8G>C	ENSP00000455549.2:n.*8G>C
ENST00000568452.6:n.874G>C
ENST00000568472.6:n.647G>C
ENST00000568497.6:c.-199G>C	ENSP00000456414.2:n.-199G>C
ENST00000568558.6:c.474G>C	ENSP00000455603.2:p.Glu158Asp
ENST00000569430.7:c.771G>C	ENSP00000454229.1:p.Glu257Asp
ENST00000628023.3:c.*67G>C	ENSP00000486178.1:n.*67G>C
ENST00000635861.1:c.*295G>C	ENSP00000490034.1:n.*295G>C
ENST00000635887.1:c.771G>C	ENSP00000490709.1:p.Glu257Asp
ENST00000635958.1:n.882G>C
ENST00000635973.1:c.522G>C	ENSP00000490363.1:p.Glu174Asp
ENST00000636017.1:c.*295G>C	ENSP00000490538.1:n.*295G>C
ENST00000636078.1:n.813G>C
ENST00000636147.2:c.771G>C MANE Select	ENSP00000490105.1:p.Glu257Asp
ENST00000636172.1:c.*295G>C	ENSP00000490505.1:n.*295G>C
ENST00000636228.1:c.465G>C	ENSP00000489627.1:p.Glu155Asp
ENST00000636351.1:n.491G>C
ENST00000636503.1:c.771G>C	ENSP00000489824.1:p.Glu257Asp
ENST00000636685.1:n.278G>C
ENST00000636766.1:c.771G>C	ENSP00000489841.1:p.Glu257Asp
ENST00000636839.1:n.923G>C
ENST00000636853.1:n.1686G>C
ENST00000636866.1:c.771G>C	ENSP00000490880.1:p.Glu257Asp
ENST00000636907.1:n.922G>C
ENST00000636977.1:n.1839G>C
ENST00000637050.1:n.858G>C
ENST00000637100.1:c.771G>C	ENSP00000490394.1:p.Glu257Asp
ENST00000637107.1:c.*295G>C	ENSP00000490248.1:n.*295G>C
ENST00000637184.1:c.771G>C	ENSP00000489952.1:p.Glu257Asp
ENST00000637299.1:c.*580G>C	ENSP00000489823.1:n.*580G>C
ENST00000637376.1:c.771G>C	ENSP00000490758.1:p.Glu257Asp
ENST00000637578.1:c.*295G>C	ENSP00000490206.1:n.*295G>C
ENST00000637699.1:c.554G>C	ENSP00000490049.1:n.554G>C
ENST00000637745.1:c.110G>C
ENST00000637871.1:c.*295G>C	ENSP00000490670.1:n.*295G>C
ENST00000333496.13:c.699G>C	ENSP00000329171.9:p.Glu233Asp
ENST00000355477.9:c.*8G>C	ENSP00000347660.6:n.*8G>C
ENST00000357806.11:c.474G>C	ENSP00000350457.7:p.Glu158Asp
ENST00000357857.13:c.609G>C	ENSP00000350523.9:p.Glu203Asp
ENST00000359984.11:c.465G>C	ENSP00000353073.8:p.Glu155Asp
ENST00000360019.6:c.771G>C	ENSP00000353116.2:p.Glu257Asp
ENST00000395653.8:c.471G>C	ENSP00000379014.4:p.Glu157Asp
ENST00000561689.5:n.612G>C
ENST00000563874.5:n.2125G>C
ENST00000564574.5:n.819G>C
ENST00000565047.1:n.365G>C
ENST00000565140.5:c.554G>C	ENSP00000455342.1:n.554G>C
ENST00000565316.5:c.771G>C	ENSP00000456117.1:p.Glu257Asp
ENST00000565688.5:c.522G>C	ENSP00000456122.1:p.Glu174Asp
ENST00000565778.5:c.402G>C	ENSP00000458015.1:p.Glu134Asp
ENST00000566057.5:c.385G>C	ENSP00000456693.1:n.385G>C
ENST00000566083.5:n.1002G>C
ENST00000566824.5:n.820G>C
ENST00000567495.5:c.*8G>C	ENSP00000456013.1:n.*8G>C
ENST00000567963.5:c.771G>C	ENSP00000455387.1:p.Glu257Asp
ENST00000568076.5:n.554G>C
ENST00000568224.4:c.537G>C	ENSP00000454253.1:p.Glu179Asp
ENST00000568422.5:c.*8G>C	ENSP00000455549.1:n.*8G>C
ENST00000568452.5:n.771G>C
ENST00000568472.5:n.251G>C
ENST00000568497.5:c.*67G>C	ENSP00000456414.1:n.*67G>C
ENST00000568558.5:c.312G>C	ENSP00000455603.1:p.Glu104Asp
ENST00000569030.5:c.461-1353G>C	ENSP00000454680.1:n.461-1353G>C
ENST00000569430.5:c.771G>C	ENSP00000454229.1:p.Glu257Asp
ENST00000628023.2:c.*67G>C	ENSP00000486178.1:n.*67G>C
ENST00000631023.2:c.771G>C	ENSP00000486616.1:p.Glu257Asp
NM_000086.2:c.771G>C , LRG_689t1:c.771G>C	NP_000077.1:p.Glu257Asp
NM_001042432.1:c.771G>C , LRG_689t2:c.771G>C	NP_001035897.1:p.Glu257Asp
NM_001286104.1:c.699G>C	NP_001273033.1:p.Glu233Asp
NM_001286105.1:c.471G>C	NP_001273034.1:p.Glu157Asp
NM_001286109.1:c.537G>C	NP_001273038.1:p.Glu179Asp
NM_001286110.1:c.609G>C	NP_001273039.1:p.Glu203Asp
NM_001042432.2:c.771G>C MANE Select	NP_001035897.1:p.Glu257Asp
NM_001286104.2:c.699G>C	NP_001273033.1:p.Glu233Asp
NM_001286105.2:c.471G>C	NP_001273034.1:p.Glu157Asp
NM_001286109.2:c.537G>C	NP_001273038.1:p.Glu179Asp
NM_001286110.2:c.609G>C	NP_001273039.1:p.Glu203Asp