Canonical Allele Identifier: CA395344929

Gene: CLN3

Linked Data

• ClinVar Variation Id: 2733016
• ClinVar RCV Id: RCV003531520
• gnomAD v4: 16-28484100-T-C
• MyVariant Identifiers: chr16:g.28495421T>C (hg19) ; chr16:g.28484100T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484100T>C , CM000678.2:g.28484100T>C	GRCh38
NC_000016.9:g.28495421T>C , CM000678.1:g.28495421T>C	GRCh37
NC_000016.8:g.28402922T>C	NCBI36
NG_008654.2:g.13203A>G , LRG_689:g.13203A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.624A>G	ENSP00000329171.9:p.Thr208=
ENST00000355477.10:c.552A>G	ENSP00000347660.7:p.Thr184=
ENST00000357857.14:c.534A>G	ENSP00000350523.9:p.Thr178=
ENST00000359984.12:c.696A>G	ENSP00000353073.9:p.Thr232=
ENST00000360019.8:c.624A>G	ENSP00000353116.3:p.Thr208=
ENST00000395653.9:c.237A>G	ENSP00000379014.5:p.Thr79=
ENST00000561689.6:n.981A>G
ENST00000564091.6:c.36A>G	ENSP00000454466.2:p.Thr12=
ENST00000565316.6:c.696A>G	ENSP00000456117.1:p.Thr232=
ENST00000565778.6:c.327A>G	ENSP00000458015.1:p.Thr109=
ENST00000566083.6:n.1154A>G
ENST00000566824.6:n.676A>G
ENST00000567495.6:c.*155A>G	ENSP00000456013.2:n.*155A>G
ENST00000567963.6:c.534A>G	ENSP00000455387.2:p.Thr178=
ENST00000568076.6:n.823A>G
ENST00000568422.6:c.479A>G	ENSP00000455549.2:p.His160Arg
ENST00000568452.6:n.799A>G
ENST00000568472.6:n.572A>G
ENST00000568497.6:c.-274A>G	ENSP00000456414.2:n.-274A>G
ENST00000568558.6:c.399A>G	ENSP00000455603.2:p.Thr133=
ENST00000569430.7:c.696A>G	ENSP00000454229.1:p.Thr232=
ENST00000628023.3:c.241A>G	ENSP00000486178.1:p.Ile81Val
ENST00000635861.1:c.*220A>G	ENSP00000490034.1:n.*220A>G
ENST00000635887.1:c.696A>G	ENSP00000490709.1:p.Thr232=
ENST00000635958.1:n.807A>G
ENST00000635973.1:c.447A>G	ENSP00000490363.1:p.Thr149=
ENST00000636017.1:c.*220A>G	ENSP00000490538.1:n.*220A>G
ENST00000636078.1:n.738A>G
ENST00000636147.2:c.696A>G MANE Select	ENSP00000490105.1:p.Thr232=
ENST00000636172.1:c.*220A>G	ENSP00000490505.1:n.*220A>G
ENST00000636228.1:c.390A>G	ENSP00000489627.1:p.Thr130=
ENST00000636351.1:n.416A>G
ENST00000636503.1:c.696A>G	ENSP00000489824.1:p.Thr232=
ENST00000636685.1:n.203A>G
ENST00000636766.1:c.696A>G	ENSP00000489841.1:p.Thr232=
ENST00000636839.1:n.848A>G
ENST00000636853.1:n.1611A>G
ENST00000636866.1:c.696A>G	ENSP00000490880.1:p.Thr232=
ENST00000636907.1:n.847A>G
ENST00000636977.1:n.1764A>G
ENST00000637050.1:n.783A>G
ENST00000637100.1:c.696A>G	ENSP00000490394.1:p.Thr232=
ENST00000637107.1:c.*220A>G	ENSP00000490248.1:n.*220A>G
ENST00000637184.1:c.696A>G	ENSP00000489952.1:p.Thr232=
ENST00000637299.1:c.*505A>G	ENSP00000489823.1:n.*505A>G
ENST00000637376.1:c.696A>G	ENSP00000490758.1:p.Thr232=
ENST00000637578.1:c.*220A>G	ENSP00000490206.1:n.*220A>G
ENST00000637699.1:c.479A>G	ENSP00000490049.1:p.His160Arg
ENST00000637745.1:c.35A>G
ENST00000637871.1:c.*220A>G	ENSP00000490670.1:n.*220A>G
ENST00000333496.13:c.624A>G	ENSP00000329171.9:p.Thr208=
ENST00000355477.9:c.479A>G	ENSP00000347660.6:p.His160Arg
ENST00000357806.11:c.399A>G	ENSP00000350457.7:p.Thr133=
ENST00000357857.13:c.534A>G	ENSP00000350523.9:p.Thr178=
ENST00000359984.11:c.390A>G	ENSP00000353073.8:p.Thr130=
ENST00000360019.6:c.696A>G	ENSP00000353116.2:p.Thr232=
ENST00000395653.8:c.396A>G	ENSP00000379014.4:p.Thr132=
ENST00000561689.5:n.537A>G
ENST00000563874.5:n.2050A>G
ENST00000564574.5:n.744A>G
ENST00000565047.1:n.290A>G
ENST00000565140.5:c.479A>G	ENSP00000455342.1:p.His160Arg
ENST00000565316.5:c.696A>G	ENSP00000456117.1:p.Thr232=
ENST00000565688.5:c.447A>G	ENSP00000456122.1:p.Thr149=
ENST00000565778.5:c.327A>G	ENSP00000458015.1:p.Thr109=
ENST00000566057.5:c.310A>G	ENSP00000456693.1:p.Ile104Val
ENST00000566083.5:n.927A>G
ENST00000566824.5:n.745A>G
ENST00000567495.5:c.479A>G	ENSP00000456013.1:p.His160Arg
ENST00000567963.5:c.696A>G	ENSP00000455387.1:p.Thr232=
ENST00000568076.5:n.479A>G
ENST00000568224.4:c.462A>G	ENSP00000454253.1:p.Thr154=
ENST00000568422.5:c.332A>G	ENSP00000455549.1:p.His111Arg
ENST00000568452.5:n.696A>G
ENST00000568472.5:n.176A>G
ENST00000568497.5:c.241A>G	ENSP00000456414.1:p.Ile81Val
ENST00000568558.5:c.237A>G	ENSP00000455603.1:p.Thr79=
ENST00000569030.5:c.461-1428A>G	ENSP00000454680.1:n.461-1428A>G
ENST00000569430.5:c.696A>G	ENSP00000454229.1:p.Thr232=
ENST00000628023.2:c.241A>G	ENSP00000486178.1:p.Ile81Val
ENST00000631023.2:c.696A>G	ENSP00000486616.1:p.Thr232=
NM_000086.2:c.696A>G , LRG_689t1:c.696A>G	NP_000077.1:p.Thr232=
NM_001042432.1:c.696A>G , LRG_689t2:c.696A>G	NP_001035897.1:p.Thr232=
NM_001286104.1:c.624A>G	NP_001273033.1:p.Thr208=
NM_001286105.1:c.396A>G	NP_001273034.1:p.Thr132=
NM_001286109.1:c.462A>G	NP_001273038.1:p.Thr154=
NM_001286110.1:c.534A>G	NP_001273039.1:p.Thr178=
NM_001042432.2:c.696A>G MANE Select	NP_001035897.1:p.Thr232=
NM_001286104.2:c.624A>G	NP_001273033.1:p.Thr208=
NM_001286105.2:c.396A>G	NP_001273034.1:p.Thr132=
NM_001286109.2:c.462A>G	NP_001273038.1:p.Thr154=
NM_001286110.2:c.534A>G	NP_001273039.1:p.Thr178=