Canonical Allele Identifier: CA395343971

Gene: CLN3

Linked Data

• gnomAD v4: 16-28482122-C-T
• MyVariant Identifiers: chr16:g.28493443C>T (hg19) ; chr16:g.28482122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482122C>T , CM000678.2:g.28482122C>T	GRCh38
NC_000016.9:g.28493443C>T , CM000678.1:g.28493443C>T	GRCh37
NC_000016.8:g.28400944C>T	NCBI36
NG_008654.2:g.15181G>A , LRG_689:g.15181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.967G>A	ENSP00000329171.9:p.Ala323Thr
ENST00000355477.10:c.895G>A	ENSP00000347660.7:p.Ala299Thr
ENST00000357857.14:c.877G>A	ENSP00000350523.9:p.Ala293Thr
ENST00000359984.12:c.1039G>A	ENSP00000353073.9:p.Ala347Thr
ENST00000360019.8:c.967G>A	ENSP00000353116.3:p.Ala323Thr
ENST00000395653.9:c.580G>A	ENSP00000379014.5:p.Ala194Thr
ENST00000561689.6:n.1452G>A
ENST00000564091.6:c.379G>A	ENSP00000454466.2:p.Ala127Thr
ENST00000565316.6:c.988G>A	ENSP00000456117.1:p.Ala330Thr
ENST00000566824.6:n.1099G>A
ENST00000567963.6:c.877G>A	ENSP00000455387.2:p.Ala293Thr
ENST00000568076.6:n.1468G>A
ENST00000568422.6:c.*276G>A	ENSP00000455549.2:n.*276G>A
ENST00000568452.6:n.1270G>A
ENST00000568497.6:c.70G>A	ENSP00000456414.2:p.Ala24Thr
ENST00000569430.7:c.1039G>A	ENSP00000454229.1:p.Ala347Thr
ENST00000628023.3:c.*335G>A	ENSP00000486178.1:n.*335G>A
ENST00000635861.1:c.*691G>A	ENSP00000490034.1:n.*691G>A
ENST00000635887.1:c.1039G>A	ENSP00000490709.1:p.Ala347Thr
ENST00000635958.1:n.1324G>A
ENST00000635973.1:c.790G>A	ENSP00000490363.1:p.Ala264Thr
ENST00000636017.1:c.*563G>A	ENSP00000490538.1:n.*563G>A
ENST00000636078.1:n.1161G>A
ENST00000636147.2:c.1039G>A MANE Select	ENSP00000490105.1:p.Ala347Thr
ENST00000636172.1:c.*563G>A	ENSP00000490505.1:n.*563G>A
ENST00000636228.1:c.733G>A	ENSP00000489627.1:p.Ala245Thr
ENST00000636351.1:n.933G>A
ENST00000636503.1:c.1039G>A	ENSP00000489824.1:p.Ala347Thr
ENST00000636685.1:n.720G>A
ENST00000636766.1:c.1039G>A	ENSP00000489841.1:p.Ala347Thr
ENST00000636839.1:n.1413G>A
ENST00000636853.1:n.1954G>A
ENST00000636866.1:c.1039G>A	ENSP00000490880.1:p.Ala347Thr
ENST00000636907.1:n.1190G>A
ENST00000636977.1:n.2409G>A
ENST00000637050.1:n.1428G>A
ENST00000637100.1:c.988G>A	ENSP00000490394.1:p.Ala330Thr
ENST00000637107.1:c.*563G>A	ENSP00000490248.1:n.*563G>A
ENST00000637184.1:c.1039G>A	ENSP00000489952.1:p.Ala347Thr
ENST00000637299.1:c.*848G>A	ENSP00000489823.1:n.*848G>A
ENST00000637376.1:c.1039G>A	ENSP00000490758.1:p.Ala347Thr
ENST00000637378.1:c.211G>A	ENSP00000490831.1:p.Ala71Thr
ENST00000637578.1:c.*563G>A	ENSP00000490206.1:n.*563G>A
ENST00000637699.1:c.950G>A	ENSP00000490049.1:n.950G>A
ENST00000637745.1:c.378G>A
ENST00000637871.1:c.*737G>A	ENSP00000490670.1:n.*737G>A
ENST00000638036.1:c.201G>A
ENST00000333496.13:c.967G>A	ENSP00000329171.9:p.Ala323Thr
ENST00000355477.9:c.*276G>A	ENSP00000347660.6:n.*276G>A
ENST00000357806.11:c.742G>A	ENSP00000350457.7:p.Ala248Thr
ENST00000357857.13:c.877G>A	ENSP00000350523.9:p.Ala293Thr
ENST00000359984.11:c.733G>A	ENSP00000353073.8:p.Ala245Thr
ENST00000360019.6:c.1039G>A	ENSP00000353116.2:p.Ala347Thr
ENST00000395653.8:c.739G>A	ENSP00000379014.4:p.Ala247Thr
ENST00000561689.5:n.1008G>A
ENST00000563874.5:n.2567G>A
ENST00000564091.5:c.128G>A
ENST00000565140.5:c.822G>A	ENSP00000455342.1:n.822G>A
ENST00000565316.5:c.988G>A	ENSP00000456117.1:p.Ala330Thr
ENST00000565354.5:n.352G>A
ENST00000566057.5:c.653G>A	ENSP00000456693.1:n.653G>A
ENST00000567963.5:c.906+355G>A	ENSP00000455387.1:n.906+355G>A
ENST00000568076.5:n.950G>A
ENST00000568224.4:c.805G>A	ENSP00000454253.1:p.Ala269Thr
ENST00000568422.5:c.*276G>A	ENSP00000455549.1:n.*276G>A
ENST00000568452.5:n.1167G>A
ENST00000569030.5:c.709G>A	ENSP00000454680.1:p.Ala237Thr
ENST00000569430.5:c.1039G>A	ENSP00000454229.1:p.Ala347Thr
ENST00000628023.2:c.*335G>A	ENSP00000486178.1:n.*335G>A
ENST00000631023.2:c.906+355G>A	ENSP00000486616.1:n.906+355G>A
NM_000086.2:c.1039G>A , LRG_689t1:c.1039G>A	NP_000077.1:p.Ala347Thr
NM_001042432.1:c.1039G>A , LRG_689t2:c.1039G>A	NP_001035897.1:p.Ala347Thr
NM_001286104.1:c.967G>A	NP_001273033.1:p.Ala323Thr
NM_001286105.1:c.739G>A	NP_001273034.1:p.Ala247Thr
NM_001286109.1:c.805G>A	NP_001273038.1:p.Ala269Thr
NM_001286110.1:c.877G>A	NP_001273039.1:p.Ala293Thr
NM_001042432.2:c.1039G>A MANE Select	NP_001035897.1:p.Ala347Thr
NM_001286104.2:c.967G>A	NP_001273033.1:p.Ala323Thr
NM_001286105.2:c.739G>A	NP_001273034.1:p.Ala247Thr
NM_001286109.2:c.805G>A	NP_001273038.1:p.Ala269Thr
NM_001286110.2:c.877G>A	NP_001273039.1:p.Ala293Thr