Canonical Allele Identifier: CA16041786
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370144
ClinVar RCV Id: RCV000409352
dbSNP Id: rs1057516267
MyVariant Identifiers: chr16:g.28493647C>T (hg19) chr16:g.28482326C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28482326C>T , CM000678.2:g.28482326C>T GRCh38
NC_000016.9:g.28493647C>T , CM000678.1:g.28493647C>T GRCh37
NC_000016.8:g.28401148C>T NCBI36
NG_008654.2:g.14977G>A , LRG_689:g.14977G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000333496.14:c.890+1G>A ENSP00000329171.9:n.890+1G>A
ENST00000355477.10:c.818+1G>A ENSP00000347660.7:n.818+1G>A
ENST00000357857.14:c.800+1G>A ENSP00000350523.9:n.800+1G>A
ENST00000359984.12:c.962+1G>A ENSP00000353073.9:n.962+1G>A
ENST00000360019.8:c.890+1G>A ENSP00000353116.3:n.890+1G>A
ENST00000395653.9:c.503+1G>A ENSP00000379014.5:n.503+1G>A
ENST00000561689.6:n.1248G>A
ENST00000564091.6:c.302+1G>A ENSP00000454466.2:n.302+1G>A
ENST00000565316.6:c.911+1G>A ENSP00000456117.1:n.911+1G>A
ENST00000566824.6:n.1022+1G>A
ENST00000567963.6:c.800+1G>A ENSP00000455387.2:n.800+1G>A
ENST00000568076.6:n.1264G>A
ENST00000568422.6:c.*199+1G>A ENSP00000455549.2:n.*199+1G>A
ENST00000568452.6:n.1066G>A
ENST00000568497.6:c.-8+1G>A ENSP00000456414.2:n.-8+1G>A
ENST00000569430.7:c.962+1G>A ENSP00000454229.1:n.962+1G>A
ENST00000628023.3:c.*258+1G>A ENSP00000486178.1:n.*258+1G>A
ENST00000635861.1:c.*487G>A ENSP00000490034.1:n.*487G>A
ENST00000635887.1:c.962+1G>A ENSP00000490709.1:n.962+1G>A
ENST00000635958.1:n.1247+1G>A
ENST00000635973.1:c.713+1G>A ENSP00000490363.1:n.713+1G>A
ENST00000636017.1:c.*486+1G>A ENSP00000490538.1:n.*486+1G>A
ENST00000636078.1:n.1084+1G>A
ENST00000636147.2:c.962+1G>A MANE Select ENSP00000490105.1:n.962+1G>A
ENST00000636172.1:c.*486+1G>A ENSP00000490505.1:n.*486+1G>A
ENST00000636228.1:c.656+1G>A ENSP00000489627.1:n.656+1G>A
ENST00000636351.1:n.856+1G>A
ENST00000636503.1:c.962+1G>A ENSP00000489824.1:n.962+1G>A
ENST00000636685.1:n.643+1G>A
ENST00000636766.1:c.962+1G>A ENSP00000489841.1:n.962+1G>A
ENST00000636839.1:n.1209G>A
ENST00000636853.1:n.1877+1G>A
ENST00000636866.1:c.962+1G>A ENSP00000490880.1:n.962+1G>A
ENST00000636907.1:n.1113+1G>A
ENST00000636977.1:n.2205G>A
ENST00000637050.1:n.1224G>A
ENST00000637100.1:c.911+1G>A ENSP00000490394.1:n.911+1G>A
ENST00000637107.1:c.*486+1G>A ENSP00000490248.1:n.*486+1G>A
ENST00000637184.1:c.962+1G>A ENSP00000489952.1:n.962+1G>A
ENST00000637299.1:c.*771+1G>A ENSP00000489823.1:n.*771+1G>A
ENST00000637376.1:c.962+1G>A ENSP00000490758.1:n.962+1G>A
ENST00000637378.1:c.134+1G>A ENSP00000490831.1:n.134+1G>A
ENST00000637578.1:c.*486+1G>A ENSP00000490206.1:n.*486+1G>A
ENST00000637699.1:c.746G>A ENSP00000490049.1:n.746G>A
ENST00000637745.1:c.301+1G>A
ENST00000637871.1:c.*660+1G>A ENSP00000490670.1:n.*660+1G>A
ENST00000638036.1:c.124+1G>A
ENST00000333496.13:c.890+1G>A ENSP00000329171.9:n.890+1G>A
ENST00000355477.9:c.*199+1G>A ENSP00000347660.6:n.*199+1G>A
ENST00000357806.11:c.665+1G>A ENSP00000350457.7:n.665+1G>A
ENST00000357857.13:c.800+1G>A ENSP00000350523.9:n.800+1G>A
ENST00000359984.11:c.656+1G>A ENSP00000353073.8:n.656+1G>A
ENST00000360019.6:c.962+1G>A ENSP00000353116.2:n.962+1G>A
ENST00000395653.8:c.662+1G>A ENSP00000379014.4:n.662+1G>A
ENST00000561689.5:n.804G>A
ENST00000563874.5:n.2490+1G>A
ENST00000564091.5:c.51+1G>A
ENST00000564574.5:n.1011G>A
ENST00000565140.5:c.745+1G>A ENSP00000455342.1:n.745+1G>A
ENST00000565316.5:c.911+1G>A ENSP00000456117.1:n.911+1G>A
ENST00000565354.5:n.275+1G>A
ENST00000566057.5:c.576+1G>A ENSP00000456693.1:n.576+1G>A
ENST00000567963.5:c.906+151G>A ENSP00000455387.1:n.906+151G>A
ENST00000568076.5:n.746G>A
ENST00000568224.4:c.728+1G>A ENSP00000454253.1:n.728+1G>A
ENST00000568422.5:c.*199+1G>A ENSP00000455549.1:n.*199+1G>A
ENST00000568452.5:n.963G>A
ENST00000568472.5:n.442+1G>A
ENST00000568558.5:c.503+1G>A ENSP00000455603.1:n.503+1G>A
ENST00000569030.5:c.632+1G>A ENSP00000454680.1:n.632+1G>A
ENST00000569430.5:c.962+1G>A ENSP00000454229.1:n.962+1G>A
ENST00000628023.2:c.*258+1G>A ENSP00000486178.1:n.*258+1G>A
ENST00000631023.2:c.906+151G>A ENSP00000486616.1:n.906+151G>A
NM_000086.2:c.962+1G>A , LRG_689t1:c.962+1G>A NP_000077.1:n.962+1G>A
NM_001042432.1:c.962+1G>A , LRG_689t2:c.962+1G>A NP_001035897.1:n.962+1G>A
NM_001286104.1:c.890+1G>A NP_001273033.1:n.890+1G>A
NM_001286105.1:c.662+1G>A NP_001273034.1:n.662+1G>A
NM_001286109.1:c.728+1G>A NP_001273038.1:n.728+1G>A
NM_001286110.1:c.800+1G>A NP_001273039.1:n.800+1G>A
NM_001042432.2:c.962+1G>A MANE Select NP_001035897.1:n.962+1G>A
NM_001286104.2:c.890+1G>A NP_001273033.1:n.890+1G>A
NM_001286105.2:c.662+1G>A NP_001273034.1:n.662+1G>A
NM_001286109.2:c.728+1G>A NP_001273038.1:n.728+1G>A
NM_001286110.2:c.800+1G>A NP_001273039.1:n.800+1G>A
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