Canonical Allele Identifier: CA395344021

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493452A>G (hg19) ; chr16:g.28482131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482131A>G , CM000678.2:g.28482131A>G	GRCh38
NC_000016.9:g.28493452A>G , CM000678.1:g.28493452A>G	GRCh37
NC_000016.8:g.28400953A>G	NCBI36
NG_008654.2:g.15172T>C , LRG_689:g.15172T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.958T>C	ENSP00000329171.9:p.Phe320Leu
ENST00000355477.10:c.886T>C	ENSP00000347660.7:p.Phe296Leu
ENST00000357857.14:c.868T>C	ENSP00000350523.9:p.Phe290Leu
ENST00000359984.12:c.1030T>C	ENSP00000353073.9:p.Phe344Leu
ENST00000360019.8:c.958T>C	ENSP00000353116.3:p.Phe320Leu
ENST00000395653.9:c.571T>C	ENSP00000379014.5:p.Phe191Leu
ENST00000561689.6:n.1443T>C
ENST00000564091.6:c.370T>C	ENSP00000454466.2:p.Phe124Leu
ENST00000565316.6:c.979T>C	ENSP00000456117.1:p.Phe327Leu
ENST00000566824.6:n.1090T>C
ENST00000567963.6:c.868T>C	ENSP00000455387.2:p.Phe290Leu
ENST00000568076.6:n.1459T>C
ENST00000568422.6:c.*267T>C	ENSP00000455549.2:n.*267T>C
ENST00000568452.6:n.1261T>C
ENST00000568497.6:c.61T>C	ENSP00000456414.2:p.Phe21Leu
ENST00000569430.7:c.1030T>C	ENSP00000454229.1:p.Phe344Leu
ENST00000628023.3:c.*326T>C	ENSP00000486178.1:n.*326T>C
ENST00000635861.1:c.*682T>C	ENSP00000490034.1:n.*682T>C
ENST00000635887.1:c.1030T>C	ENSP00000490709.1:p.Phe344Leu
ENST00000635958.1:n.1315T>C
ENST00000635973.1:c.781T>C	ENSP00000490363.1:p.Phe261Leu
ENST00000636017.1:c.*554T>C	ENSP00000490538.1:n.*554T>C
ENST00000636078.1:n.1152T>C
ENST00000636147.2:c.1030T>C MANE Select	ENSP00000490105.1:p.Phe344Leu
ENST00000636172.1:c.*554T>C	ENSP00000490505.1:n.*554T>C
ENST00000636228.1:c.724T>C	ENSP00000489627.1:p.Phe242Leu
ENST00000636351.1:n.924T>C
ENST00000636503.1:c.1030T>C	ENSP00000489824.1:p.Phe344Leu
ENST00000636685.1:n.711T>C
ENST00000636766.1:c.1030T>C	ENSP00000489841.1:p.Phe344Leu
ENST00000636839.1:n.1404T>C
ENST00000636853.1:n.1945T>C
ENST00000636866.1:c.1030T>C	ENSP00000490880.1:p.Phe344Leu
ENST00000636907.1:n.1181T>C
ENST00000636977.1:n.2400T>C
ENST00000637050.1:n.1419T>C
ENST00000637100.1:c.979T>C	ENSP00000490394.1:p.Phe327Leu
ENST00000637107.1:c.*554T>C	ENSP00000490248.1:n.*554T>C
ENST00000637184.1:c.1030T>C	ENSP00000489952.1:p.Phe344Leu
ENST00000637299.1:c.*839T>C	ENSP00000489823.1:n.*839T>C
ENST00000637376.1:c.1030T>C	ENSP00000490758.1:p.Phe344Leu
ENST00000637378.1:c.202T>C	ENSP00000490831.1:p.Phe68Leu
ENST00000637578.1:c.*554T>C	ENSP00000490206.1:n.*554T>C
ENST00000637699.1:c.941T>C	ENSP00000490049.1:n.941T>C
ENST00000637745.1:c.369T>C
ENST00000637871.1:c.*728T>C	ENSP00000490670.1:n.*728T>C
ENST00000638036.1:c.192T>C
ENST00000333496.13:c.958T>C	ENSP00000329171.9:p.Phe320Leu
ENST00000355477.9:c.*267T>C	ENSP00000347660.6:n.*267T>C
ENST00000357806.11:c.733T>C	ENSP00000350457.7:p.Phe245Leu
ENST00000357857.13:c.868T>C	ENSP00000350523.9:p.Phe290Leu
ENST00000359984.11:c.724T>C	ENSP00000353073.8:p.Phe242Leu
ENST00000360019.6:c.1030T>C	ENSP00000353116.2:p.Phe344Leu
ENST00000395653.8:c.730T>C	ENSP00000379014.4:p.Phe244Leu
ENST00000561689.5:n.999T>C
ENST00000563874.5:n.2558T>C
ENST00000564091.5:c.119T>C
ENST00000565140.5:c.813T>C	ENSP00000455342.1:n.813T>C
ENST00000565316.5:c.979T>C	ENSP00000456117.1:p.Phe327Leu
ENST00000565354.5:n.343T>C
ENST00000566057.5:c.644T>C	ENSP00000456693.1:n.644T>C
ENST00000567963.5:c.906+346T>C	ENSP00000455387.1:n.906+346T>C
ENST00000568076.5:n.941T>C
ENST00000568224.4:c.796T>C	ENSP00000454253.1:p.Phe266Leu
ENST00000568422.5:c.*267T>C	ENSP00000455549.1:n.*267T>C
ENST00000568452.5:n.1158T>C
ENST00000569030.5:c.700T>C	ENSP00000454680.1:p.Phe234Leu
ENST00000569430.5:c.1030T>C	ENSP00000454229.1:p.Phe344Leu
ENST00000628023.2:c.*326T>C	ENSP00000486178.1:n.*326T>C
ENST00000631023.2:c.906+346T>C	ENSP00000486616.1:n.906+346T>C
NM_000086.2:c.1030T>C , LRG_689t1:c.1030T>C	NP_000077.1:p.Phe344Leu
NM_001042432.1:c.1030T>C , LRG_689t2:c.1030T>C	NP_001035897.1:p.Phe344Leu
NM_001286104.1:c.958T>C	NP_001273033.1:p.Phe320Leu
NM_001286105.1:c.730T>C	NP_001273034.1:p.Phe244Leu
NM_001286109.1:c.796T>C	NP_001273038.1:p.Phe266Leu
NM_001286110.1:c.868T>C	NP_001273039.1:p.Phe290Leu
NM_001042432.2:c.1030T>C MANE Select	NP_001035897.1:p.Phe344Leu
NM_001286104.2:c.958T>C	NP_001273033.1:p.Phe320Leu
NM_001286105.2:c.730T>C	NP_001273034.1:p.Phe244Leu
NM_001286109.2:c.796T>C	NP_001273038.1:p.Phe266Leu
NM_001286110.2:c.868T>C	NP_001273039.1:p.Phe290Leu