Canonical Allele Identifier: CA395343942

Gene: CLN3

Linked Data

• gnomAD v4: 16-28482115-G-T
• MyVariant Identifiers: chr16:g.28493436G>T (hg19) ; chr16:g.28482115G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482115G>T , CM000678.2:g.28482115G>T	GRCh38
NC_000016.9:g.28493436G>T , CM000678.1:g.28493436G>T	GRCh37
NC_000016.8:g.28400937G>T	NCBI36
NG_008654.2:g.15188C>A , LRG_689:g.15188C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.974C>A	ENSP00000329171.9:p.Ala325Asp
ENST00000355477.10:c.902C>A	ENSP00000347660.7:p.Ala301Asp
ENST00000357857.14:c.884C>A	ENSP00000350523.9:p.Ala295Asp
ENST00000359984.12:c.1046C>A	ENSP00000353073.9:p.Ala349Asp
ENST00000360019.8:c.974C>A	ENSP00000353116.3:p.Ala325Asp
ENST00000395653.9:c.587C>A	ENSP00000379014.5:p.Ala196Asp
ENST00000561689.6:n.1459C>A
ENST00000564091.6:c.386C>A	ENSP00000454466.2:p.Ala129Asp
ENST00000565316.6:c.995C>A	ENSP00000456117.1:p.Ala332Asp
ENST00000566824.6:n.1106C>A
ENST00000567963.6:c.884C>A	ENSP00000455387.2:p.Ala295Asp
ENST00000568076.6:n.1475C>A
ENST00000568422.6:c.*283C>A	ENSP00000455549.2:n.*283C>A
ENST00000568452.6:n.1277C>A
ENST00000568497.6:c.77C>A	ENSP00000456414.2:p.Ala26Asp
ENST00000569430.7:c.1046C>A	ENSP00000454229.1:p.Ala349Asp
ENST00000628023.3:c.*342C>A	ENSP00000486178.1:n.*342C>A
ENST00000635861.1:c.*698C>A	ENSP00000490034.1:n.*698C>A
ENST00000635887.1:c.1046C>A	ENSP00000490709.1:p.Ala349Asp
ENST00000635958.1:n.1331C>A
ENST00000635973.1:c.797C>A	ENSP00000490363.1:p.Ala266Asp
ENST00000636017.1:c.*570C>A	ENSP00000490538.1:n.*570C>A
ENST00000636078.1:n.1168C>A
ENST00000636147.2:c.1046C>A MANE Select	ENSP00000490105.1:p.Ala349Asp
ENST00000636172.1:c.*570C>A	ENSP00000490505.1:n.*570C>A
ENST00000636228.1:c.740C>A	ENSP00000489627.1:p.Ala247Asp
ENST00000636351.1:n.940C>A
ENST00000636503.1:c.1046C>A	ENSP00000489824.1:p.Ala349Asp
ENST00000636685.1:n.727C>A
ENST00000636766.1:c.1046C>A	ENSP00000489841.1:p.Ala349Asp
ENST00000636839.1:n.1420C>A
ENST00000636853.1:n.1961C>A
ENST00000636866.1:c.1046C>A	ENSP00000490880.1:p.Ala349Asp
ENST00000636907.1:n.1197C>A
ENST00000636977.1:n.2416C>A
ENST00000637050.1:n.1435C>A
ENST00000637100.1:c.995C>A	ENSP00000490394.1:p.Ala332Asp
ENST00000637107.1:c.*570C>A	ENSP00000490248.1:n.*570C>A
ENST00000637184.1:c.1046C>A	ENSP00000489952.1:p.Ala349Asp
ENST00000637299.1:c.*855C>A	ENSP00000489823.1:n.*855C>A
ENST00000637376.1:c.1046C>A	ENSP00000490758.1:p.Ala349Asp
ENST00000637378.1:c.218C>A	ENSP00000490831.1:p.Ala73Asp
ENST00000637578.1:c.*570C>A	ENSP00000490206.1:n.*570C>A
ENST00000637699.1:c.957C>A	ENSP00000490049.1:n.957C>A
ENST00000637745.1:c.385C>A
ENST00000637871.1:c.*744C>A	ENSP00000490670.1:n.*744C>A
ENST00000638036.1:c.208C>A
ENST00000333496.13:c.974C>A	ENSP00000329171.9:p.Ala325Asp
ENST00000355477.9:c.*283C>A	ENSP00000347660.6:n.*283C>A
ENST00000357806.11:c.749C>A	ENSP00000350457.7:p.Ala250Asp
ENST00000357857.13:c.884C>A	ENSP00000350523.9:p.Ala295Asp
ENST00000359984.11:c.740C>A	ENSP00000353073.8:p.Ala247Asp
ENST00000360019.6:c.1046C>A	ENSP00000353116.2:p.Ala349Asp
ENST00000395653.8:c.746C>A	ENSP00000379014.4:p.Ala249Asp
ENST00000561689.5:n.1015C>A
ENST00000563874.5:n.2574C>A
ENST00000564091.5:c.135C>A
ENST00000565140.5:c.829C>A	ENSP00000455342.1:n.829C>A
ENST00000565316.5:c.995C>A	ENSP00000456117.1:p.Ala332Asp
ENST00000565354.5:n.359C>A
ENST00000566057.5:c.660C>A	ENSP00000456693.1:n.660C>A
ENST00000567963.5:c.906+362C>A	ENSP00000455387.1:n.906+362C>A
ENST00000568076.5:n.957C>A
ENST00000568224.4:c.812C>A	ENSP00000454253.1:p.Ala271Asp
ENST00000568422.5:c.*283C>A	ENSP00000455549.1:n.*283C>A
ENST00000568452.5:n.1174C>A
ENST00000569030.5:c.716C>A	ENSP00000454680.1:p.Ala239Asp
ENST00000569430.5:c.1046C>A	ENSP00000454229.1:p.Ala349Asp
ENST00000628023.2:c.*342C>A	ENSP00000486178.1:n.*342C>A
ENST00000631023.2:c.906+362C>A	ENSP00000486616.1:n.906+362C>A
NM_000086.2:c.1046C>A , LRG_689t1:c.1046C>A	NP_000077.1:p.Ala349Asp
NM_001042432.1:c.1046C>A , LRG_689t2:c.1046C>A	NP_001035897.1:p.Ala349Asp
NM_001286104.1:c.974C>A	NP_001273033.1:p.Ala325Asp
NM_001286105.1:c.746C>A	NP_001273034.1:p.Ala249Asp
NM_001286109.1:c.812C>A	NP_001273038.1:p.Ala271Asp
NM_001286110.1:c.884C>A	NP_001273039.1:p.Ala295Asp
NM_001042432.2:c.1046C>A MANE Select	NP_001035897.1:p.Ala349Asp
NM_001286104.2:c.974C>A	NP_001273033.1:p.Ala325Asp
NM_001286105.2:c.746C>A	NP_001273034.1:p.Ala249Asp
NM_001286109.2:c.812C>A	NP_001273038.1:p.Ala271Asp
NM_001286110.2:c.884C>A	NP_001273039.1:p.Ala295Asp