Canonical Allele Identifier: CA494268818

Gene: CLN3

Linked Data

• dbSNP Id: rs1358488023
• gnomAD v2: 16-28493471-G-A
• MyVariant Identifiers: chr16:g.28493471G>A (hg19) ; chr16:g.28482150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482150G>A , CM000678.2:g.28482150G>A	GRCh38
NC_000016.9:g.28493471G>A , CM000678.1:g.28493471G>A	GRCh37
NC_000016.8:g.28400972G>A	NCBI36
NG_008654.2:g.15153C>T , LRG_689:g.15153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.939C>T	ENSP00000329171.9:p.Leu313=
ENST00000355477.10:c.867C>T	ENSP00000347660.7:p.Leu289=
ENST00000357857.14:c.849C>T	ENSP00000350523.9:p.Leu283=
ENST00000359984.12:c.1011C>T	ENSP00000353073.9:p.Leu337=
ENST00000360019.8:c.939C>T	ENSP00000353116.3:p.Leu313=
ENST00000395653.9:c.552C>T	ENSP00000379014.5:p.Leu184=
ENST00000561689.6:n.1424C>T
ENST00000564091.6:c.351C>T	ENSP00000454466.2:p.Leu117=
ENST00000565316.6:c.960C>T	ENSP00000456117.1:p.Leu320=
ENST00000566824.6:n.1071C>T
ENST00000567963.6:c.849C>T	ENSP00000455387.2:p.Leu283=
ENST00000568076.6:n.1440C>T
ENST00000568422.6:c.*248C>T	ENSP00000455549.2:n.*248C>T
ENST00000568452.6:n.1242C>T
ENST00000568497.6:c.42C>T	ENSP00000456414.2:p.Leu14=
ENST00000569430.7:c.1011C>T	ENSP00000454229.1:p.Leu337=
ENST00000628023.3:c.*307C>T	ENSP00000486178.1:n.*307C>T
ENST00000635861.1:c.*663C>T	ENSP00000490034.1:n.*663C>T
ENST00000635887.1:c.1011C>T	ENSP00000490709.1:p.Leu337=
ENST00000635958.1:n.1296C>T
ENST00000635973.1:c.762C>T	ENSP00000490363.1:p.Leu254=
ENST00000636017.1:c.*535C>T	ENSP00000490538.1:n.*535C>T
ENST00000636078.1:n.1133C>T
ENST00000636147.2:c.1011C>T MANE Select	ENSP00000490105.1:p.Leu337=
ENST00000636172.1:c.*535C>T	ENSP00000490505.1:n.*535C>T
ENST00000636228.1:c.705C>T	ENSP00000489627.1:p.Leu235=
ENST00000636351.1:n.905C>T
ENST00000636503.1:c.1011C>T	ENSP00000489824.1:p.Leu337=
ENST00000636685.1:n.692C>T
ENST00000636766.1:c.1011C>T	ENSP00000489841.1:p.Leu337=
ENST00000636839.1:n.1385C>T
ENST00000636853.1:n.1926C>T
ENST00000636866.1:c.1011C>T	ENSP00000490880.1:p.Leu337=
ENST00000636907.1:n.1162C>T
ENST00000636977.1:n.2381C>T
ENST00000637050.1:n.1400C>T
ENST00000637100.1:c.960C>T	ENSP00000490394.1:p.Leu320=
ENST00000637107.1:c.*535C>T	ENSP00000490248.1:n.*535C>T
ENST00000637184.1:c.1011C>T	ENSP00000489952.1:p.Leu337=
ENST00000637299.1:c.*820C>T	ENSP00000489823.1:n.*820C>T
ENST00000637376.1:c.1011C>T	ENSP00000490758.1:p.Leu337=
ENST00000637378.1:c.183C>T	ENSP00000490831.1:p.Leu61=
ENST00000637578.1:c.*535C>T	ENSP00000490206.1:n.*535C>T
ENST00000637699.1:c.922C>T	ENSP00000490049.1:n.922C>T
ENST00000637745.1:c.350C>T
ENST00000637871.1:c.*709C>T	ENSP00000490670.1:n.*709C>T
ENST00000638036.1:c.173C>T
ENST00000333496.13:c.939C>T	ENSP00000329171.9:p.Leu313=
ENST00000355477.9:c.*248C>T	ENSP00000347660.6:n.*248C>T
ENST00000357806.11:c.714C>T	ENSP00000350457.7:p.Leu238=
ENST00000357857.13:c.849C>T	ENSP00000350523.9:p.Leu283=
ENST00000359984.11:c.705C>T	ENSP00000353073.8:p.Leu235=
ENST00000360019.6:c.1011C>T	ENSP00000353116.2:p.Leu337=
ENST00000395653.8:c.711C>T	ENSP00000379014.4:p.Leu237=
ENST00000561689.5:n.980C>T
ENST00000563874.5:n.2539C>T
ENST00000564091.5:c.100C>T
ENST00000565140.5:c.794C>T	ENSP00000455342.1:n.794C>T
ENST00000565316.5:c.960C>T	ENSP00000456117.1:p.Leu320=
ENST00000565354.5:n.324C>T
ENST00000566057.5:c.625C>T	ENSP00000456693.1:n.625C>T
ENST00000567963.5:c.906+327C>T	ENSP00000455387.1:n.906+327C>T
ENST00000568076.5:n.922C>T
ENST00000568224.4:c.777C>T	ENSP00000454253.1:p.Leu259=
ENST00000568422.5:c.*248C>T	ENSP00000455549.1:n.*248C>T
ENST00000568452.5:n.1139C>T
ENST00000568558.5:c.552C>T	ENSP00000455603.1:p.Leu184=
ENST00000569030.5:c.681C>T	ENSP00000454680.1:p.Leu227=
ENST00000569430.5:c.1011C>T	ENSP00000454229.1:p.Leu337=
ENST00000628023.2:c.*307C>T	ENSP00000486178.1:n.*307C>T
ENST00000631023.2:c.906+327C>T	ENSP00000486616.1:n.906+327C>T
NM_000086.2:c.1011C>T , LRG_689t1:c.1011C>T	NP_000077.1:p.Leu337=
NM_001042432.1:c.1011C>T , LRG_689t2:c.1011C>T	NP_001035897.1:p.Leu337=
NM_001286104.1:c.939C>T	NP_001273033.1:p.Leu313=
NM_001286105.1:c.711C>T	NP_001273034.1:p.Leu237=
NM_001286109.1:c.777C>T	NP_001273038.1:p.Leu259=
NM_001286110.1:c.849C>T	NP_001273039.1:p.Leu283=
NM_001042432.2:c.1011C>T MANE Select	NP_001035897.1:p.Leu337=
NM_001286104.2:c.939C>T	NP_001273033.1:p.Leu313=
NM_001286105.2:c.711C>T	NP_001273034.1:p.Leu237=
NM_001286109.2:c.777C>T	NP_001273038.1:p.Leu259=
NM_001286110.2:c.849C>T	NP_001273039.1:p.Leu283=