Canonical Allele Identifier: CA395343992

Gene: CLN3

Linked Data

• dbSNP Id: rs2046107906
• gnomAD v4: 16-28482127-G-A
• MyVariant Identifiers: chr16:g.28493448G>A (hg19) ; chr16:g.28482127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482127G>A , CM000678.2:g.28482127G>A	GRCh38
NC_000016.9:g.28493448G>A , CM000678.1:g.28493448G>A	GRCh37
NC_000016.8:g.28400949G>A	NCBI36
NG_008654.2:g.15176C>T , LRG_689:g.15176C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.962C>T	ENSP00000329171.9:p.Thr321Ile
ENST00000355477.10:c.890C>T	ENSP00000347660.7:p.Thr297Ile
ENST00000357857.14:c.872C>T	ENSP00000350523.9:p.Thr291Ile
ENST00000359984.12:c.1034C>T	ENSP00000353073.9:p.Thr345Ile
ENST00000360019.8:c.962C>T	ENSP00000353116.3:p.Thr321Ile
ENST00000395653.9:c.575C>T	ENSP00000379014.5:p.Thr192Ile
ENST00000561689.6:n.1447C>T
ENST00000564091.6:c.374C>T	ENSP00000454466.2:p.Thr125Ile
ENST00000565316.6:c.983C>T	ENSP00000456117.1:p.Thr328Ile
ENST00000566824.6:n.1094C>T
ENST00000567963.6:c.872C>T	ENSP00000455387.2:p.Thr291Ile
ENST00000568076.6:n.1463C>T
ENST00000568422.6:c.*271C>T	ENSP00000455549.2:n.*271C>T
ENST00000568452.6:n.1265C>T
ENST00000568497.6:c.65C>T	ENSP00000456414.2:p.Thr22Ile
ENST00000569430.7:c.1034C>T	ENSP00000454229.1:p.Thr345Ile
ENST00000628023.3:c.*330C>T	ENSP00000486178.1:n.*330C>T
ENST00000635861.1:c.*686C>T	ENSP00000490034.1:n.*686C>T
ENST00000635887.1:c.1034C>T	ENSP00000490709.1:p.Thr345Ile
ENST00000635958.1:n.1319C>T
ENST00000635973.1:c.785C>T	ENSP00000490363.1:p.Thr262Ile
ENST00000636017.1:c.*558C>T	ENSP00000490538.1:n.*558C>T
ENST00000636078.1:n.1156C>T
ENST00000636147.2:c.1034C>T MANE Select	ENSP00000490105.1:p.Thr345Ile
ENST00000636172.1:c.*558C>T	ENSP00000490505.1:n.*558C>T
ENST00000636228.1:c.728C>T	ENSP00000489627.1:p.Thr243Ile
ENST00000636351.1:n.928C>T
ENST00000636503.1:c.1034C>T	ENSP00000489824.1:p.Thr345Ile
ENST00000636685.1:n.715C>T
ENST00000636766.1:c.1034C>T	ENSP00000489841.1:p.Thr345Ile
ENST00000636839.1:n.1408C>T
ENST00000636853.1:n.1949C>T
ENST00000636866.1:c.1034C>T	ENSP00000490880.1:p.Thr345Ile
ENST00000636907.1:n.1185C>T
ENST00000636977.1:n.2404C>T
ENST00000637050.1:n.1423C>T
ENST00000637100.1:c.983C>T	ENSP00000490394.1:p.Thr328Ile
ENST00000637107.1:c.*558C>T	ENSP00000490248.1:n.*558C>T
ENST00000637184.1:c.1034C>T	ENSP00000489952.1:p.Thr345Ile
ENST00000637299.1:c.*843C>T	ENSP00000489823.1:n.*843C>T
ENST00000637376.1:c.1034C>T	ENSP00000490758.1:p.Thr345Ile
ENST00000637378.1:c.206C>T	ENSP00000490831.1:p.Thr69Ile
ENST00000637578.1:c.*558C>T	ENSP00000490206.1:n.*558C>T
ENST00000637699.1:c.945C>T	ENSP00000490049.1:n.945C>T
ENST00000637745.1:c.373C>T
ENST00000637871.1:c.*732C>T	ENSP00000490670.1:n.*732C>T
ENST00000638036.1:c.196C>T
ENST00000333496.13:c.962C>T	ENSP00000329171.9:p.Thr321Ile
ENST00000355477.9:c.*271C>T	ENSP00000347660.6:n.*271C>T
ENST00000357806.11:c.737C>T	ENSP00000350457.7:p.Thr246Ile
ENST00000357857.13:c.872C>T	ENSP00000350523.9:p.Thr291Ile
ENST00000359984.11:c.728C>T	ENSP00000353073.8:p.Thr243Ile
ENST00000360019.6:c.1034C>T	ENSP00000353116.2:p.Thr345Ile
ENST00000395653.8:c.734C>T	ENSP00000379014.4:p.Thr245Ile
ENST00000561689.5:n.1003C>T
ENST00000563874.5:n.2562C>T
ENST00000564091.5:c.123C>T
ENST00000565140.5:c.817C>T	ENSP00000455342.1:n.817C>T
ENST00000565316.5:c.983C>T	ENSP00000456117.1:p.Thr328Ile
ENST00000565354.5:n.347C>T
ENST00000566057.5:c.648C>T	ENSP00000456693.1:n.648C>T
ENST00000567963.5:c.906+350C>T	ENSP00000455387.1:n.906+350C>T
ENST00000568076.5:n.945C>T
ENST00000568224.4:c.800C>T	ENSP00000454253.1:p.Thr267Ile
ENST00000568422.5:c.*271C>T	ENSP00000455549.1:n.*271C>T
ENST00000568452.5:n.1162C>T
ENST00000569030.5:c.704C>T	ENSP00000454680.1:p.Thr235Ile
ENST00000569430.5:c.1034C>T	ENSP00000454229.1:p.Thr345Ile
ENST00000628023.2:c.*330C>T	ENSP00000486178.1:n.*330C>T
ENST00000631023.2:c.906+350C>T	ENSP00000486616.1:n.906+350C>T
NM_000086.2:c.1034C>T , LRG_689t1:c.1034C>T	NP_000077.1:p.Thr345Ile
NM_001042432.1:c.1034C>T , LRG_689t2:c.1034C>T	NP_001035897.1:p.Thr345Ile
NM_001286104.1:c.962C>T	NP_001273033.1:p.Thr321Ile
NM_001286105.1:c.734C>T	NP_001273034.1:p.Thr245Ile
NM_001286109.1:c.800C>T	NP_001273038.1:p.Thr267Ile
NM_001286110.1:c.872C>T	NP_001273039.1:p.Thr291Ile
NM_001042432.2:c.1034C>T MANE Select	NP_001035897.1:p.Thr345Ile
NM_001286104.2:c.962C>T	NP_001273033.1:p.Thr321Ile
NM_001286105.2:c.734C>T	NP_001273034.1:p.Thr245Ile
NM_001286109.2:c.800C>T	NP_001273038.1:p.Thr267Ile
NM_001286110.2:c.872C>T	NP_001273039.1:p.Thr291Ile