Canonical Allele Identifier: CA494268840

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493477A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482156A>T , CM000678.2:g.28482156A>T	GRCh38
NC_000016.9:g.28493477A>T , CM000678.1:g.28493477A>T	GRCh37
NC_000016.8:g.28400978A>T	NCBI36
NG_008654.2:g.15147T>A , LRG_689:g.15147T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.933T>A	ENSP00000329171.9:p.Ser311=
ENST00000355477.10:c.861T>A	ENSP00000347660.7:p.Ser287=
ENST00000357857.14:c.843T>A	ENSP00000350523.9:p.Ser281=
ENST00000359984.12:c.1005T>A	ENSP00000353073.9:p.Ser335=
ENST00000360019.8:c.933T>A	ENSP00000353116.3:p.Ser311=
ENST00000395653.9:c.546T>A	ENSP00000379014.5:p.Ser182=
ENST00000561689.6:n.1418T>A
ENST00000564091.6:c.345T>A	ENSP00000454466.2:p.Ser115=
ENST00000565316.6:c.954T>A	ENSP00000456117.1:p.Ser318=
ENST00000566824.6:n.1065T>A
ENST00000567963.6:c.843T>A	ENSP00000455387.2:p.Ser281=
ENST00000568076.6:n.1434T>A
ENST00000568422.6:c.*242T>A	ENSP00000455549.2:n.*242T>A
ENST00000568452.6:n.1236T>A
ENST00000568497.6:c.36T>A	ENSP00000456414.2:p.Ser12=
ENST00000569430.7:c.1005T>A	ENSP00000454229.1:p.Ser335=
ENST00000628023.3:c.*301T>A	ENSP00000486178.1:n.*301T>A
ENST00000635861.1:c.*657T>A	ENSP00000490034.1:n.*657T>A
ENST00000635887.1:c.1005T>A	ENSP00000490709.1:p.Ser335=
ENST00000635958.1:n.1290T>A
ENST00000635973.1:c.756T>A	ENSP00000490363.1:p.Ser252=
ENST00000636017.1:c.*529T>A	ENSP00000490538.1:n.*529T>A
ENST00000636078.1:n.1127T>A
ENST00000636147.2:c.1005T>A MANE Select	ENSP00000490105.1:p.Ser335=
ENST00000636172.1:c.*529T>A	ENSP00000490505.1:n.*529T>A
ENST00000636228.1:c.699T>A	ENSP00000489627.1:p.Ser233=
ENST00000636351.1:n.899T>A
ENST00000636503.1:c.1005T>A	ENSP00000489824.1:p.Ser335=
ENST00000636685.1:n.686T>A
ENST00000636766.1:c.1005T>A	ENSP00000489841.1:p.Ser335=
ENST00000636839.1:n.1379T>A
ENST00000636853.1:n.1920T>A
ENST00000636866.1:c.1005T>A	ENSP00000490880.1:p.Ser335=
ENST00000636907.1:n.1156T>A
ENST00000636977.1:n.2375T>A
ENST00000637050.1:n.1394T>A
ENST00000637100.1:c.954T>A	ENSP00000490394.1:p.Ser318=
ENST00000637107.1:c.*529T>A	ENSP00000490248.1:n.*529T>A
ENST00000637184.1:c.1005T>A	ENSP00000489952.1:p.Ser335=
ENST00000637299.1:c.*814T>A	ENSP00000489823.1:n.*814T>A
ENST00000637376.1:c.1005T>A	ENSP00000490758.1:p.Ser335=
ENST00000637378.1:c.177T>A	ENSP00000490831.1:p.Ser59=
ENST00000637578.1:c.*529T>A	ENSP00000490206.1:n.*529T>A
ENST00000637699.1:c.916T>A	ENSP00000490049.1:n.916T>A
ENST00000637745.1:c.344T>A
ENST00000637871.1:c.*703T>A	ENSP00000490670.1:n.*703T>A
ENST00000638036.1:c.167T>A
ENST00000333496.13:c.933T>A	ENSP00000329171.9:p.Ser311=
ENST00000355477.9:c.*242T>A	ENSP00000347660.6:n.*242T>A
ENST00000357806.11:c.708T>A	ENSP00000350457.7:p.Ser236=
ENST00000357857.13:c.843T>A	ENSP00000350523.9:p.Ser281=
ENST00000359984.11:c.699T>A	ENSP00000353073.8:p.Ser233=
ENST00000360019.6:c.1005T>A	ENSP00000353116.2:p.Ser335=
ENST00000395653.8:c.705T>A	ENSP00000379014.4:p.Ser235=
ENST00000561689.5:n.974T>A
ENST00000563874.5:n.2533T>A
ENST00000564091.5:c.94T>A
ENST00000565140.5:c.788T>A	ENSP00000455342.1:n.788T>A
ENST00000565316.5:c.954T>A	ENSP00000456117.1:p.Ser318=
ENST00000565354.5:n.318T>A
ENST00000566057.5:c.619T>A	ENSP00000456693.1:n.619T>A
ENST00000567963.5:c.906+321T>A	ENSP00000455387.1:n.906+321T>A
ENST00000568076.5:n.916T>A
ENST00000568224.4:c.771T>A	ENSP00000454253.1:p.Ser257=
ENST00000568422.5:c.*242T>A	ENSP00000455549.1:n.*242T>A
ENST00000568452.5:n.1133T>A
ENST00000568558.5:c.546T>A	ENSP00000455603.1:p.Ser182=
ENST00000569030.5:c.675T>A	ENSP00000454680.1:p.Ser225=
ENST00000569430.5:c.1005T>A	ENSP00000454229.1:p.Ser335=
ENST00000628023.2:c.*301T>A	ENSP00000486178.1:n.*301T>A
ENST00000631023.2:c.906+321T>A	ENSP00000486616.1:n.906+321T>A
NM_000086.2:c.1005T>A , LRG_689t1:c.1005T>A	NP_000077.1:p.Ser335=
NM_001042432.1:c.1005T>A , LRG_689t2:c.1005T>A	NP_001035897.1:p.Ser335=
NM_001286104.1:c.933T>A	NP_001273033.1:p.Ser311=
NM_001286105.1:c.705T>A	NP_001273034.1:p.Ser235=
NM_001286109.1:c.771T>A	NP_001273038.1:p.Ser257=
NM_001286110.1:c.843T>A	NP_001273039.1:p.Ser281=
NM_001042432.2:c.1005T>A MANE Select	NP_001035897.1:p.Ser335=
NM_001286104.2:c.933T>A	NP_001273033.1:p.Ser311=
NM_001286105.2:c.705T>A	NP_001273034.1:p.Ser235=
NM_001286109.2:c.771T>A	NP_001273038.1:p.Ser257=
NM_001286110.2:c.843T>A	NP_001273039.1:p.Ser281=