Canonical Allele Identifier: CA494272667

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28498991C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28487670C>A , CM000678.2:g.28487670C>A	GRCh38
NC_000016.9:g.28498991C>A , CM000678.1:g.28498991C>A	GRCh37
NC_000016.8:g.28406492C>A	NCBI36
NG_008654.2:g.9633G>T , LRG_689:g.9633G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.294G>T	ENSP00000329171.9:p.Leu98=
ENST00000355477.10:c.366G>T	ENSP00000347660.7:p.Leu122=
ENST00000357857.14:c.204G>T	ENSP00000350523.9:p.Leu68=
ENST00000359984.12:c.366G>T	ENSP00000353073.9:p.Leu122=
ENST00000360019.8:c.294G>T	ENSP00000353116.3:p.Leu98=
ENST00000395653.9:c.133-129G>T	ENSP00000379014.5:n.133-129G>T
ENST00000561505.2:c.61-129G>T	ENSP00000457615.2:n.61-129G>T
ENST00000561689.6:n.651G>T
ENST00000565316.6:c.366G>T	ENSP00000456117.1:p.Leu122=
ENST00000565778.6:c.223-129G>T	ENSP00000458015.1:n.223-129G>T
ENST00000566083.6:n.824G>T
ENST00000566824.6:n.346G>T
ENST00000567495.6:c.366G>T	ENSP00000456013.2:p.Leu122=
ENST00000567963.6:c.204G>T	ENSP00000455387.2:p.Leu68=
ENST00000568076.6:n.493G>T
ENST00000568422.6:c.366G>T	ENSP00000455549.2:p.Leu122=
ENST00000568443.2:c.519G>T	ENSP00000454899.2:p.Leu173=
ENST00000568452.6:n.469G>T
ENST00000568472.6:n.468-129G>T
ENST00000568497.6:c.-293+1620G>T	ENSP00000456414.2:n.-293+1620G>T
ENST00000568558.6:c.295-129G>T	ENSP00000455603.2:n.295-129G>T
ENST00000569430.7:c.366G>T	ENSP00000454229.1:p.Leu122=
ENST00000628023.3:c.222+1620G>T	ENSP00000486178.1:n.222+1620G>T
ENST00000635861.1:c.133-129G>T	ENSP00000490034.1:n.133-129G>T
ENST00000635887.1:c.366G>T	ENSP00000490709.1:p.Leu122=
ENST00000635958.1:n.477G>T
ENST00000635973.1:c.126-129G>T	ENSP00000490363.1:n.126-129G>T
ENST00000636017.1:c.295-129G>T	ENSP00000490538.1:n.295-129G>T
ENST00000636078.1:n.408G>T
ENST00000636147.2:c.366G>T MANE Select	ENSP00000490105.1:p.Leu122=
ENST00000636172.1:c.295-129G>T	ENSP00000490505.1:n.295-129G>T
ENST00000636228.1:c.204G>T	ENSP00000489627.1:p.Leu68=
ENST00000636351.1:n.86G>T
ENST00000636503.1:c.366G>T	ENSP00000489824.1:p.Leu122=
ENST00000636766.1:c.366G>T	ENSP00000489841.1:p.Leu122=
ENST00000636839.1:n.518G>T
ENST00000636853.1:n.442G>T
ENST00000636866.1:c.366G>T	ENSP00000490880.1:p.Leu122=
ENST00000636977.1:n.1314G>T
ENST00000637100.1:c.366G>T	ENSP00000490394.1:p.Leu122=
ENST00000637107.1:c.448-129G>T	ENSP00000490248.1:n.448-129G>T
ENST00000637184.1:c.366G>T	ENSP00000489952.1:p.Leu122=
ENST00000637299.1:c.*175G>T	ENSP00000489823.1:n.*175G>T
ENST00000637376.1:c.366G>T	ENSP00000490758.1:p.Leu122=
ENST00000637578.1:c.133-129G>T	ENSP00000490206.1:n.133-129G>T
ENST00000637699.1:c.366G>T	ENSP00000490049.1:p.Leu122=
ENST00000637871.1:c.295-129G>T	ENSP00000490670.1:n.295-129G>T
ENST00000637985.1:c.*305G>T	ENSP00000490932.1:n.*305G>T
ENST00000333496.13:c.294G>T	ENSP00000329171.9:p.Leu98=
ENST00000355477.9:c.366G>T	ENSP00000347660.6:p.Leu122=
ENST00000357806.11:c.295-129G>T	ENSP00000350457.7:n.295-129G>T
ENST00000357857.13:c.204G>T	ENSP00000350523.9:p.Leu68=
ENST00000359984.11:c.204G>T	ENSP00000353073.8:p.Leu68=
ENST00000360019.6:c.366G>T	ENSP00000353116.2:p.Leu122=
ENST00000395653.8:c.75-129G>T	ENSP00000379014.4:n.75-129G>T
ENST00000561505.1:c.75-129G>T	ENSP00000457615.1:n.75-129G>T
ENST00000561689.5:n.216-129G>T
ENST00000563874.5:n.1720G>T
ENST00000564574.5:n.414G>T
ENST00000565047.1:n.186-129G>T
ENST00000565140.5:c.366G>T	ENSP00000455342.1:p.Leu122=
ENST00000565316.5:c.366G>T	ENSP00000456117.1:p.Leu122=
ENST00000565688.5:c.126-129G>T	ENSP00000456122.1:n.126-129G>T
ENST00000565778.5:c.223-129G>T	ENSP00000458015.1:n.223-129G>T
ENST00000566057.5:c.197G>T	ENSP00000456693.1:p.Cys66Phe
ENST00000566083.5:n.597G>T
ENST00000566824.5:n.424-129G>T
ENST00000567495.5:c.366G>T	ENSP00000456013.1:p.Leu122=
ENST00000567963.5:c.366G>T	ENSP00000455387.1:p.Leu122=
ENST00000568076.5:n.366G>T
ENST00000568224.4:c.132G>T	ENSP00000454253.1:p.Leu44=
ENST00000568422.5:c.146G>T	ENSP00000455549.1:p.Cys49Phe
ENST00000568443.1:c.519G>T	ENSP00000454899.1:p.Leu173=
ENST00000568452.5:n.366G>T
ENST00000568472.5:n.157+1620G>T
ENST00000568497.5:c.222+1620G>T	ENSP00000456414.1:n.222+1620G>T
ENST00000568558.5:c.133-129G>T	ENSP00000455603.1:n.133-129G>T
ENST00000569030.5:c.366G>T	ENSP00000454680.1:p.Leu122=
ENST00000569430.5:c.366G>T	ENSP00000454229.1:p.Leu122=
ENST00000628023.2:c.222+1620G>T	ENSP00000486178.1:n.222+1620G>T
ENST00000631023.2:c.366G>T	ENSP00000486616.1:p.Leu122=
NM_000086.2:c.366G>T , LRG_689t1:c.366G>T	NP_000077.1:p.Leu122=
NM_001042432.1:c.366G>T , LRG_689t2:c.366G>T	NP_001035897.1:p.Leu122=
NM_001286104.1:c.294G>T	NP_001273033.1:p.Leu98=
NM_001286105.1:c.75-129G>T	NP_001273034.1:n.75-129G>T
NM_001286109.1:c.132G>T	NP_001273038.1:p.Leu44=
NM_001286110.1:c.204G>T	NP_001273039.1:p.Leu68=
NM_001042432.2:c.366G>T MANE Select	NP_001035897.1:p.Leu122=
NM_001286104.2:c.294G>T	NP_001273033.1:p.Leu98=
NM_001286105.2:c.75-129G>T	NP_001273034.1:n.75-129G>T
NM_001286109.2:c.132G>T	NP_001273038.1:p.Leu44=
NM_001286110.2:c.204G>T	NP_001273039.1:p.Leu68=