Canonical Allele Identifier: CA494272981

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28500704C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28489383C>A , CM000678.2:g.28489383C>A	GRCh38
NC_000016.9:g.28500704C>A , CM000678.1:g.28500704C>A	GRCh37
NC_000016.8:g.28408205C>A	NCBI36
NG_008654.2:g.7920G>T , LRG_689:g.7920G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.129G>T	ENSP00000329171.9:p.Leu43=
ENST00000355477.10:c.129G>T	ENSP00000347660.7:p.Leu43=
ENST00000357857.14:c.-34G>T	ENSP00000350523.9:n.-34G>T
ENST00000359984.12:c.129G>T	ENSP00000353073.9:p.Leu43=
ENST00000360019.8:c.129G>T	ENSP00000353116.3:p.Leu43=
ENST00000395653.9:c.-34G>T	ENSP00000379014.5:n.-34G>T
ENST00000561505.2:c.-34G>T	ENSP00000457615.2:n.-34G>T
ENST00000561689.6:n.414G>T
ENST00000565316.6:c.129G>T	ENSP00000456117.1:p.Leu43=
ENST00000565778.6:c.129G>T	ENSP00000458015.1:p.Leu43=
ENST00000566083.6:n.587G>T
ENST00000566824.6:n.109G>T
ENST00000567495.6:c.129G>T	ENSP00000456013.2:p.Leu43=
ENST00000567963.6:c.-34G>T	ENSP00000455387.2:n.-34G>T
ENST00000568076.6:n.256G>T
ENST00000568422.6:c.129G>T	ENSP00000455549.2:p.Leu43=
ENST00000568443.2:c.282G>T	ENSP00000454899.2:p.Leu94=
ENST00000568452.6:n.232G>T
ENST00000568472.6:n.302G>T
ENST00000568497.6:c.-386G>T	ENSP00000456414.2:n.-386G>T
ENST00000568558.6:c.129G>T	ENSP00000455603.2:p.Leu43=
ENST00000569430.7:c.129G>T	ENSP00000454229.1:p.Leu43=
ENST00000628023.3:c.129G>T	ENSP00000486178.1:p.Leu43=
ENST00000635861.1:c.-34G>T	ENSP00000490034.1:n.-34G>T
ENST00000635887.1:c.129G>T	ENSP00000490709.1:p.Leu43=
ENST00000635958.1:n.240G>T
ENST00000635973.1:c.126-1842G>T	ENSP00000490363.1:n.126-1842G>T
ENST00000636017.1:c.129G>T	ENSP00000490538.1:p.Leu43=
ENST00000636078.1:n.171G>T
ENST00000636147.2:c.129G>T MANE Select	ENSP00000490105.1:p.Leu43=
ENST00000636172.1:c.129G>T	ENSP00000490505.1:p.Leu43=
ENST00000636228.1:c.-34G>T	ENSP00000489627.1:n.-34G>T
ENST00000636503.1:c.129G>T	ENSP00000489824.1:p.Leu43=
ENST00000636766.1:c.129G>T	ENSP00000489841.1:p.Leu43=
ENST00000636839.1:n.281G>T
ENST00000636853.1:n.205G>T
ENST00000636866.1:c.129G>T	ENSP00000490880.1:p.Leu43=
ENST00000636977.1:n.228G>T
ENST00000637100.1:c.129G>T	ENSP00000490394.1:p.Leu43=
ENST00000637107.1:c.282G>T	ENSP00000490248.1:p.Leu94=
ENST00000637184.1:c.129G>T	ENSP00000489952.1:p.Leu43=
ENST00000637299.1:c.82G>T	ENSP00000489823.1:p.Ala28Ser
ENST00000637376.1:c.129G>T	ENSP00000490758.1:p.Leu43=
ENST00000637578.1:c.-34G>T	ENSP00000490206.1:n.-34G>T
ENST00000637699.1:c.129G>T	ENSP00000490049.1:p.Leu43=
ENST00000637871.1:c.129G>T	ENSP00000490670.1:p.Leu43=
ENST00000637985.1:c.*68G>T	ENSP00000490932.1:n.*68G>T
ENST00000333496.13:c.129G>T	ENSP00000329171.9:p.Leu43=
ENST00000355477.9:c.129G>T	ENSP00000347660.6:p.Leu43=
ENST00000357806.11:c.129G>T	ENSP00000350457.7:p.Leu43=
ENST00000357857.13:c.-34G>T	ENSP00000350523.9:n.-34G>T
ENST00000359984.11:c.-34G>T	ENSP00000353073.8:n.-34G>T
ENST00000360019.6:c.129G>T	ENSP00000353116.2:p.Leu43=
ENST00000395653.8:c.-92G>T	ENSP00000379014.4:n.-92G>T
ENST00000561505.1:c.-92G>T	ENSP00000457615.1:n.-92G>T
ENST00000561689.5:n.50G>T
ENST00000563874.5:n.1483G>T
ENST00000564574.5:n.177G>T
ENST00000565047.1:n.114-721G>T
ENST00000565140.5:c.129G>T	ENSP00000455342.1:p.Leu43=
ENST00000565236.1:n.513G>T
ENST00000565316.5:c.129G>T	ENSP00000456117.1:p.Leu43=
ENST00000565688.5:c.126-1842G>T	ENSP00000456122.1:n.126-1842G>T
ENST00000565778.5:c.129G>T	ENSP00000458015.1:p.Leu43=
ENST00000566057.5:c.126-1642G>T	ENSP00000456693.1:n.126-1642G>T
ENST00000566083.5:n.360G>T
ENST00000566824.5:n.258G>T
ENST00000567495.5:c.129G>T	ENSP00000456013.1:p.Leu43=
ENST00000567804.1:c.129G>T	ENSP00000455365.1:p.Leu43=
ENST00000567963.5:c.129G>T	ENSP00000455387.1:p.Leu43=
ENST00000568076.5:n.129G>T
ENST00000568224.4:c.-34G>T	ENSP00000454253.1:n.-34G>T
ENST00000568422.5:c.-92G>T	ENSP00000455549.1:n.-92G>T
ENST00000568443.1:c.282G>T	ENSP00000454899.1:p.Leu94=
ENST00000568452.5:n.129G>T
ENST00000568472.5:n.64G>T
ENST00000568497.5:c.129G>T	ENSP00000456414.1:p.Leu43=
ENST00000568558.5:c.-34G>T	ENSP00000455603.1:n.-34G>T
ENST00000569030.5:c.129G>T	ENSP00000454680.1:p.Leu43=
ENST00000569430.5:c.129G>T	ENSP00000454229.1:p.Leu43=
ENST00000628023.2:c.129G>T	ENSP00000486178.1:p.Leu43=
ENST00000631023.2:c.129G>T	ENSP00000486616.1:p.Leu43=
NM_000086.2:c.129G>T , LRG_689t1:c.129G>T	NP_000077.1:p.Leu43=
NM_001042432.1:c.129G>T , LRG_689t2:c.129G>T	NP_001035897.1:p.Leu43=
NM_001286104.1:c.129G>T	NP_001273033.1:p.Leu43=
NM_001286105.1:c.-92G>T	NP_001273034.1:n.-92G>T
NM_001286109.1:c.-34G>T	NP_001273038.1:n.-34G>T
NM_001286110.1:c.-34G>T	NP_001273039.1:n.-34G>T
NM_001042432.2:c.129G>T MANE Select	NP_001035897.1:p.Leu43=
NM_001286104.2:c.129G>T	NP_001273033.1:p.Leu43=
NM_001286105.2:c.-92G>T	NP_001273034.1:n.-92G>T
NM_001286109.2:c.-34G>T	NP_001273038.1:n.-34G>T
NM_001286110.2:c.-34G>T	NP_001273039.1:n.-34G>T