Canonical Allele Identifier: CA490911628

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502025C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209687C>T , CM000677.2:g.68209687C>T	GRCh38
NC_000015.9:g.68502025C>T , CM000677.1:g.68502025C>T	GRCh37
NC_000015.8:g.66289079C>T	NCBI36
NG_008764.2:g.52525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.615G>A MANE Select	ENSP00000249806.5:p.Leu205=
ENST00000562767.2:c.84-12059G>A	ENSP00000456336.1:n.84-12059G>A
ENST00000563917.2:n.457G>A
ENST00000565471.6:c.156G>A	ENSP00000457384.1:p.Leu52=
ENST00000635747.1:c.*518G>A	ENSP00000490627.1:n.*518G>A
ENST00000636212.1:c.*285G>A	ENSP00000489851.1:n.*285G>A
ENST00000636314.1:c.311G>A	ENSP00000490295.1:p.Ter104=
ENST00000636674.1:n.1717G>A
ENST00000636964.1:n.2143G>A
ENST00000637054.1:c.198+8849G>A	ENSP00000490807.1:n.198+8849G>A
ENST00000637329.1:c.584G>A
ENST00000637450.1:c.*269G>A	ENSP00000490204.1:n.*269G>A
ENST00000637494.1:c.327G>A	ENSP00000490057.1:p.Leu109=
ENST00000637667.1:c.516G>A	ENSP00000489843.1:p.Leu172=
ENST00000637823.1:c.440G>A
ENST00000637888.1:c.198+8849G>A	ENSP00000490546.1:n.198+8849G>A
ENST00000638076.1:c.*218G>A	ENSP00000490373.1:n.*218G>A
ENST00000638144.1:n.258G>A
ENST00000646164.1:c.38+8849G>A
ENST00000249806.9:c.615G>A	ENSP00000249806.5:p.Leu205=
ENST00000538696.5:c.711G>A	ENSP00000445770.1:p.Leu237=
ENST00000562767.1:c.84-12059G>A	ENSP00000456336.1:n.84-12059G>A
ENST00000563917.1:n.515G>A
ENST00000564752.1:c.641G>A	ENSP00000457822.1:p.Ter214=
ENST00000565471.5:c.156G>A	ENSP00000457384.1:p.Leu52=
ENST00000566347.5:c.426G>A	ENSP00000457783.1:p.Leu142=
ENST00000567060.5:c.*13G>A	ENSP00000454818.1:n.*13G>A
NM_017882.2:c.615G>A	NP_060352.1:p.Leu205=
XR_931861.1:n.837G>A
NM_017882.3:c.615G>A MANE Select	NP_060352.1:p.Leu205=