Canonical Allele Identifier: CA392972873

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502025C>A (hg19) ; chr15:g.68209687C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.615G>T MANE Select	ENSP00000249806.5:p.Leu205Phe
ENST00000562767.2:c.84-12059G>T	ENSP00000456336.1:n.84-12059G>T
ENST00000563917.2:n.457G>T
ENST00000565471.6:c.156G>T	ENSP00000457384.1:p.Leu52Phe
ENST00000635747.1:c.*518G>T	ENSP00000490627.1:n.*518G>T
ENST00000636212.1:c.*285G>T	ENSP00000489851.1:n.*285G>T
ENST00000636314.1:c.311G>T	ENSP00000490295.1:p.Ter104Leu
ENST00000636674.1:n.1717G>T
ENST00000636964.1:n.2143G>T
ENST00000637054.1:c.198+8849G>T	ENSP00000490807.1:n.198+8849G>T
ENST00000637329.1:c.584G>T
ENST00000637450.1:c.*269G>T	ENSP00000490204.1:n.*269G>T
ENST00000637494.1:c.327G>T	ENSP00000490057.1:p.Leu109Phe
ENST00000637667.1:c.516G>T	ENSP00000489843.1:p.Leu172Phe
ENST00000637823.1:c.440G>T
ENST00000637888.1:c.198+8849G>T	ENSP00000490546.1:n.198+8849G>T
ENST00000638076.1:c.*218G>T	ENSP00000490373.1:n.*218G>T
ENST00000638144.1:n.258G>T
ENST00000646164.1:c.38+8849G>T
ENST00000249806.9:c.615G>T	ENSP00000249806.5:p.Leu205Phe
ENST00000538696.5:c.711G>T	ENSP00000445770.1:p.Leu237Phe
ENST00000562767.1:c.84-12059G>T	ENSP00000456336.1:n.84-12059G>T
ENST00000563917.1:n.515G>T
ENST00000564752.1:c.641G>T	ENSP00000457822.1:p.Ter214Leu
ENST00000565471.5:c.156G>T	ENSP00000457384.1:p.Leu52Phe
ENST00000566347.5:c.426G>T	ENSP00000457783.1:p.Leu142Phe
ENST00000567060.5:c.*13G>T	ENSP00000454818.1:n.*13G>T
NM_017882.2:c.615G>T	NP_060352.1:p.Leu205Phe
XR_931861.1:n.837G>T
NM_017882.3:c.615G>T MANE Select	NP_060352.1:p.Leu205Phe