Canonical Allele Identifier: CA392973300

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504014A>T (hg19) ; chr15:g.68211676A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211676A>T , CM000677.2:g.68211676A>T	GRCh38
NC_000015.9:g.68504014A>T , CM000677.1:g.68504014A>T	GRCh37
NC_000015.8:g.66291068A>T	NCBI36
NG_008764.2:g.50536T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.485T>A MANE Select	ENSP00000249806.5:p.Leu162Gln
ENST00000562767.2:c.84-14048T>A	ENSP00000456336.1:n.84-14048T>A
ENST00000563917.2:n.327T>A
ENST00000565471.6:c.84-1917T>A	ENSP00000457384.1:n.84-1917T>A
ENST00000635747.1:c.*388T>A	ENSP00000490627.1:n.*388T>A
ENST00000636212.1:c.*36T>A	ENSP00000489851.1:n.*36T>A
ENST00000636314.1:c.183-358T>A	ENSP00000490295.1:n.183-358T>A
ENST00000636674.1:n.1468T>A
ENST00000636964.1:n.1657T>A
ENST00000637054.1:c.198+6860T>A	ENSP00000490807.1:n.198+6860T>A
ENST00000637223.1:c.*201-358T>A	ENSP00000490010.1:n.*201-358T>A
ENST00000637329.1:c.454T>A
ENST00000637450.1:c.*139T>A	ENSP00000490204.1:n.*139T>A
ENST00000637494.1:c.199-358T>A	ENSP00000490057.1:n.199-358T>A
ENST00000637667.1:c.386T>A	ENSP00000489843.1:p.Leu129Gln
ENST00000637823.1:c.224-33T>A
ENST00000637888.1:c.198+6860T>A	ENSP00000490546.1:n.198+6860T>A
ENST00000638076.1:c.485T>A	ENSP00000490373.1:p.Leu162Gln
ENST00000638144.1:n.130-358T>A
ENST00000646164.1:c.38+6860T>A
ENST00000249806.9:c.485T>A	ENSP00000249806.5:p.Leu162Gln
ENST00000538696.5:c.581T>A	ENSP00000445770.1:p.Leu194Gln
ENST00000562767.1:c.84-14048T>A	ENSP00000456336.1:n.84-14048T>A
ENST00000563917.1:n.266T>A
ENST00000564752.1:c.485T>A	ENSP00000457822.1:p.Leu162Gln
ENST00000565471.5:c.84-1917T>A	ENSP00000457384.1:n.84-1917T>A
ENST00000566347.5:c.298-358T>A	ENSP00000457783.1:n.298-358T>A
ENST00000567060.5:c.298-1956T>A	ENSP00000454818.1:n.298-1956T>A
NM_017882.2:c.485T>A	NP_060352.1:p.Leu162Gln
XR_931861.1:n.588T>A
NM_017882.3:c.485T>A MANE Select	NP_060352.1:p.Leu162Gln