Canonical Allele Identifier: CA392972891

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502032T>A (hg19) ; chr15:g.68209694T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209694T>A , CM000677.2:g.68209694T>A	GRCh38
NC_000015.9:g.68502032T>A , CM000677.1:g.68502032T>A	GRCh37
NC_000015.8:g.66289086T>A	NCBI36
NG_008764.2:g.52518A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.608A>T MANE Select	ENSP00000249806.5:p.Glu203Val
ENST00000562767.2:c.84-12066A>T	ENSP00000456336.1:n.84-12066A>T
ENST00000563917.2:n.450A>T
ENST00000565471.6:c.149A>T	ENSP00000457384.1:p.Glu50Val
ENST00000635747.1:c.*511A>T	ENSP00000490627.1:n.*511A>T
ENST00000636212.1:c.*278A>T	ENSP00000489851.1:n.*278A>T
ENST00000636314.1:c.304A>T	ENSP00000490295.1:p.Arg102Ter
ENST00000636674.1:n.1710A>T
ENST00000636964.1:n.2136A>T
ENST00000637054.1:c.198+8842A>T	ENSP00000490807.1:n.198+8842A>T
ENST00000637329.1:c.577A>T
ENST00000637450.1:c.*262A>T	ENSP00000490204.1:n.*262A>T
ENST00000637494.1:c.320A>T	ENSP00000490057.1:p.Glu107Val
ENST00000637667.1:c.509A>T	ENSP00000489843.1:p.Glu170Val
ENST00000637823.1:c.433A>T
ENST00000637888.1:c.198+8842A>T	ENSP00000490546.1:n.198+8842A>T
ENST00000638076.1:c.*211A>T	ENSP00000490373.1:n.*211A>T
ENST00000638144.1:n.251A>T
ENST00000646164.1:c.38+8842A>T
ENST00000249806.9:c.608A>T	ENSP00000249806.5:p.Glu203Val
ENST00000538696.5:c.704A>T	ENSP00000445770.1:p.Glu235Val
ENST00000562767.1:c.84-12066A>T	ENSP00000456336.1:n.84-12066A>T
ENST00000563917.1:n.508A>T
ENST00000564752.1:c.634A>T	ENSP00000457822.1:p.Arg212Ter
ENST00000565471.5:c.149A>T	ENSP00000457384.1:p.Glu50Val
ENST00000566347.5:c.419A>T	ENSP00000457783.1:p.Glu140Val
ENST00000567060.5:c.*6A>T	ENSP00000454818.1:n.*6A>T
NM_017882.2:c.608A>T	NP_060352.1:p.Glu203Val
XR_931861.1:n.830A>T
NM_017882.3:c.608A>T MANE Select	NP_060352.1:p.Glu203Val