Canonical Allele Identifier: CA392973425

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504071T>A (hg19) ; chr15:g.68211733T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211733T>A , CM000677.2:g.68211733T>A	GRCh38
NC_000015.9:g.68504071T>A , CM000677.1:g.68504071T>A	GRCh37
NC_000015.8:g.66291125T>A	NCBI36
NG_008764.2:g.50479A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.428A>T MANE Select	ENSP00000249806.5:p.Gln143Leu
ENST00000562767.2:c.84-14105A>T	ENSP00000456336.1:n.84-14105A>T
ENST00000563917.2:n.270A>T
ENST00000565471.6:c.84-1974A>T	ENSP00000457384.1:n.84-1974A>T
ENST00000635747.1:c.*331A>T	ENSP00000490627.1:n.*331A>T
ENST00000636212.1:c.306A>T	ENSP00000489851.1:p.Pro102=
ENST00000636314.1:c.183-415A>T	ENSP00000490295.1:n.183-415A>T
ENST00000636674.1:n.1411A>T
ENST00000636964.1:n.1600A>T
ENST00000637054.1:c.198+6803A>T	ENSP00000490807.1:n.198+6803A>T
ENST00000637223.1:c.*201-415A>T	ENSP00000490010.1:n.*201-415A>T
ENST00000637329.1:c.397A>T
ENST00000637450.1:c.*82A>T	ENSP00000490204.1:n.*82A>T
ENST00000637494.1:c.199-415A>T	ENSP00000490057.1:n.199-415A>T
ENST00000637667.1:c.329A>T	ENSP00000489843.1:p.Gln110Leu
ENST00000637823.1:c.224-90A>T
ENST00000637888.1:c.198+6803A>T	ENSP00000490546.1:n.198+6803A>T
ENST00000638076.1:c.428A>T	ENSP00000490373.1:p.Gln143Leu
ENST00000638144.1:n.130-415A>T
ENST00000646164.1:c.38+6803A>T
ENST00000249806.9:c.428A>T	ENSP00000249806.5:p.Gln143Leu
ENST00000538696.5:c.524A>T	ENSP00000445770.1:p.Gln175Leu
ENST00000562767.1:c.84-14105A>T	ENSP00000456336.1:n.84-14105A>T
ENST00000563917.1:n.209A>T
ENST00000564752.1:c.428A>T	ENSP00000457822.1:p.Gln143Leu
ENST00000565471.5:c.84-1974A>T	ENSP00000457384.1:n.84-1974A>T
ENST00000566347.5:c.298-415A>T	ENSP00000457783.1:n.298-415A>T
ENST00000567060.5:c.298-2013A>T	ENSP00000454818.1:n.298-2013A>T
NM_017882.2:c.428A>T	NP_060352.1:p.Gln143Leu
XR_931861.1:n.531A>T
NM_017882.3:c.428A>T MANE Select	NP_060352.1:p.Gln143Leu