Canonical Allele Identifier: CA491100065

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500709G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208371G>T , CM000677.2:g.68208371G>T	GRCh38
NC_000015.9:g.68500709G>T , CM000677.1:g.68500709G>T	GRCh37
NC_000015.8:g.66287763G>T	NCBI36
NG_008764.2:g.53841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.705C>A MANE Select	ENSP00000249806.5:p.Ile235=
ENST00000562767.2:c.84-10743C>A	ENSP00000456336.1:n.84-10743C>A
ENST00000563917.2:n.547C>A
ENST00000565471.6:c.246C>A	ENSP00000457384.1:p.Ile82=
ENST00000635747.1:c.*608C>A	ENSP00000490627.1:n.*608C>A
ENST00000636212.1:c.*375C>A	ENSP00000489851.1:n.*375C>A
ENST00000636674.1:n.1807C>A
ENST00000636964.1:n.2233C>A
ENST00000637054.1:c.198+10165C>A	ENSP00000490807.1:n.198+10165C>A
ENST00000637329.1:c.674C>A
ENST00000637450.1:c.*359C>A	ENSP00000490204.1:n.*359C>A
ENST00000637494.1:c.417C>A	ENSP00000490057.1:p.Ile139=
ENST00000637667.1:c.606C>A	ENSP00000489843.1:p.Ile202=
ENST00000637823.1:c.530C>A
ENST00000637888.1:c.198+10165C>A	ENSP00000490546.1:n.198+10165C>A
ENST00000638076.1:c.*308C>A	ENSP00000490373.1:n.*308C>A
ENST00000638144.1:n.348C>A
ENST00000646164.1:c.39-8690C>A
ENST00000249806.9:c.705C>A	ENSP00000249806.5:p.Ile235=
ENST00000538696.5:c.801C>A	ENSP00000445770.1:p.Ile267=
ENST00000562767.1:c.84-10743C>A	ENSP00000456336.1:n.84-10743C>A
ENST00000564752.1:c.*89C>A	ENSP00000457822.1:n.*89C>A
ENST00000565471.5:c.246C>A	ENSP00000457384.1:p.Ile82=
ENST00000566347.5:c.516C>A	ENSP00000457783.1:p.Ile172=
ENST00000567060.5:c.*103C>A	ENSP00000454818.1:n.*103C>A
NM_017882.2:c.705C>A	NP_060352.1:p.Ile235=
NM_017882.3:c.705C>A MANE Select	NP_060352.1:p.Ile235=