Canonical Allele Identifier: CA392972258

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500717G>T (hg19) ; chr15:g.68208379G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208379G>T , CM000677.2:g.68208379G>T	GRCh38
NC_000015.9:g.68500717G>T , CM000677.1:g.68500717G>T	GRCh37
NC_000015.8:g.66287771G>T	NCBI36
NG_008764.2:g.53833C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.697C>A MANE Select	ENSP00000249806.5:p.Leu233Ile
ENST00000562767.2:c.84-10751C>A	ENSP00000456336.1:n.84-10751C>A
ENST00000563917.2:n.539C>A
ENST00000565471.6:c.238C>A	ENSP00000457384.1:p.Leu80Ile
ENST00000635747.1:c.*600C>A	ENSP00000490627.1:n.*600C>A
ENST00000636212.1:c.*367C>A	ENSP00000489851.1:n.*367C>A
ENST00000636674.1:n.1799C>A
ENST00000636964.1:n.2225C>A
ENST00000637054.1:c.198+10157C>A	ENSP00000490807.1:n.198+10157C>A
ENST00000637329.1:c.666C>A
ENST00000637450.1:c.*351C>A	ENSP00000490204.1:n.*351C>A
ENST00000637494.1:c.409C>A	ENSP00000490057.1:p.Leu137Ile
ENST00000637667.1:c.598C>A	ENSP00000489843.1:p.Leu200Ile
ENST00000637823.1:c.522C>A
ENST00000637888.1:c.198+10157C>A	ENSP00000490546.1:n.198+10157C>A
ENST00000638076.1:c.*300C>A	ENSP00000490373.1:n.*300C>A
ENST00000638144.1:n.340C>A
ENST00000646164.1:c.39-8698C>A
ENST00000249806.9:c.697C>A	ENSP00000249806.5:p.Leu233Ile
ENST00000538696.5:c.793C>A	ENSP00000445770.1:p.Leu265Ile
ENST00000562767.1:c.84-10751C>A	ENSP00000456336.1:n.84-10751C>A
ENST00000564752.1:c.*81C>A	ENSP00000457822.1:n.*81C>A
ENST00000565471.5:c.238C>A	ENSP00000457384.1:p.Leu80Ile
ENST00000566347.5:c.508C>A	ENSP00000457783.1:p.Leu170Ile
ENST00000567060.5:c.*95C>A	ENSP00000454818.1:n.*95C>A
NM_017882.2:c.697C>A	NP_060352.1:p.Leu233Ile
NM_017882.3:c.697C>A MANE Select	NP_060352.1:p.Leu233Ile