Canonical Allele Identifier: CA392972064

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500672G>T (hg19) ; chr15:g.68208334G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208334G>T , CM000677.2:g.68208334G>T	GRCh38
NC_000015.9:g.68500672G>T , CM000677.1:g.68500672G>T	GRCh37
NC_000015.8:g.66287726G>T	NCBI36
NG_008764.2:g.53878C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.742C>A MANE Select	ENSP00000249806.5:p.Gln248Lys
ENST00000562767.2:c.84-10706C>A	ENSP00000456336.1:n.84-10706C>A
ENST00000565471.6:c.283C>A	ENSP00000457384.1:p.Gln95Lys
ENST00000635747.1:c.*645C>A	ENSP00000490627.1:n.*645C>A
ENST00000636212.1:c.*412C>A	ENSP00000489851.1:n.*412C>A
ENST00000636674.1:n.1844C>A
ENST00000636964.1:n.2270C>A
ENST00000637054.1:c.198+10202C>A	ENSP00000490807.1:n.198+10202C>A
ENST00000637329.1:c.711C>A
ENST00000637450.1:c.*396C>A	ENSP00000490204.1:n.*396C>A
ENST00000637494.1:c.454C>A	ENSP00000490057.1:p.Gln152Lys
ENST00000637667.1:c.643C>A	ENSP00000489843.1:p.Gln215Lys
ENST00000637823.1:c.567C>A
ENST00000637888.1:c.198+10202C>A	ENSP00000490546.1:n.198+10202C>A
ENST00000638076.1:c.*345C>A	ENSP00000490373.1:n.*345C>A
ENST00000638144.1:n.385C>A
ENST00000646164.1:c.39-8653C>A
ENST00000249806.9:c.742C>A	ENSP00000249806.5:p.Gln248Lys
ENST00000538696.5:c.838C>A	ENSP00000445770.1:p.Gln280Lys
ENST00000562767.1:c.84-10706C>A	ENSP00000456336.1:n.84-10706C>A
ENST00000564752.1:c.*126C>A	ENSP00000457822.1:n.*126C>A
ENST00000565471.5:c.283C>A	ENSP00000457384.1:p.Gln95Lys
ENST00000566347.5:c.553C>A	ENSP00000457783.1:p.Gln185Lys
ENST00000567060.5:c.*140C>A	ENSP00000454818.1:n.*140C>A
NM_017882.2:c.742C>A	NP_060352.1:p.Gln248Lys
NM_017882.3:c.742C>A MANE Select	NP_060352.1:p.Gln248Lys