Canonical Allele Identifier: CA392972254

Gene: CLN6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.697C>T MANE Select	ENSP00000249806.5:p.Leu233Phe
ENST00000562767.2:c.84-10751C>T	ENSP00000456336.1:n.84-10751C>T
ENST00000563917.2:n.539C>T
ENST00000565471.6:c.238C>T	ENSP00000457384.1:p.Leu80Phe
ENST00000635747.1:c.*600C>T	ENSP00000490627.1:n.*600C>T
ENST00000636212.1:c.*367C>T	ENSP00000489851.1:n.*367C>T
ENST00000636674.1:n.1799C>T
ENST00000636964.1:n.2225C>T
ENST00000637054.1:c.198+10157C>T	ENSP00000490807.1:n.198+10157C>T
ENST00000637329.1:c.666C>T
ENST00000637450.1:c.*351C>T	ENSP00000490204.1:n.*351C>T
ENST00000637494.1:c.409C>T	ENSP00000490057.1:p.Leu137Phe
ENST00000637667.1:c.598C>T	ENSP00000489843.1:p.Leu200Phe
ENST00000637823.1:c.522C>T
ENST00000637888.1:c.198+10157C>T	ENSP00000490546.1:n.198+10157C>T
ENST00000638076.1:c.*300C>T	ENSP00000490373.1:n.*300C>T
ENST00000638144.1:n.340C>T
ENST00000646164.1:c.39-8698C>T
ENST00000249806.9:c.697C>T	ENSP00000249806.5:p.Leu233Phe
ENST00000538696.5:c.793C>T	ENSP00000445770.1:p.Leu265Phe
ENST00000562767.1:c.84-10751C>T	ENSP00000456336.1:n.84-10751C>T
ENST00000564752.1:c.*81C>T	ENSP00000457822.1:n.*81C>T
ENST00000565471.5:c.238C>T	ENSP00000457384.1:p.Leu80Phe
ENST00000566347.5:c.508C>T	ENSP00000457783.1:p.Leu170Phe
ENST00000567060.5:c.*95C>T	ENSP00000454818.1:n.*95C>T
NM_017882.2:c.697C>T	NP_060352.1:p.Leu233Phe
NM_017882.3:c.697C>T MANE Select	NP_060352.1:p.Leu233Phe