Canonical Allele Identifier: CA272382831

Gene: CLN6

Linked Data

• dbSNP Id: rs377192977
• MyVariant Identifiers: chr15:g.68500681C>A (hg19) ; chr15:g.68208343C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208343C>A , CM000677.2:g.68208343C>A	GRCh38
NC_000015.9:g.68500681C>A , CM000677.1:g.68500681C>A	GRCh37
NC_000015.8:g.66287735C>A	NCBI36
NG_008764.2:g.53869G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.733G>T MANE Select	ENSP00000249806.5:p.Val245Phe
ENST00000562767.2:c.84-10715G>T	ENSP00000456336.1:n.84-10715G>T
ENST00000565471.6:c.274G>T	ENSP00000457384.1:p.Val92Phe
ENST00000635747.1:c.*636G>T	ENSP00000490627.1:n.*636G>T
ENST00000636212.1:c.*403G>T	ENSP00000489851.1:n.*403G>T
ENST00000636674.1:n.1835G>T
ENST00000636964.1:n.2261G>T
ENST00000637054.1:c.198+10193G>T	ENSP00000490807.1:n.198+10193G>T
ENST00000637329.1:c.702G>T
ENST00000637450.1:c.*387G>T	ENSP00000490204.1:n.*387G>T
ENST00000637494.1:c.445G>T	ENSP00000490057.1:p.Val149Phe
ENST00000637667.1:c.634G>T	ENSP00000489843.1:p.Val212Phe
ENST00000637823.1:c.558G>T
ENST00000637888.1:c.198+10193G>T	ENSP00000490546.1:n.198+10193G>T
ENST00000638076.1:c.*336G>T	ENSP00000490373.1:n.*336G>T
ENST00000638144.1:n.376G>T
ENST00000646164.1:c.39-8662G>T
ENST00000249806.9:c.733G>T	ENSP00000249806.5:p.Val245Phe
ENST00000538696.5:c.829G>T	ENSP00000445770.1:p.Val277Phe
ENST00000562767.1:c.84-10715G>T	ENSP00000456336.1:n.84-10715G>T
ENST00000564752.1:c.*117G>T	ENSP00000457822.1:n.*117G>T
ENST00000565471.5:c.274G>T	ENSP00000457384.1:p.Val92Phe
ENST00000566347.5:c.544G>T	ENSP00000457783.1:p.Val182Phe
ENST00000567060.5:c.*131G>T	ENSP00000454818.1:n.*131G>T
NM_017882.2:c.733G>T	NP_060352.1:p.Val245Phe
NM_017882.3:c.733G>T MANE Select	NP_060352.1:p.Val245Phe