Canonical Allele Identifier: CA7630480

Gene: CLN6

Linked Data

• ClinVar Variation Id: 527736
• ClinVar RCV Id: RCV000632688
• dbSNP Id: rs377192977
• ExAC: 15:68500681 C / T
• gnomAD v2: 15-68500681-C-T
• gnomAD v3: 15-68208343-C-T
• gnomAD v4: 15-68208343-C-T
• MyVariant Identifiers: chr15:g.68500681C>T (hg19) ; chr15:g.68208343C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.733G>A MANE Select	ENSP00000249806.5:p.Val245Ile
ENST00000562767.2:c.84-10715G>A	ENSP00000456336.1:n.84-10715G>A
ENST00000565471.6:c.274G>A	ENSP00000457384.1:p.Val92Ile
ENST00000635747.1:c.*636G>A	ENSP00000490627.1:n.*636G>A
ENST00000636212.1:c.*403G>A	ENSP00000489851.1:n.*403G>A
ENST00000636674.1:n.1835G>A
ENST00000636964.1:n.2261G>A
ENST00000637054.1:c.198+10193G>A	ENSP00000490807.1:n.198+10193G>A
ENST00000637329.1:c.702G>A
ENST00000637450.1:c.*387G>A	ENSP00000490204.1:n.*387G>A
ENST00000637494.1:c.445G>A	ENSP00000490057.1:p.Val149Ile
ENST00000637667.1:c.634G>A	ENSP00000489843.1:p.Val212Ile
ENST00000637823.1:c.558G>A
ENST00000637888.1:c.198+10193G>A	ENSP00000490546.1:n.198+10193G>A
ENST00000638076.1:c.*336G>A	ENSP00000490373.1:n.*336G>A
ENST00000638144.1:n.376G>A
ENST00000646164.1:c.39-8662G>A
ENST00000249806.9:c.733G>A	ENSP00000249806.5:p.Val245Ile
ENST00000538696.5:c.829G>A	ENSP00000445770.1:p.Val277Ile
ENST00000562767.1:c.84-10715G>A	ENSP00000456336.1:n.84-10715G>A
ENST00000564752.1:c.*117G>A	ENSP00000457822.1:n.*117G>A
ENST00000565471.5:c.274G>A	ENSP00000457384.1:p.Val92Ile
ENST00000566347.5:c.544G>A	ENSP00000457783.1:p.Val182Ile
ENST00000567060.5:c.*131G>A	ENSP00000454818.1:n.*131G>A
NM_017882.2:c.733G>A	NP_060352.1:p.Val245Ile
NM_017882.3:c.733G>A MANE Select	NP_060352.1:p.Val245Ile