Canonical Allele Identifier: CA392973586

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504145G>C (hg19) ; chr15:g.68211807G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211807G>C , CM000677.2:g.68211807G>C	GRCh38
NC_000015.9:g.68504145G>C , CM000677.1:g.68504145G>C	GRCh37
NC_000015.8:g.66291199G>C	NCBI36
NG_008764.2:g.50405C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.354C>G MANE Select	ENSP00000249806.5:p.Ile118Met
ENST00000562767.2:c.84-14179C>G	ENSP00000456336.1:n.84-14179C>G
ENST00000563917.2:n.196C>G
ENST00000565471.6:c.84-2048C>G	ENSP00000457384.1:n.84-2048C>G
ENST00000635747.1:c.*257C>G	ENSP00000490627.1:n.*257C>G
ENST00000636212.1:c.298-66C>G	ENSP00000489851.1:n.298-66C>G
ENST00000636314.1:c.183-489C>G	ENSP00000490295.1:n.183-489C>G
ENST00000636674.1:n.1337C>G
ENST00000636964.1:n.1526C>G
ENST00000637054.1:c.198+6729C>G	ENSP00000490807.1:n.198+6729C>G
ENST00000637223.1:c.*201-489C>G	ENSP00000490010.1:n.*201-489C>G
ENST00000637329.1:c.323C>G
ENST00000637450.1:c.*8C>G	ENSP00000490204.1:n.*8C>G
ENST00000637494.1:c.199-489C>G	ENSP00000490057.1:n.199-489C>G
ENST00000637667.1:c.255C>G	ENSP00000489843.1:p.Ile85Met
ENST00000637823.1:c.224-164C>G
ENST00000637888.1:c.198+6729C>G	ENSP00000490546.1:n.198+6729C>G
ENST00000638076.1:c.354C>G	ENSP00000490373.1:p.Ile118Met
ENST00000638144.1:n.130-489C>G
ENST00000646164.1:c.38+6729C>G
ENST00000249806.9:c.354C>G	ENSP00000249806.5:p.Ile118Met
ENST00000538696.5:c.450C>G	ENSP00000445770.1:p.Ile150Met
ENST00000562767.1:c.84-14179C>G	ENSP00000456336.1:n.84-14179C>G
ENST00000563917.1:n.135C>G
ENST00000564752.1:c.354C>G	ENSP00000457822.1:p.Ile118Met
ENST00000565471.5:c.84-2048C>G	ENSP00000457384.1:n.84-2048C>G
ENST00000566347.5:c.298-489C>G	ENSP00000457783.1:n.298-489C>G
ENST00000567060.5:c.298-2087C>G	ENSP00000454818.1:n.298-2087C>G
NM_017882.2:c.354C>G	NP_060352.1:p.Ile118Met
XR_931861.1:n.457C>G
NM_017882.3:c.354C>G MANE Select	NP_060352.1:p.Ile118Met