Canonical Allele Identifier: CA392973516

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504113A>C (hg19) ; chr15:g.68211775A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211775A>C , CM000677.2:g.68211775A>C	GRCh38
NC_000015.9:g.68504113A>C , CM000677.1:g.68504113A>C	GRCh37
NC_000015.8:g.66291167A>C	NCBI36
NG_008764.2:g.50437T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.386T>G MANE Select	ENSP00000249806.5:p.Val129Gly
ENST00000562767.2:c.84-14147T>G	ENSP00000456336.1:n.84-14147T>G
ENST00000563917.2:n.228T>G
ENST00000565471.6:c.84-2016T>G	ENSP00000457384.1:n.84-2016T>G
ENST00000635747.1:c.*289T>G	ENSP00000490627.1:n.*289T>G
ENST00000636212.1:c.298-34T>G	ENSP00000489851.1:n.298-34T>G
ENST00000636314.1:c.183-457T>G	ENSP00000490295.1:n.183-457T>G
ENST00000636674.1:n.1369T>G
ENST00000636964.1:n.1558T>G
ENST00000637054.1:c.198+6761T>G	ENSP00000490807.1:n.198+6761T>G
ENST00000637223.1:c.*201-457T>G	ENSP00000490010.1:n.*201-457T>G
ENST00000637329.1:c.355T>G
ENST00000637450.1:c.*40T>G	ENSP00000490204.1:n.*40T>G
ENST00000637494.1:c.199-457T>G	ENSP00000490057.1:n.199-457T>G
ENST00000637667.1:c.287T>G	ENSP00000489843.1:p.Val96Gly
ENST00000637823.1:c.224-132T>G
ENST00000637888.1:c.198+6761T>G	ENSP00000490546.1:n.198+6761T>G
ENST00000638076.1:c.386T>G	ENSP00000490373.1:p.Val129Gly
ENST00000638144.1:n.130-457T>G
ENST00000646164.1:c.38+6761T>G
ENST00000249806.9:c.386T>G	ENSP00000249806.5:p.Val129Gly
ENST00000538696.5:c.482T>G	ENSP00000445770.1:p.Val161Gly
ENST00000562767.1:c.84-14147T>G	ENSP00000456336.1:n.84-14147T>G
ENST00000563917.1:n.167T>G
ENST00000564752.1:c.386T>G	ENSP00000457822.1:p.Val129Gly
ENST00000565471.5:c.84-2016T>G	ENSP00000457384.1:n.84-2016T>G
ENST00000566347.5:c.298-457T>G	ENSP00000457783.1:n.298-457T>G
ENST00000567060.5:c.298-2055T>G	ENSP00000454818.1:n.298-2055T>G
NM_017882.2:c.386T>G	NP_060352.1:p.Val129Gly
XR_931861.1:n.489T>G
NM_017882.3:c.386T>G MANE Select	NP_060352.1:p.Val129Gly