Canonical Allele Identifier: CA392973011

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502076G>C (hg19) ; chr15:g.68209738G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209738G>C , CM000677.2:g.68209738G>C	GRCh38
NC_000015.9:g.68502076G>C , CM000677.1:g.68502076G>C	GRCh37
NC_000015.8:g.66289130G>C	NCBI36
NG_008764.2:g.52474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.564C>G MANE Select	ENSP00000249806.5:p.Ile188Met
ENST00000562767.2:c.84-12110C>G	ENSP00000456336.1:n.84-12110C>G
ENST00000563917.2:n.406C>G
ENST00000565471.6:c.105C>G	ENSP00000457384.1:p.Ile35Met
ENST00000635747.1:c.*467C>G	ENSP00000490627.1:n.*467C>G
ENST00000636212.1:c.*234C>G	ENSP00000489851.1:n.*234C>G
ENST00000636314.1:c.260C>G	ENSP00000490295.1:p.Ser87Cys
ENST00000636674.1:n.1666C>G
ENST00000636964.1:n.2092C>G
ENST00000637054.1:c.198+8798C>G	ENSP00000490807.1:n.198+8798C>G
ENST00000637223.1:c.*278C>G	ENSP00000490010.1:n.*278C>G
ENST00000637329.1:c.533C>G
ENST00000637450.1:c.*218C>G	ENSP00000490204.1:n.*218C>G
ENST00000637494.1:c.276C>G	ENSP00000490057.1:p.Ile92Met
ENST00000637667.1:c.465C>G	ENSP00000489843.1:p.Ile155Met
ENST00000637823.1:c.389C>G
ENST00000637888.1:c.198+8798C>G	ENSP00000490546.1:n.198+8798C>G
ENST00000638076.1:c.*167C>G	ENSP00000490373.1:n.*167C>G
ENST00000638144.1:n.207C>G
ENST00000646164.1:c.38+8798C>G
ENST00000249806.9:c.564C>G	ENSP00000249806.5:p.Ile188Met
ENST00000538696.5:c.660C>G	ENSP00000445770.1:p.Ile220Met
ENST00000562767.1:c.84-12110C>G	ENSP00000456336.1:n.84-12110C>G
ENST00000563917.1:n.464C>G
ENST00000564752.1:c.590C>G	ENSP00000457822.1:p.Ser197Cys
ENST00000565471.5:c.105C>G	ENSP00000457384.1:p.Ile35Met
ENST00000566347.5:c.375C>G	ENSP00000457783.1:p.Ile125Met
ENST00000567060.5:c.298-18C>G	ENSP00000454818.1:n.298-18C>G
NM_017882.2:c.564C>G	NP_060352.1:p.Ile188Met
XR_931861.1:n.786C>G
NM_017882.3:c.564C>G MANE Select	NP_060352.1:p.Ile188Met