Canonical Allele Identifier: CA392973012

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502077A>C (hg19) ; chr15:g.68209739A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209739A>C , CM000677.2:g.68209739A>C	GRCh38
NC_000015.9:g.68502077A>C , CM000677.1:g.68502077A>C	GRCh37
NC_000015.8:g.66289131A>C	NCBI36
NG_008764.2:g.52473T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.563T>G MANE Select	ENSP00000249806.5:p.Ile188Ser
ENST00000562767.2:c.84-12111T>G	ENSP00000456336.1:n.84-12111T>G
ENST00000563917.2:n.405T>G
ENST00000565471.6:c.104T>G	ENSP00000457384.1:p.Ile35Ser
ENST00000635747.1:c.*466T>G	ENSP00000490627.1:n.*466T>G
ENST00000636212.1:c.*233T>G	ENSP00000489851.1:n.*233T>G
ENST00000636314.1:c.259T>G	ENSP00000490295.1:p.Ser87Ala
ENST00000636674.1:n.1665T>G
ENST00000636964.1:n.2091T>G
ENST00000637054.1:c.198+8797T>G	ENSP00000490807.1:n.198+8797T>G
ENST00000637223.1:c.*277T>G	ENSP00000490010.1:n.*277T>G
ENST00000637329.1:c.532T>G
ENST00000637450.1:c.*217T>G	ENSP00000490204.1:n.*217T>G
ENST00000637494.1:c.275T>G	ENSP00000490057.1:p.Ile92Ser
ENST00000637667.1:c.464T>G	ENSP00000489843.1:p.Ile155Ser
ENST00000637823.1:c.388T>G
ENST00000637888.1:c.198+8797T>G	ENSP00000490546.1:n.198+8797T>G
ENST00000638076.1:c.*166T>G	ENSP00000490373.1:n.*166T>G
ENST00000638144.1:n.206T>G
ENST00000646164.1:c.38+8797T>G
ENST00000249806.9:c.563T>G	ENSP00000249806.5:p.Ile188Ser
ENST00000538696.5:c.659T>G	ENSP00000445770.1:p.Ile220Ser
ENST00000562767.1:c.84-12111T>G	ENSP00000456336.1:n.84-12111T>G
ENST00000563917.1:n.463T>G
ENST00000564752.1:c.589T>G	ENSP00000457822.1:p.Ser197Ala
ENST00000565471.5:c.104T>G	ENSP00000457384.1:p.Ile35Ser
ENST00000566347.5:c.374T>G	ENSP00000457783.1:p.Ile125Ser
ENST00000567060.5:c.298-19T>G	ENSP00000454818.1:n.298-19T>G
NM_017882.2:c.563T>G	NP_060352.1:p.Ile188Ser
XR_931861.1:n.785T>G
NM_017882.3:c.563T>G MANE Select	NP_060352.1:p.Ile188Ser