Canonical Allele Identifier: CA392972866

Gene: CLN6

Linked Data

• dbSNP Id: rs2141137245
• MyVariant Identifiers: chr15:g.68502022A>C (hg19) ; chr15:g.68209684A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209684A>C , CM000677.2:g.68209684A>C	GRCh38
NC_000015.9:g.68502022A>C , CM000677.1:g.68502022A>C	GRCh37
NC_000015.8:g.66289076A>C	NCBI36
NG_008764.2:g.52528T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.618T>G MANE Select	ENSP00000249806.5:p.Ile206Met
ENST00000562767.2:c.84-12056T>G	ENSP00000456336.1:n.84-12056T>G
ENST00000563917.2:n.460T>G
ENST00000565471.6:c.159T>G	ENSP00000457384.1:p.Ile53Met
ENST00000635747.1:c.*521T>G	ENSP00000490627.1:n.*521T>G
ENST00000636212.1:c.*288T>G	ENSP00000489851.1:n.*288T>G
ENST00000636314.1:c.*2T>G	ENSP00000490295.1:n.*2T>G
ENST00000636674.1:n.1720T>G
ENST00000636964.1:n.2146T>G
ENST00000637054.1:c.198+8852T>G	ENSP00000490807.1:n.198+8852T>G
ENST00000637329.1:c.587T>G
ENST00000637450.1:c.*272T>G	ENSP00000490204.1:n.*272T>G
ENST00000637494.1:c.330T>G	ENSP00000490057.1:p.Ile110Met
ENST00000637667.1:c.519T>G	ENSP00000489843.1:p.Ile173Met
ENST00000637823.1:c.443T>G
ENST00000637888.1:c.198+8852T>G	ENSP00000490546.1:n.198+8852T>G
ENST00000638076.1:c.*221T>G	ENSP00000490373.1:n.*221T>G
ENST00000638144.1:n.261T>G
ENST00000646164.1:c.38+8852T>G
ENST00000249806.9:c.618T>G	ENSP00000249806.5:p.Ile206Met
ENST00000538696.5:c.714T>G	ENSP00000445770.1:p.Ile238Met
ENST00000562767.1:c.84-12056T>G	ENSP00000456336.1:n.84-12056T>G
ENST00000563917.1:n.518T>G
ENST00000564752.1:c.*2T>G	ENSP00000457822.1:n.*2T>G
ENST00000565471.5:c.159T>G	ENSP00000457384.1:p.Ile53Met
ENST00000566347.5:c.429T>G	ENSP00000457783.1:p.Ile143Met
ENST00000567060.5:c.*16T>G	ENSP00000454818.1:n.*16T>G
NM_017882.2:c.618T>G	NP_060352.1:p.Ile206Met
XR_931861.1:n.840T>G
NM_017882.3:c.618T>G MANE Select	NP_060352.1:p.Ile206Met