Canonical Allele Identifier: CA392973035

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502085G>C (hg19) ; chr15:g.68209747G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209747G>C , CM000677.2:g.68209747G>C	GRCh38
NC_000015.9:g.68502085G>C , CM000677.1:g.68502085G>C	GRCh37
NC_000015.8:g.66289139G>C	NCBI36
NG_008764.2:g.52465C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.555C>G MANE Select	ENSP00000249806.5:p.Phe185Leu
ENST00000562767.2:c.84-12119C>G	ENSP00000456336.1:n.84-12119C>G
ENST00000563917.2:n.397C>G
ENST00000565471.6:c.96C>G	ENSP00000457384.1:p.Phe32Leu
ENST00000635747.1:c.*458C>G	ENSP00000490627.1:n.*458C>G
ENST00000636212.1:c.*225C>G	ENSP00000489851.1:n.*225C>G
ENST00000636314.1:c.251C>G	ENSP00000490295.1:p.Ser84Cys
ENST00000636674.1:n.1657C>G
ENST00000636964.1:n.2083C>G
ENST00000637054.1:c.198+8789C>G	ENSP00000490807.1:n.198+8789C>G
ENST00000637223.1:c.*269C>G	ENSP00000490010.1:n.*269C>G
ENST00000637329.1:c.524C>G
ENST00000637450.1:c.*209C>G	ENSP00000490204.1:n.*209C>G
ENST00000637494.1:c.267C>G	ENSP00000490057.1:p.Phe89Leu
ENST00000637667.1:c.456C>G	ENSP00000489843.1:p.Phe152Leu
ENST00000637823.1:c.380C>G
ENST00000637888.1:c.198+8789C>G	ENSP00000490546.1:n.198+8789C>G
ENST00000638076.1:c.*158C>G	ENSP00000490373.1:n.*158C>G
ENST00000638144.1:n.198C>G
ENST00000646164.1:c.38+8789C>G
ENST00000249806.9:c.555C>G	ENSP00000249806.5:p.Phe185Leu
ENST00000538696.5:c.651C>G	ENSP00000445770.1:p.Phe217Leu
ENST00000562767.1:c.84-12119C>G	ENSP00000456336.1:n.84-12119C>G
ENST00000563917.1:n.455C>G
ENST00000564752.1:c.581C>G	ENSP00000457822.1:p.Ser194Cys
ENST00000565471.5:c.96C>G	ENSP00000457384.1:p.Phe32Leu
ENST00000566347.5:c.366C>G	ENSP00000457783.1:p.Phe122Leu
ENST00000567060.5:c.298-27C>G	ENSP00000454818.1:n.298-27C>G
NM_017882.2:c.555C>G	NP_060352.1:p.Phe185Leu
XR_931861.1:n.777C>G
NM_017882.3:c.555C>G MANE Select	NP_060352.1:p.Phe185Leu