Canonical Allele Identifier: CA392973036

Gene: CLN6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.555C>A MANE Select	ENSP00000249806.5:p.Phe185Leu
ENST00000562767.2:c.84-12119C>A	ENSP00000456336.1:n.84-12119C>A
ENST00000563917.2:n.397C>A
ENST00000565471.6:c.96C>A	ENSP00000457384.1:p.Phe32Leu
ENST00000635747.1:c.*458C>A	ENSP00000490627.1:n.*458C>A
ENST00000636212.1:c.*225C>A	ENSP00000489851.1:n.*225C>A
ENST00000636314.1:c.251C>A	ENSP00000490295.1:p.Ser84Tyr
ENST00000636674.1:n.1657C>A
ENST00000636964.1:n.2083C>A
ENST00000637054.1:c.198+8789C>A	ENSP00000490807.1:n.198+8789C>A
ENST00000637223.1:c.*269C>A	ENSP00000490010.1:n.*269C>A
ENST00000637329.1:c.524C>A
ENST00000637450.1:c.*209C>A	ENSP00000490204.1:n.*209C>A
ENST00000637494.1:c.267C>A	ENSP00000490057.1:p.Phe89Leu
ENST00000637667.1:c.456C>A	ENSP00000489843.1:p.Phe152Leu
ENST00000637823.1:c.380C>A
ENST00000637888.1:c.198+8789C>A	ENSP00000490546.1:n.198+8789C>A
ENST00000638076.1:c.*158C>A	ENSP00000490373.1:n.*158C>A
ENST00000638144.1:n.198C>A
ENST00000646164.1:c.38+8789C>A
ENST00000249806.9:c.555C>A	ENSP00000249806.5:p.Phe185Leu
ENST00000538696.5:c.651C>A	ENSP00000445770.1:p.Phe217Leu
ENST00000562767.1:c.84-12119C>A	ENSP00000456336.1:n.84-12119C>A
ENST00000563917.1:n.455C>A
ENST00000564752.1:c.581C>A	ENSP00000457822.1:p.Ser194Tyr
ENST00000565471.5:c.96C>A	ENSP00000457384.1:p.Phe32Leu
ENST00000566347.5:c.366C>A	ENSP00000457783.1:p.Phe122Leu
ENST00000567060.5:c.298-27C>A	ENSP00000454818.1:n.298-27C>A
NM_017882.2:c.555C>A	NP_060352.1:p.Phe185Leu
XR_931861.1:n.777C>A
NM_017882.3:c.555C>A MANE Select	NP_060352.1:p.Phe185Leu