Canonical Allele Identifier: CA392972856

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1384258
• ClinVar RCV Id: RCV001895857
• dbSNP Id: rs2141137239
• MyVariant Identifiers: chr15:g.68502017C>T (hg19) ; chr15:g.68209679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209679C>T , CM000677.2:g.68209679C>T	GRCh38
NC_000015.9:g.68502017C>T , CM000677.1:g.68502017C>T	GRCh37
NC_000015.8:g.66289071C>T	NCBI36
NG_008764.2:g.52533G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.623G>A MANE Select	ENSP00000249806.5:p.Gly208Glu
ENST00000562767.2:c.84-12051G>A	ENSP00000456336.1:n.84-12051G>A
ENST00000563917.2:n.465G>A
ENST00000565471.6:c.164G>A	ENSP00000457384.1:p.Gly55Glu
ENST00000635747.1:c.*526G>A	ENSP00000490627.1:n.*526G>A
ENST00000636212.1:c.*293G>A	ENSP00000489851.1:n.*293G>A
ENST00000636314.1:c.*7G>A	ENSP00000490295.1:n.*7G>A
ENST00000636674.1:n.1725G>A
ENST00000636964.1:n.2151G>A
ENST00000637054.1:c.198+8857G>A	ENSP00000490807.1:n.198+8857G>A
ENST00000637329.1:c.592G>A
ENST00000637450.1:c.*277G>A	ENSP00000490204.1:n.*277G>A
ENST00000637494.1:c.335G>A	ENSP00000490057.1:p.Gly112Glu
ENST00000637667.1:c.524G>A	ENSP00000489843.1:p.Gly175Glu
ENST00000637823.1:c.448G>A
ENST00000637888.1:c.198+8857G>A	ENSP00000490546.1:n.198+8857G>A
ENST00000638076.1:c.*226G>A	ENSP00000490373.1:n.*226G>A
ENST00000638144.1:n.266G>A
ENST00000646164.1:c.38+8857G>A
ENST00000249806.9:c.623G>A	ENSP00000249806.5:p.Gly208Glu
ENST00000538696.5:c.719G>A	ENSP00000445770.1:p.Gly240Glu
ENST00000562767.1:c.84-12051G>A	ENSP00000456336.1:n.84-12051G>A
ENST00000563917.1:n.523G>A
ENST00000564752.1:c.*7G>A	ENSP00000457822.1:n.*7G>A
ENST00000565471.5:c.164G>A	ENSP00000457384.1:p.Gly55Glu
ENST00000566347.5:c.434G>A	ENSP00000457783.1:p.Gly145Glu
ENST00000567060.5:c.*21G>A	ENSP00000454818.1:n.*21G>A
NM_017882.2:c.623G>A	NP_060352.1:p.Gly208Glu
XR_931861.1:n.845G>A
NM_017882.3:c.623G>A MANE Select	NP_060352.1:p.Gly208Glu