Canonical Allele Identifier: CA392972236

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500712G>C (hg19) ; chr15:g.68208374G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208374G>C , CM000677.2:g.68208374G>C	GRCh38
NC_000015.9:g.68500712G>C , CM000677.1:g.68500712G>C	GRCh37
NC_000015.8:g.66287766G>C	NCBI36
NG_008764.2:g.53838C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.702C>G MANE Select	ENSP00000249806.5:p.Phe234Leu
ENST00000562767.2:c.84-10746C>G	ENSP00000456336.1:n.84-10746C>G
ENST00000563917.2:n.544C>G
ENST00000565471.6:c.243C>G	ENSP00000457384.1:p.Phe81Leu
ENST00000635747.1:c.*605C>G	ENSP00000490627.1:n.*605C>G
ENST00000636212.1:c.*372C>G	ENSP00000489851.1:n.*372C>G
ENST00000636674.1:n.1804C>G
ENST00000636964.1:n.2230C>G
ENST00000637054.1:c.198+10162C>G	ENSP00000490807.1:n.198+10162C>G
ENST00000637329.1:c.671C>G
ENST00000637450.1:c.*356C>G	ENSP00000490204.1:n.*356C>G
ENST00000637494.1:c.414C>G	ENSP00000490057.1:p.Phe138Leu
ENST00000637667.1:c.603C>G	ENSP00000489843.1:p.Phe201Leu
ENST00000637823.1:c.527C>G
ENST00000637888.1:c.198+10162C>G	ENSP00000490546.1:n.198+10162C>G
ENST00000638076.1:c.*305C>G	ENSP00000490373.1:n.*305C>G
ENST00000638144.1:n.345C>G
ENST00000646164.1:c.39-8693C>G
ENST00000249806.9:c.702C>G	ENSP00000249806.5:p.Phe234Leu
ENST00000538696.5:c.798C>G	ENSP00000445770.1:p.Phe266Leu
ENST00000562767.1:c.84-10746C>G	ENSP00000456336.1:n.84-10746C>G
ENST00000564752.1:c.*86C>G	ENSP00000457822.1:n.*86C>G
ENST00000565471.5:c.243C>G	ENSP00000457384.1:p.Phe81Leu
ENST00000566347.5:c.513C>G	ENSP00000457783.1:p.Phe171Leu
ENST00000567060.5:c.*100C>G	ENSP00000454818.1:n.*100C>G
NM_017882.2:c.702C>G	NP_060352.1:p.Phe234Leu
NM_017882.3:c.702C>G MANE Select	NP_060352.1:p.Phe234Leu