Canonical Allele Identifier: CA392972799

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501985G>T (hg19) ; chr15:g.68209647G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209647G>T , CM000677.2:g.68209647G>T	GRCh38
NC_000015.9:g.68501985G>T , CM000677.1:g.68501985G>T	GRCh37
NC_000015.8:g.66289039G>T	NCBI36
NG_008764.2:g.52565C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.655C>A MANE Select	ENSP00000249806.5:p.Leu219Met
ENST00000562767.2:c.84-12019C>A	ENSP00000456336.1:n.84-12019C>A
ENST00000563917.2:n.497C>A
ENST00000565471.6:c.196C>A	ENSP00000457384.1:p.Leu66Met
ENST00000635747.1:c.*558C>A	ENSP00000490627.1:n.*558C>A
ENST00000636212.1:c.*325C>A	ENSP00000489851.1:n.*325C>A
ENST00000636674.1:n.1757C>A
ENST00000636964.1:n.2183C>A
ENST00000637054.1:c.198+8889C>A	ENSP00000490807.1:n.198+8889C>A
ENST00000637329.1:c.624C>A
ENST00000637450.1:c.*309C>A	ENSP00000490204.1:n.*309C>A
ENST00000637494.1:c.367C>A	ENSP00000490057.1:p.Leu123Met
ENST00000637667.1:c.556C>A	ENSP00000489843.1:p.Leu186Met
ENST00000637823.1:c.480C>A
ENST00000637888.1:c.198+8889C>A	ENSP00000490546.1:n.198+8889C>A
ENST00000638076.1:c.*258C>A	ENSP00000490373.1:n.*258C>A
ENST00000638144.1:n.298C>A
ENST00000646164.1:c.38+8889C>A
ENST00000249806.9:c.655C>A	ENSP00000249806.5:p.Leu219Met
ENST00000538696.5:c.751C>A	ENSP00000445770.1:p.Leu251Met
ENST00000562767.1:c.84-12019C>A	ENSP00000456336.1:n.84-12019C>A
ENST00000563917.1:n.555C>A
ENST00000564752.1:c.*39C>A	ENSP00000457822.1:n.*39C>A
ENST00000565471.5:c.196C>A	ENSP00000457384.1:p.Leu66Met
ENST00000566347.5:c.466C>A	ENSP00000457783.1:p.Leu156Met
ENST00000567060.5:c.*53C>A	ENSP00000454818.1:n.*53C>A
NM_017882.2:c.655C>A	NP_060352.1:p.Leu219Met
XR_931861.1:n.877C>A
NM_017882.3:c.655C>A MANE Select	NP_060352.1:p.Leu219Met