Canonical Allele Identifier: CA392972798

Gene: CLN6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.655C>G MANE Select	ENSP00000249806.5:p.Leu219Val
ENST00000562767.2:c.84-12019C>G	ENSP00000456336.1:n.84-12019C>G
ENST00000563917.2:n.497C>G
ENST00000565471.6:c.196C>G	ENSP00000457384.1:p.Leu66Val
ENST00000635747.1:c.*558C>G	ENSP00000490627.1:n.*558C>G
ENST00000636212.1:c.*325C>G	ENSP00000489851.1:n.*325C>G
ENST00000636674.1:n.1757C>G
ENST00000636964.1:n.2183C>G
ENST00000637054.1:c.198+8889C>G	ENSP00000490807.1:n.198+8889C>G
ENST00000637329.1:c.624C>G
ENST00000637450.1:c.*309C>G	ENSP00000490204.1:n.*309C>G
ENST00000637494.1:c.367C>G	ENSP00000490057.1:p.Leu123Val
ENST00000637667.1:c.556C>G	ENSP00000489843.1:p.Leu186Val
ENST00000637823.1:c.480C>G
ENST00000637888.1:c.198+8889C>G	ENSP00000490546.1:n.198+8889C>G
ENST00000638076.1:c.*258C>G	ENSP00000490373.1:n.*258C>G
ENST00000638144.1:n.298C>G
ENST00000646164.1:c.38+8889C>G
ENST00000249806.9:c.655C>G	ENSP00000249806.5:p.Leu219Val
ENST00000538696.5:c.751C>G	ENSP00000445770.1:p.Leu251Val
ENST00000562767.1:c.84-12019C>G	ENSP00000456336.1:n.84-12019C>G
ENST00000563917.1:n.555C>G
ENST00000564752.1:c.*39C>G	ENSP00000457822.1:n.*39C>G
ENST00000565471.5:c.196C>G	ENSP00000457384.1:p.Leu66Val
ENST00000566347.5:c.466C>G	ENSP00000457783.1:p.Leu156Val
ENST00000567060.5:c.*53C>G	ENSP00000454818.1:n.*53C>G
NM_017882.2:c.655C>G	NP_060352.1:p.Leu219Val
XR_931861.1:n.877C>G
NM_017882.3:c.655C>G MANE Select	NP_060352.1:p.Leu219Val