Canonical Allele Identifier: CA392972089

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500678G>C (hg19) ; chr15:g.68208340G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208340G>C , CM000677.2:g.68208340G>C	GRCh38
NC_000015.9:g.68500678G>C , CM000677.1:g.68500678G>C	GRCh37
NC_000015.8:g.66287732G>C	NCBI36
NG_008764.2:g.53872C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.736C>G MANE Select	ENSP00000249806.5:p.Leu246Val
ENST00000562767.2:c.84-10712C>G	ENSP00000456336.1:n.84-10712C>G
ENST00000565471.6:c.277C>G	ENSP00000457384.1:p.Leu93Val
ENST00000635747.1:c.*639C>G	ENSP00000490627.1:n.*639C>G
ENST00000636212.1:c.*406C>G	ENSP00000489851.1:n.*406C>G
ENST00000636674.1:n.1838C>G
ENST00000636964.1:n.2264C>G
ENST00000637054.1:c.198+10196C>G	ENSP00000490807.1:n.198+10196C>G
ENST00000637329.1:c.705C>G
ENST00000637450.1:c.*390C>G	ENSP00000490204.1:n.*390C>G
ENST00000637494.1:c.448C>G	ENSP00000490057.1:p.Leu150Val
ENST00000637667.1:c.637C>G	ENSP00000489843.1:p.Leu213Val
ENST00000637823.1:c.561C>G
ENST00000637888.1:c.198+10196C>G	ENSP00000490546.1:n.198+10196C>G
ENST00000638076.1:c.*339C>G	ENSP00000490373.1:n.*339C>G
ENST00000638144.1:n.379C>G
ENST00000646164.1:c.39-8659C>G
ENST00000249806.9:c.736C>G	ENSP00000249806.5:p.Leu246Val
ENST00000538696.5:c.832C>G	ENSP00000445770.1:p.Leu278Val
ENST00000562767.1:c.84-10712C>G	ENSP00000456336.1:n.84-10712C>G
ENST00000564752.1:c.*120C>G	ENSP00000457822.1:n.*120C>G
ENST00000565471.5:c.277C>G	ENSP00000457384.1:p.Leu93Val
ENST00000566347.5:c.547C>G	ENSP00000457783.1:p.Leu183Val
ENST00000567060.5:c.*134C>G	ENSP00000454818.1:n.*134C>G
NM_017882.2:c.736C>G	NP_060352.1:p.Leu246Val
NM_017882.3:c.736C>G MANE Select	NP_060352.1:p.Leu246Val