Canonical Allele Identifier: CA392972832

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502003G>C (hg19) ; chr15:g.68209665G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209665G>C , CM000677.2:g.68209665G>C	GRCh38
NC_000015.9:g.68502003G>C , CM000677.1:g.68502003G>C	GRCh37
NC_000015.8:g.66289057G>C	NCBI36
NG_008764.2:g.52547C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.637C>G MANE Select	ENSP00000249806.5:p.Leu213Val
ENST00000562767.2:c.84-12037C>G	ENSP00000456336.1:n.84-12037C>G
ENST00000563917.2:n.479C>G
ENST00000565471.6:c.178C>G	ENSP00000457384.1:p.Leu60Val
ENST00000635747.1:c.*540C>G	ENSP00000490627.1:n.*540C>G
ENST00000636212.1:c.*307C>G	ENSP00000489851.1:n.*307C>G
ENST00000636674.1:n.1739C>G
ENST00000636964.1:n.2165C>G
ENST00000637054.1:c.198+8871C>G	ENSP00000490807.1:n.198+8871C>G
ENST00000637329.1:c.606C>G
ENST00000637450.1:c.*291C>G	ENSP00000490204.1:n.*291C>G
ENST00000637494.1:c.349C>G	ENSP00000490057.1:p.Leu117Val
ENST00000637667.1:c.538C>G	ENSP00000489843.1:p.Leu180Val
ENST00000637823.1:c.462C>G
ENST00000637888.1:c.198+8871C>G	ENSP00000490546.1:n.198+8871C>G
ENST00000638076.1:c.*240C>G	ENSP00000490373.1:n.*240C>G
ENST00000638144.1:n.280C>G
ENST00000646164.1:c.38+8871C>G
ENST00000249806.9:c.637C>G	ENSP00000249806.5:p.Leu213Val
ENST00000538696.5:c.733C>G	ENSP00000445770.1:p.Leu245Val
ENST00000562767.1:c.84-12037C>G	ENSP00000456336.1:n.84-12037C>G
ENST00000563917.1:n.537C>G
ENST00000564752.1:c.*21C>G	ENSP00000457822.1:n.*21C>G
ENST00000565471.5:c.178C>G	ENSP00000457384.1:p.Leu60Val
ENST00000566347.5:c.448C>G	ENSP00000457783.1:p.Leu150Val
ENST00000567060.5:c.*35C>G	ENSP00000454818.1:n.*35C>G
NM_017882.2:c.637C>G	NP_060352.1:p.Leu213Val
XR_931861.1:n.859C>G
NM_017882.3:c.637C>G MANE Select	NP_060352.1:p.Leu213Val