Canonical Allele Identifier: CA490911581

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502001C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209663C>T , CM000677.2:g.68209663C>T	GRCh38
NC_000015.9:g.68502001C>T , CM000677.1:g.68502001C>T	GRCh37
NC_000015.8:g.66289055C>T	NCBI36
NG_008764.2:g.52549G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.639G>A MANE Select	ENSP00000249806.5:p.Leu213=
ENST00000562767.2:c.84-12035G>A	ENSP00000456336.1:n.84-12035G>A
ENST00000563917.2:n.481G>A
ENST00000565471.6:c.180G>A	ENSP00000457384.1:p.Leu60=
ENST00000635747.1:c.*542G>A	ENSP00000490627.1:n.*542G>A
ENST00000636212.1:c.*309G>A	ENSP00000489851.1:n.*309G>A
ENST00000636674.1:n.1741G>A
ENST00000636964.1:n.2167G>A
ENST00000637054.1:c.198+8873G>A	ENSP00000490807.1:n.198+8873G>A
ENST00000637329.1:c.608G>A
ENST00000637450.1:c.*293G>A	ENSP00000490204.1:n.*293G>A
ENST00000637494.1:c.351G>A	ENSP00000490057.1:p.Leu117=
ENST00000637667.1:c.540G>A	ENSP00000489843.1:p.Leu180=
ENST00000637823.1:c.464G>A
ENST00000637888.1:c.198+8873G>A	ENSP00000490546.1:n.198+8873G>A
ENST00000638076.1:c.*242G>A	ENSP00000490373.1:n.*242G>A
ENST00000638144.1:n.282G>A
ENST00000646164.1:c.38+8873G>A
ENST00000249806.9:c.639G>A	ENSP00000249806.5:p.Leu213=
ENST00000538696.5:c.735G>A	ENSP00000445770.1:p.Leu245=
ENST00000562767.1:c.84-12035G>A	ENSP00000456336.1:n.84-12035G>A
ENST00000563917.1:n.539G>A
ENST00000564752.1:c.*23G>A	ENSP00000457822.1:n.*23G>A
ENST00000565471.5:c.180G>A	ENSP00000457384.1:p.Leu60=
ENST00000566347.5:c.450G>A	ENSP00000457783.1:p.Leu150=
ENST00000567060.5:c.*37G>A	ENSP00000454818.1:n.*37G>A
NM_017882.2:c.639G>A	NP_060352.1:p.Leu213=
XR_931861.1:n.861G>A
NM_017882.3:c.639G>A MANE Select	NP_060352.1:p.Leu213=