Canonical Allele Identifier: CA392973009

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502075G>T (hg19) ; chr15:g.68209737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209737G>T , CM000677.2:g.68209737G>T	GRCh38
NC_000015.9:g.68502075G>T , CM000677.1:g.68502075G>T	GRCh37
NC_000015.8:g.66289129G>T	NCBI36
NG_008764.2:g.52475C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.565C>A MANE Select	ENSP00000249806.5:p.Leu189Ile
ENST00000562767.2:c.84-12109C>A	ENSP00000456336.1:n.84-12109C>A
ENST00000563917.2:n.407C>A
ENST00000565471.6:c.106C>A	ENSP00000457384.1:p.Leu36Ile
ENST00000635747.1:c.*468C>A	ENSP00000490627.1:n.*468C>A
ENST00000636212.1:c.*235C>A	ENSP00000489851.1:n.*235C>A
ENST00000636314.1:c.261C>A	ENSP00000490295.1:p.Ser87=
ENST00000636674.1:n.1667C>A
ENST00000636964.1:n.2093C>A
ENST00000637054.1:c.198+8799C>A	ENSP00000490807.1:n.198+8799C>A
ENST00000637223.1:c.*279C>A	ENSP00000490010.1:n.*279C>A
ENST00000637329.1:c.534C>A
ENST00000637450.1:c.*219C>A	ENSP00000490204.1:n.*219C>A
ENST00000637494.1:c.277C>A	ENSP00000490057.1:p.Leu93Ile
ENST00000637667.1:c.466C>A	ENSP00000489843.1:p.Leu156Ile
ENST00000637823.1:c.390C>A
ENST00000637888.1:c.198+8799C>A	ENSP00000490546.1:n.198+8799C>A
ENST00000638076.1:c.*168C>A	ENSP00000490373.1:n.*168C>A
ENST00000638144.1:n.208C>A
ENST00000646164.1:c.38+8799C>A
ENST00000249806.9:c.565C>A	ENSP00000249806.5:p.Leu189Ile
ENST00000538696.5:c.661C>A	ENSP00000445770.1:p.Leu221Ile
ENST00000562767.1:c.84-12109C>A	ENSP00000456336.1:n.84-12109C>A
ENST00000563917.1:n.465C>A
ENST00000564752.1:c.591C>A	ENSP00000457822.1:p.Ser197=
ENST00000565471.5:c.106C>A	ENSP00000457384.1:p.Leu36Ile
ENST00000566347.5:c.376C>A	ENSP00000457783.1:p.Leu126Ile
ENST00000567060.5:c.298-17C>A	ENSP00000454818.1:n.298-17C>A
NM_017882.2:c.565C>A	NP_060352.1:p.Leu189Ile
XR_931861.1:n.787C>A
NM_017882.3:c.565C>A MANE Select	NP_060352.1:p.Leu189Ile