Canonical Allele Identifier: CA392973021

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502080A>T (hg19) ; chr15:g.68209742A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209742A>T , CM000677.2:g.68209742A>T	GRCh38
NC_000015.9:g.68502080A>T , CM000677.1:g.68502080A>T	GRCh37
NC_000015.8:g.66289134A>T	NCBI36
NG_008764.2:g.52470T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.560T>A MANE Select	ENSP00000249806.5:p.Leu187His
ENST00000562767.2:c.84-12114T>A	ENSP00000456336.1:n.84-12114T>A
ENST00000563917.2:n.402T>A
ENST00000565471.6:c.101T>A	ENSP00000457384.1:p.Leu34His
ENST00000635747.1:c.*463T>A	ENSP00000490627.1:n.*463T>A
ENST00000636212.1:c.*230T>A	ENSP00000489851.1:n.*230T>A
ENST00000636314.1:c.256T>A	ENSP00000490295.1:p.Ser86Thr
ENST00000636674.1:n.1662T>A
ENST00000636964.1:n.2088T>A
ENST00000637054.1:c.198+8794T>A	ENSP00000490807.1:n.198+8794T>A
ENST00000637223.1:c.*274T>A	ENSP00000490010.1:n.*274T>A
ENST00000637329.1:c.529T>A
ENST00000637450.1:c.*214T>A	ENSP00000490204.1:n.*214T>A
ENST00000637494.1:c.272T>A	ENSP00000490057.1:p.Leu91His
ENST00000637667.1:c.461T>A	ENSP00000489843.1:p.Leu154His
ENST00000637823.1:c.385T>A
ENST00000637888.1:c.198+8794T>A	ENSP00000490546.1:n.198+8794T>A
ENST00000638076.1:c.*163T>A	ENSP00000490373.1:n.*163T>A
ENST00000638144.1:n.203T>A
ENST00000646164.1:c.38+8794T>A
ENST00000249806.9:c.560T>A	ENSP00000249806.5:p.Leu187His
ENST00000538696.5:c.656T>A	ENSP00000445770.1:p.Leu219His
ENST00000562767.1:c.84-12114T>A	ENSP00000456336.1:n.84-12114T>A
ENST00000563917.1:n.460T>A
ENST00000564752.1:c.586T>A	ENSP00000457822.1:p.Ser196Thr
ENST00000565471.5:c.101T>A	ENSP00000457384.1:p.Leu34His
ENST00000566347.5:c.371T>A	ENSP00000457783.1:p.Leu124His
ENST00000567060.5:c.298-22T>A	ENSP00000454818.1:n.298-22T>A
NM_017882.2:c.560T>A	NP_060352.1:p.Leu187His
XR_931861.1:n.782T>A
NM_017882.3:c.560T>A MANE Select	NP_060352.1:p.Leu187His