Canonical Allele Identifier: CA392973596

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504150T>A (hg19) ; chr15:g.68211812T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211812T>A , CM000677.2:g.68211812T>A	GRCh38
NC_000015.9:g.68504150T>A , CM000677.1:g.68504150T>A	GRCh37
NC_000015.8:g.66291204T>A	NCBI36
NG_008764.2:g.50400A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.349A>T MANE Select	ENSP00000249806.5:p.Ile117Phe
ENST00000562767.2:c.84-14184A>T	ENSP00000456336.1:n.84-14184A>T
ENST00000563917.2:n.191A>T
ENST00000565471.6:c.84-2053A>T	ENSP00000457384.1:n.84-2053A>T
ENST00000635747.1:c.*252A>T	ENSP00000490627.1:n.*252A>T
ENST00000636212.1:c.298-71A>T	ENSP00000489851.1:n.298-71A>T
ENST00000636314.1:c.183-494A>T	ENSP00000490295.1:n.183-494A>T
ENST00000636674.1:n.1332A>T
ENST00000636964.1:n.1521A>T
ENST00000637054.1:c.198+6724A>T	ENSP00000490807.1:n.198+6724A>T
ENST00000637223.1:c.*201-494A>T	ENSP00000490010.1:n.*201-494A>T
ENST00000637329.1:c.318A>T
ENST00000637450.1:c.*3A>T	ENSP00000490204.1:n.*3A>T
ENST00000637494.1:c.199-494A>T	ENSP00000490057.1:n.199-494A>T
ENST00000637667.1:c.250A>T	ENSP00000489843.1:p.Ile84Phe
ENST00000637823.1:c.224-169A>T
ENST00000637888.1:c.198+6724A>T	ENSP00000490546.1:n.198+6724A>T
ENST00000638076.1:c.349A>T	ENSP00000490373.1:p.Ile117Phe
ENST00000638144.1:n.130-494A>T
ENST00000646164.1:c.38+6724A>T
ENST00000249806.9:c.349A>T	ENSP00000249806.5:p.Ile117Phe
ENST00000538696.5:c.445A>T	ENSP00000445770.1:p.Ile149Phe
ENST00000562767.1:c.84-14184A>T	ENSP00000456336.1:n.84-14184A>T
ENST00000563917.1:n.130A>T
ENST00000564752.1:c.349A>T	ENSP00000457822.1:p.Ile117Phe
ENST00000565471.5:c.84-2053A>T	ENSP00000457384.1:n.84-2053A>T
ENST00000566347.5:c.298-494A>T	ENSP00000457783.1:n.298-494A>T
ENST00000567060.5:c.298-2092A>T	ENSP00000454818.1:n.298-2092A>T
NM_017882.2:c.349A>T	NP_060352.1:p.Ile117Phe
XR_931861.1:n.452A>T
NM_017882.3:c.349A>T MANE Select	NP_060352.1:p.Ile117Phe