Canonical Allele Identifier: CA392973014

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502078T>A (hg19) ; chr15:g.68209740T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209740T>A , CM000677.2:g.68209740T>A	GRCh38
NC_000015.9:g.68502078T>A , CM000677.1:g.68502078T>A	GRCh37
NC_000015.8:g.66289132T>A	NCBI36
NG_008764.2:g.52472A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.562A>T MANE Select	ENSP00000249806.5:p.Ile188Phe
ENST00000562767.2:c.84-12112A>T	ENSP00000456336.1:n.84-12112A>T
ENST00000563917.2:n.404A>T
ENST00000565471.6:c.103A>T	ENSP00000457384.1:p.Ile35Phe
ENST00000635747.1:c.*465A>T	ENSP00000490627.1:n.*465A>T
ENST00000636212.1:c.*232A>T	ENSP00000489851.1:n.*232A>T
ENST00000636314.1:c.258A>T	ENSP00000490295.1:p.Ser86=
ENST00000636674.1:n.1664A>T
ENST00000636964.1:n.2090A>T
ENST00000637054.1:c.198+8796A>T	ENSP00000490807.1:n.198+8796A>T
ENST00000637223.1:c.*276A>T	ENSP00000490010.1:n.*276A>T
ENST00000637329.1:c.531A>T
ENST00000637450.1:c.*216A>T	ENSP00000490204.1:n.*216A>T
ENST00000637494.1:c.274A>T	ENSP00000490057.1:p.Ile92Phe
ENST00000637667.1:c.463A>T	ENSP00000489843.1:p.Ile155Phe
ENST00000637823.1:c.387A>T
ENST00000637888.1:c.198+8796A>T	ENSP00000490546.1:n.198+8796A>T
ENST00000638076.1:c.*165A>T	ENSP00000490373.1:n.*165A>T
ENST00000638144.1:n.205A>T
ENST00000646164.1:c.38+8796A>T
ENST00000249806.9:c.562A>T	ENSP00000249806.5:p.Ile188Phe
ENST00000538696.5:c.658A>T	ENSP00000445770.1:p.Ile220Phe
ENST00000562767.1:c.84-12112A>T	ENSP00000456336.1:n.84-12112A>T
ENST00000563917.1:n.462A>T
ENST00000564752.1:c.588A>T	ENSP00000457822.1:p.Ser196=
ENST00000565471.5:c.103A>T	ENSP00000457384.1:p.Ile35Phe
ENST00000566347.5:c.373A>T	ENSP00000457783.1:p.Ile125Phe
ENST00000567060.5:c.298-20A>T	ENSP00000454818.1:n.298-20A>T
NM_017882.2:c.562A>T	NP_060352.1:p.Ile188Phe
XR_931861.1:n.784A>T
NM_017882.3:c.562A>T MANE Select	NP_060352.1:p.Ile188Phe