Canonical Allele Identifier: CA490912803

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504091G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211753G>A , CM000677.2:g.68211753G>A	GRCh38
NC_000015.9:g.68504091G>A , CM000677.1:g.68504091G>A	GRCh37
NC_000015.8:g.66291145G>A	NCBI36
NG_008764.2:g.50459C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.408C>T MANE Select	ENSP00000249806.5:p.Arg136=
ENST00000562767.2:c.84-14125C>T	ENSP00000456336.1:n.84-14125C>T
ENST00000563917.2:n.250C>T
ENST00000565471.6:c.84-1994C>T	ENSP00000457384.1:n.84-1994C>T
ENST00000635747.1:c.*311C>T	ENSP00000490627.1:n.*311C>T
ENST00000636212.1:c.298-12C>T	ENSP00000489851.1:n.298-12C>T
ENST00000636314.1:c.183-435C>T	ENSP00000490295.1:n.183-435C>T
ENST00000636674.1:n.1391C>T
ENST00000636964.1:n.1580C>T
ENST00000637054.1:c.198+6783C>T	ENSP00000490807.1:n.198+6783C>T
ENST00000637223.1:c.*201-435C>T	ENSP00000490010.1:n.*201-435C>T
ENST00000637329.1:c.377C>T
ENST00000637450.1:c.*62C>T	ENSP00000490204.1:n.*62C>T
ENST00000637494.1:c.199-435C>T	ENSP00000490057.1:n.199-435C>T
ENST00000637667.1:c.309C>T	ENSP00000489843.1:p.Arg103=
ENST00000637823.1:c.224-110C>T
ENST00000637888.1:c.198+6783C>T	ENSP00000490546.1:n.198+6783C>T
ENST00000638076.1:c.408C>T	ENSP00000490373.1:p.Arg136=
ENST00000638144.1:n.130-435C>T
ENST00000646164.1:c.38+6783C>T
ENST00000249806.9:c.408C>T	ENSP00000249806.5:p.Arg136=
ENST00000538696.5:c.504C>T	ENSP00000445770.1:p.Arg168=
ENST00000562767.1:c.84-14125C>T	ENSP00000456336.1:n.84-14125C>T
ENST00000563917.1:n.189C>T
ENST00000564752.1:c.408C>T	ENSP00000457822.1:p.Arg136=
ENST00000565471.5:c.84-1994C>T	ENSP00000457384.1:n.84-1994C>T
ENST00000566347.5:c.298-435C>T	ENSP00000457783.1:n.298-435C>T
ENST00000567060.5:c.298-2033C>T	ENSP00000454818.1:n.298-2033C>T
NM_017882.2:c.408C>T	NP_060352.1:p.Arg136=
XR_931861.1:n.511C>T
NM_017882.3:c.408C>T MANE Select	NP_060352.1:p.Arg136=