Canonical Allele Identifier: CA490913140

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504181G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211843G>C , CM000677.2:g.68211843G>C	GRCh38
NC_000015.9:g.68504181G>C , CM000677.1:g.68504181G>C	GRCh37
NC_000015.8:g.66291235G>C	NCBI36
NG_008764.2:g.50369C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.318C>G MANE Select	ENSP00000249806.5:p.Arg106=
ENST00000562767.2:c.84-14215C>G	ENSP00000456336.1:n.84-14215C>G
ENST00000563917.2:n.160C>G
ENST00000565471.6:c.84-2084C>G	ENSP00000457384.1:n.84-2084C>G
ENST00000635747.1:c.*221C>G	ENSP00000490627.1:n.*221C>G
ENST00000636212.1:c.298-102C>G	ENSP00000489851.1:n.298-102C>G
ENST00000636314.1:c.183-525C>G	ENSP00000490295.1:n.183-525C>G
ENST00000636674.1:n.1301C>G
ENST00000636964.1:n.1490C>G
ENST00000637054.1:c.198+6693C>G	ENSP00000490807.1:n.198+6693C>G
ENST00000637223.1:c.*201-525C>G	ENSP00000490010.1:n.*201-525C>G
ENST00000637329.1:c.287C>G
ENST00000637450.1:c.203C>G	ENSP00000490204.1:p.Ala68Gly
ENST00000637494.1:c.199-525C>G	ENSP00000490057.1:n.199-525C>G
ENST00000637667.1:c.219C>G	ENSP00000489843.1:p.Arg73=
ENST00000637823.1:c.224-200C>G
ENST00000637888.1:c.198+6693C>G	ENSP00000490546.1:n.198+6693C>G
ENST00000638076.1:c.318C>G	ENSP00000490373.1:p.Arg106=
ENST00000638144.1:n.130-525C>G
ENST00000646164.1:c.38+6693C>G
ENST00000249806.9:c.318C>G	ENSP00000249806.5:p.Arg106=
ENST00000538696.5:c.414C>G	ENSP00000445770.1:p.Arg138=
ENST00000562767.1:c.84-14215C>G	ENSP00000456336.1:n.84-14215C>G
ENST00000563917.1:n.99C>G
ENST00000564752.1:c.318C>G	ENSP00000457822.1:p.Arg106=
ENST00000565471.5:c.84-2084C>G	ENSP00000457384.1:n.84-2084C>G
ENST00000566347.5:c.298-525C>G	ENSP00000457783.1:n.298-525C>G
ENST00000567060.5:c.298-2123C>G	ENSP00000454818.1:n.298-2123C>G
NM_017882.2:c.318C>G	NP_060352.1:p.Arg106=
XR_931861.1:n.421C>G
NM_017882.3:c.318C>G MANE Select	NP_060352.1:p.Arg106=