Canonical Allele Identifier: CA392972963

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502059C>G (hg19) ; chr15:g.68209721C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209721C>G , CM000677.2:g.68209721C>G	GRCh38
NC_000015.9:g.68502059C>G , CM000677.1:g.68502059C>G	GRCh37
NC_000015.8:g.66289113C>G	NCBI36
NG_008764.2:g.52491G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.581G>C MANE Select	ENSP00000249806.5:p.Ser194Thr
ENST00000562767.2:c.84-12093G>C	ENSP00000456336.1:n.84-12093G>C
ENST00000563917.2:n.423G>C
ENST00000565471.6:c.122G>C	ENSP00000457384.1:p.Ser41Thr
ENST00000635747.1:c.*484G>C	ENSP00000490627.1:n.*484G>C
ENST00000636212.1:c.*251G>C	ENSP00000489851.1:n.*251G>C
ENST00000636314.1:c.277G>C	ENSP00000490295.1:p.Ala93Pro
ENST00000636674.1:n.1683G>C
ENST00000636964.1:n.2109G>C
ENST00000637054.1:c.198+8815G>C	ENSP00000490807.1:n.198+8815G>C
ENST00000637223.1:c.*295G>C	ENSP00000490010.1:n.*295G>C
ENST00000637329.1:c.550G>C
ENST00000637450.1:c.*235G>C	ENSP00000490204.1:n.*235G>C
ENST00000637494.1:c.293G>C	ENSP00000490057.1:p.Ser98Thr
ENST00000637667.1:c.482G>C	ENSP00000489843.1:p.Ser161Thr
ENST00000637823.1:c.406G>C
ENST00000637888.1:c.198+8815G>C	ENSP00000490546.1:n.198+8815G>C
ENST00000638076.1:c.*184G>C	ENSP00000490373.1:n.*184G>C
ENST00000638144.1:n.224G>C
ENST00000646164.1:c.38+8815G>C
ENST00000249806.9:c.581G>C	ENSP00000249806.5:p.Ser194Thr
ENST00000538696.5:c.677G>C	ENSP00000445770.1:p.Ser226Thr
ENST00000562767.1:c.84-12093G>C	ENSP00000456336.1:n.84-12093G>C
ENST00000563917.1:n.481G>C
ENST00000564752.1:c.607G>C	ENSP00000457822.1:p.Ala203Pro
ENST00000565471.5:c.122G>C	ENSP00000457384.1:p.Ser41Thr
ENST00000566347.5:c.392G>C	ENSP00000457783.1:p.Ser131Thr
ENST00000567060.5:c.298-1G>C	ENSP00000454818.1:n.298-1G>C
NM_017882.2:c.581G>C	NP_060352.1:p.Ser194Thr
XR_931861.1:n.803G>C
NM_017882.3:c.581G>C MANE Select	NP_060352.1:p.Ser194Thr