Canonical Allele Identifier: CA392972859

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502018C>A (hg19) ; chr15:g.68209680C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209680C>A , CM000677.2:g.68209680C>A	GRCh38
NC_000015.9:g.68502018C>A , CM000677.1:g.68502018C>A	GRCh37
NC_000015.8:g.66289072C>A	NCBI36
NG_008764.2:g.52532G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.622G>T MANE Select	ENSP00000249806.5:p.Gly208Trp
ENST00000562767.2:c.84-12052G>T	ENSP00000456336.1:n.84-12052G>T
ENST00000563917.2:n.464G>T
ENST00000565471.6:c.163G>T	ENSP00000457384.1:p.Gly55Trp
ENST00000635747.1:c.*525G>T	ENSP00000490627.1:n.*525G>T
ENST00000636212.1:c.*292G>T	ENSP00000489851.1:n.*292G>T
ENST00000636314.1:c.*6G>T	ENSP00000490295.1:n.*6G>T
ENST00000636674.1:n.1724G>T
ENST00000636964.1:n.2150G>T
ENST00000637054.1:c.198+8856G>T	ENSP00000490807.1:n.198+8856G>T
ENST00000637329.1:c.591G>T
ENST00000637450.1:c.*276G>T	ENSP00000490204.1:n.*276G>T
ENST00000637494.1:c.334G>T	ENSP00000490057.1:p.Gly112Trp
ENST00000637667.1:c.523G>T	ENSP00000489843.1:p.Gly175Trp
ENST00000637823.1:c.447G>T
ENST00000637888.1:c.198+8856G>T	ENSP00000490546.1:n.198+8856G>T
ENST00000638076.1:c.*225G>T	ENSP00000490373.1:n.*225G>T
ENST00000638144.1:n.265G>T
ENST00000646164.1:c.38+8856G>T
ENST00000249806.9:c.622G>T	ENSP00000249806.5:p.Gly208Trp
ENST00000538696.5:c.718G>T	ENSP00000445770.1:p.Gly240Trp
ENST00000562767.1:c.84-12052G>T	ENSP00000456336.1:n.84-12052G>T
ENST00000563917.1:n.522G>T
ENST00000564752.1:c.*6G>T	ENSP00000457822.1:n.*6G>T
ENST00000565471.5:c.163G>T	ENSP00000457384.1:p.Gly55Trp
ENST00000566347.5:c.433G>T	ENSP00000457783.1:p.Gly145Trp
ENST00000567060.5:c.*20G>T	ENSP00000454818.1:n.*20G>T
NM_017882.2:c.622G>T	NP_060352.1:p.Gly208Trp
XR_931861.1:n.844G>T
NM_017882.3:c.622G>T MANE Select	NP_060352.1:p.Gly208Trp