Canonical Allele Identifier: CA392972857

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1310767
• ClinVar RCV Id: RCV001767881
• dbSNP Id: rs2141137242
• MyVariant Identifiers: chr15:g.68502018C>G (hg19) ; chr15:g.68209680C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.622G>C MANE Select	ENSP00000249806.5:p.Gly208Arg
ENST00000562767.2:c.84-12052G>C	ENSP00000456336.1:n.84-12052G>C
ENST00000563917.2:n.464G>C
ENST00000565471.6:c.163G>C	ENSP00000457384.1:p.Gly55Arg
ENST00000635747.1:c.*525G>C	ENSP00000490627.1:n.*525G>C
ENST00000636212.1:c.*292G>C	ENSP00000489851.1:n.*292G>C
ENST00000636314.1:c.*6G>C	ENSP00000490295.1:n.*6G>C
ENST00000636674.1:n.1724G>C
ENST00000636964.1:n.2150G>C
ENST00000637054.1:c.198+8856G>C	ENSP00000490807.1:n.198+8856G>C
ENST00000637329.1:c.591G>C
ENST00000637450.1:c.*276G>C	ENSP00000490204.1:n.*276G>C
ENST00000637494.1:c.334G>C	ENSP00000490057.1:p.Gly112Arg
ENST00000637667.1:c.523G>C	ENSP00000489843.1:p.Gly175Arg
ENST00000637823.1:c.447G>C
ENST00000637888.1:c.198+8856G>C	ENSP00000490546.1:n.198+8856G>C
ENST00000638076.1:c.*225G>C	ENSP00000490373.1:n.*225G>C
ENST00000638144.1:n.265G>C
ENST00000646164.1:c.38+8856G>C
ENST00000249806.9:c.622G>C	ENSP00000249806.5:p.Gly208Arg
ENST00000538696.5:c.718G>C	ENSP00000445770.1:p.Gly240Arg
ENST00000562767.1:c.84-12052G>C	ENSP00000456336.1:n.84-12052G>C
ENST00000563917.1:n.522G>C
ENST00000564752.1:c.*6G>C	ENSP00000457822.1:n.*6G>C
ENST00000565471.5:c.163G>C	ENSP00000457384.1:p.Gly55Arg
ENST00000566347.5:c.433G>C	ENSP00000457783.1:p.Gly145Arg
ENST00000567060.5:c.*20G>C	ENSP00000454818.1:n.*20G>C
NM_017882.2:c.622G>C	NP_060352.1:p.Gly208Arg
XR_931861.1:n.844G>C
NM_017882.3:c.622G>C MANE Select	NP_060352.1:p.Gly208Arg