Canonical Allele Identifier: CA715168256

Gene: CLN6

Linked Data

• dbSNP Id: rs1334618712
• MyVariant Identifiers: chr15:g.68501006C>G (hg19) ; chr15:g.68208668C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208668C>G , CM000677.2:g.68208668C>G	GRCh38
NC_000015.9:g.68501006C>G , CM000677.1:g.68501006C>G	GRCh37
NC_000015.8:g.66288060C>G	NCBI36
NG_008764.2:g.53544G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-258G>C MANE Select	ENSP00000249806.5:n.666-258G>C
ENST00000562767.2:c.84-11040G>C	ENSP00000456336.1:n.84-11040G>C
ENST00000563917.2:n.508-258G>C
ENST00000565471.6:c.207-258G>C	ENSP00000457384.1:n.207-258G>C
ENST00000635747.1:c.*569-258G>C	ENSP00000490627.1:n.*569-258G>C
ENST00000636212.1:c.*336-258G>C	ENSP00000489851.1:n.*336-258G>C
ENST00000636674.1:n.1768-258G>C
ENST00000636964.1:n.2194-258G>C
ENST00000637054.1:c.198+9868G>C	ENSP00000490807.1:n.198+9868G>C
ENST00000637329.1:c.635-258G>C
ENST00000637450.1:c.*320-258G>C	ENSP00000490204.1:n.*320-258G>C
ENST00000637494.1:c.378-258G>C	ENSP00000490057.1:n.378-258G>C
ENST00000637667.1:c.567-258G>C	ENSP00000489843.1:n.567-258G>C
ENST00000637823.1:c.491-258G>C
ENST00000637888.1:c.198+9868G>C	ENSP00000490546.1:n.198+9868G>C
ENST00000638076.1:c.*269-258G>C	ENSP00000490373.1:n.*269-258G>C
ENST00000638144.1:n.309-258G>C
ENST00000646164.1:c.39-8987G>C
ENST00000249806.9:c.666-258G>C	ENSP00000249806.5:n.666-258G>C
ENST00000538696.5:c.762-258G>C	ENSP00000445770.1:n.762-258G>C
ENST00000562767.1:c.84-11040G>C	ENSP00000456336.1:n.84-11040G>C
ENST00000564752.1:c.*50-258G>C	ENSP00000457822.1:n.*50-258G>C
ENST00000565471.5:c.207-258G>C	ENSP00000457384.1:n.207-258G>C
ENST00000566347.5:c.477-258G>C	ENSP00000457783.1:n.477-258G>C
ENST00000567060.5:c.*64-258G>C	ENSP00000454818.1:n.*64-258G>C
NM_017882.2:c.666-258G>C	NP_060352.1:n.666-258G>C
XR_931861.1:n.888-258G>C
NM_017882.3:c.666-258G>C MANE Select	NP_060352.1:n.666-258G>C