Canonical Allele Identifier: CA392971954

Gene: CLN6

Linked Data

• dbSNP Id: rs2141136006
• MyVariant Identifiers: chr15:g.68500630G>C (hg19) ; chr15:g.68208292G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208292G>C , CM000677.2:g.68208292G>C	GRCh38
NC_000015.9:g.68500630G>C , CM000677.1:g.68500630G>C	GRCh37
NC_000015.8:g.66287684G>C	NCBI36
NG_008764.2:g.53920C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.784C>G MANE Select	ENSP00000249806.5:p.Leu262Val
ENST00000562767.2:c.84-10664C>G	ENSP00000456336.1:n.84-10664C>G
ENST00000565471.6:c.325C>G	ENSP00000457384.1:p.Leu109Val
ENST00000635747.1:c.*687C>G	ENSP00000490627.1:n.*687C>G
ENST00000636212.1:c.*454C>G	ENSP00000489851.1:n.*454C>G
ENST00000636674.1:n.1886C>G
ENST00000636964.1:n.2312C>G
ENST00000637054.1:c.198+10244C>G	ENSP00000490807.1:n.198+10244C>G
ENST00000637329.1:c.753C>G
ENST00000637450.1:c.*438C>G	ENSP00000490204.1:n.*438C>G
ENST00000637494.1:c.496C>G	ENSP00000490057.1:p.Leu166Val
ENST00000637667.1:c.685C>G	ENSP00000489843.1:p.Leu229Val
ENST00000637823.1:c.609C>G
ENST00000637888.1:c.198+10244C>G	ENSP00000490546.1:n.198+10244C>G
ENST00000638076.1:c.*387C>G	ENSP00000490373.1:n.*387C>G
ENST00000638144.1:n.427C>G
ENST00000646164.1:c.39-8611C>G
ENST00000249806.9:c.784C>G	ENSP00000249806.5:p.Leu262Val
ENST00000538696.5:c.880C>G	ENSP00000445770.1:p.Leu294Val
ENST00000562767.1:c.84-10664C>G	ENSP00000456336.1:n.84-10664C>G
ENST00000565471.5:c.325C>G	ENSP00000457384.1:p.Leu109Val
ENST00000566347.5:c.595C>G	ENSP00000457783.1:p.Leu199Val
ENST00000567060.5:c.*182C>G	ENSP00000454818.1:n.*182C>G
NM_017882.2:c.784C>G	NP_060352.1:p.Leu262Val
NM_017882.3:c.784C>G MANE Select	NP_060352.1:p.Leu262Val