Canonical Allele Identifier: CA392971804

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500576G>C (hg19) ; chr15:g.68208238G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208238G>C , CM000677.2:g.68208238G>C	GRCh38
NC_000015.9:g.68500576G>C , CM000677.1:g.68500576G>C	GRCh37
NC_000015.8:g.66287630G>C	NCBI36
NG_008764.2:g.53974C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.838C>G MANE Select	ENSP00000249806.5:p.Leu280Val
ENST00000562767.2:c.84-10610C>G	ENSP00000456336.1:n.84-10610C>G
ENST00000565471.6:c.379C>G	ENSP00000457384.1:p.Leu127Val
ENST00000635747.1:c.*741C>G	ENSP00000490627.1:n.*741C>G
ENST00000636212.1:c.*508C>G	ENSP00000489851.1:n.*508C>G
ENST00000636674.1:n.1940C>G
ENST00000636964.1:n.2366C>G
ENST00000637054.1:c.198+10298C>G	ENSP00000490807.1:n.198+10298C>G
ENST00000637329.1:c.807C>G
ENST00000637450.1:c.*492C>G	ENSP00000490204.1:n.*492C>G
ENST00000637494.1:c.550C>G	ENSP00000490057.1:p.Leu184Val
ENST00000637667.1:c.739C>G	ENSP00000489843.1:p.Leu247Val
ENST00000637823.1:c.663C>G
ENST00000637888.1:c.198+10298C>G	ENSP00000490546.1:n.198+10298C>G
ENST00000638076.1:c.*441C>G	ENSP00000490373.1:n.*441C>G
ENST00000638144.1:n.481C>G
ENST00000646164.1:c.39-8557C>G
ENST00000249806.9:c.838C>G	ENSP00000249806.5:p.Leu280Val
ENST00000538696.5:c.934C>G	ENSP00000445770.1:p.Leu312Val
ENST00000562767.1:c.84-10610C>G	ENSP00000456336.1:n.84-10610C>G
ENST00000565471.5:c.379C>G	ENSP00000457384.1:p.Leu127Val
ENST00000566347.5:c.649C>G	ENSP00000457783.1:p.Leu217Val
ENST00000567060.5:c.*236C>G	ENSP00000454818.1:n.*236C>G
NM_017882.2:c.838C>G	NP_060352.1:p.Leu280Val
NM_017882.3:c.838C>G MANE Select	NP_060352.1:p.Leu280Val