Canonical Allele Identifier: CA490911487

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500739G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208401G>C , CM000677.2:g.68208401G>C	GRCh38
NC_000015.9:g.68500739G>C , CM000677.1:g.68500739G>C	GRCh37
NC_000015.8:g.66287793G>C	NCBI36
NG_008764.2:g.53811C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.675C>G MANE Select	ENSP00000249806.5:p.Val225=
ENST00000562767.2:c.84-10773C>G	ENSP00000456336.1:n.84-10773C>G
ENST00000563917.2:n.517C>G
ENST00000565471.6:c.216C>G	ENSP00000457384.1:p.Val72=
ENST00000635747.1:c.*578C>G	ENSP00000490627.1:n.*578C>G
ENST00000636212.1:c.*345C>G	ENSP00000489851.1:n.*345C>G
ENST00000636674.1:n.1777C>G
ENST00000636964.1:n.2203C>G
ENST00000637054.1:c.198+10135C>G	ENSP00000490807.1:n.198+10135C>G
ENST00000637329.1:c.644C>G
ENST00000637450.1:c.*329C>G	ENSP00000490204.1:n.*329C>G
ENST00000637494.1:c.387C>G	ENSP00000490057.1:p.Val129=
ENST00000637667.1:c.576C>G	ENSP00000489843.1:p.Val192=
ENST00000637823.1:c.500C>G
ENST00000637888.1:c.198+10135C>G	ENSP00000490546.1:n.198+10135C>G
ENST00000638076.1:c.*278C>G	ENSP00000490373.1:n.*278C>G
ENST00000638144.1:n.318C>G
ENST00000646164.1:c.39-8720C>G
ENST00000249806.9:c.675C>G	ENSP00000249806.5:p.Val225=
ENST00000538696.5:c.771C>G	ENSP00000445770.1:p.Val257=
ENST00000562767.1:c.84-10773C>G	ENSP00000456336.1:n.84-10773C>G
ENST00000564752.1:c.*59C>G	ENSP00000457822.1:n.*59C>G
ENST00000565471.5:c.216C>G	ENSP00000457384.1:p.Val72=
ENST00000566347.5:c.486C>G	ENSP00000457783.1:p.Val162=
ENST00000567060.5:c.*73C>G	ENSP00000454818.1:n.*73C>G
NM_017882.2:c.675C>G	NP_060352.1:p.Val225=
XR_931861.1:n.897C>G
NM_017882.3:c.675C>G MANE Select	NP_060352.1:p.Val225=