Canonical Allele Identifier: CA491099963

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500628G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208290G>T , CM000677.2:g.68208290G>T	GRCh38
NC_000015.9:g.68500628G>T , CM000677.1:g.68500628G>T	GRCh37
NC_000015.8:g.66287682G>T	NCBI36
NG_008764.2:g.53922C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.786C>A MANE Select	ENSP00000249806.5:p.Leu262=
ENST00000562767.2:c.84-10662C>A	ENSP00000456336.1:n.84-10662C>A
ENST00000565471.6:c.327C>A	ENSP00000457384.1:p.Leu109=
ENST00000635747.1:c.*689C>A	ENSP00000490627.1:n.*689C>A
ENST00000636212.1:c.*456C>A	ENSP00000489851.1:n.*456C>A
ENST00000636674.1:n.1888C>A
ENST00000636964.1:n.2314C>A
ENST00000637054.1:c.198+10246C>A	ENSP00000490807.1:n.198+10246C>A
ENST00000637329.1:c.755C>A
ENST00000637450.1:c.*440C>A	ENSP00000490204.1:n.*440C>A
ENST00000637494.1:c.498C>A	ENSP00000490057.1:p.Leu166=
ENST00000637667.1:c.687C>A	ENSP00000489843.1:p.Leu229=
ENST00000637823.1:c.611C>A
ENST00000637888.1:c.198+10246C>A	ENSP00000490546.1:n.198+10246C>A
ENST00000638076.1:c.*389C>A	ENSP00000490373.1:n.*389C>A
ENST00000638144.1:n.429C>A
ENST00000646164.1:c.39-8609C>A
ENST00000249806.9:c.786C>A	ENSP00000249806.5:p.Leu262=
ENST00000538696.5:c.882C>A	ENSP00000445770.1:p.Leu294=
ENST00000562767.1:c.84-10662C>A	ENSP00000456336.1:n.84-10662C>A
ENST00000565471.5:c.327C>A	ENSP00000457384.1:p.Leu109=
ENST00000566347.5:c.597C>A	ENSP00000457783.1:p.Leu199=
ENST00000567060.5:c.*184C>A	ENSP00000454818.1:n.*184C>A
NM_017882.2:c.786C>A	NP_060352.1:p.Leu262=
NM_017882.3:c.786C>A MANE Select	NP_060352.1:p.Leu262=