Canonical Allele Identifier: CA491099959

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2856785
• ClinVar RCV Id: RCV003648557
• gnomAD v4: 15-68208290-G-A
• MyVariant Identifiers: chr15:g.68500628G>A (hg19)

Genomic Alleles

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

Transcript Alleles

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