Canonical Allele Identifier: CA490913093

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2823793
• ClinVar RCV Id: RCV003648275
• MyVariant Identifiers: chr15:g.68504169G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211831G>A , CM000677.2:g.68211831G>A	GRCh38
NC_000015.9:g.68504169G>A , CM000677.1:g.68504169G>A	GRCh37
NC_000015.8:g.66291223G>A	NCBI36
NG_008764.2:g.50381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.330C>T MANE Select	ENSP00000249806.5:p.Arg110=
ENST00000562767.2:c.84-14203C>T	ENSP00000456336.1:n.84-14203C>T
ENST00000563917.2:n.172C>T
ENST00000565471.6:c.84-2072C>T	ENSP00000457384.1:n.84-2072C>T
ENST00000635747.1:c.*233C>T	ENSP00000490627.1:n.*233C>T
ENST00000636212.1:c.298-90C>T	ENSP00000489851.1:n.298-90C>T
ENST00000636314.1:c.183-513C>T	ENSP00000490295.1:n.183-513C>T
ENST00000636674.1:n.1313C>T
ENST00000636964.1:n.1502C>T
ENST00000637054.1:c.198+6705C>T	ENSP00000490807.1:n.198+6705C>T
ENST00000637223.1:c.*201-513C>T	ENSP00000490010.1:n.*201-513C>T
ENST00000637329.1:c.299C>T
ENST00000637450.1:c.215C>T	ENSP00000490204.1:p.Ala72Val
ENST00000637494.1:c.199-513C>T	ENSP00000490057.1:n.199-513C>T
ENST00000637667.1:c.231C>T	ENSP00000489843.1:p.Arg77=
ENST00000637823.1:c.224-188C>T
ENST00000637888.1:c.198+6705C>T	ENSP00000490546.1:n.198+6705C>T
ENST00000638076.1:c.330C>T	ENSP00000490373.1:p.Arg110=
ENST00000638144.1:n.130-513C>T
ENST00000646164.1:c.38+6705C>T
ENST00000249806.9:c.330C>T	ENSP00000249806.5:p.Arg110=
ENST00000538696.5:c.426C>T	ENSP00000445770.1:p.Arg142=
ENST00000562767.1:c.84-14203C>T	ENSP00000456336.1:n.84-14203C>T
ENST00000563917.1:n.111C>T
ENST00000564752.1:c.330C>T	ENSP00000457822.1:p.Arg110=
ENST00000565471.5:c.84-2072C>T	ENSP00000457384.1:n.84-2072C>T
ENST00000566347.5:c.298-513C>T	ENSP00000457783.1:n.298-513C>T
ENST00000567060.5:c.298-2111C>T	ENSP00000454818.1:n.298-2111C>T
NM_017882.2:c.330C>T	NP_060352.1:p.Arg110=
XR_931861.1:n.433C>T
NM_017882.3:c.330C>T MANE Select	NP_060352.1:p.Arg110=