Canonical Allele Identifier: CA392974347

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2627623
• ClinVar RCV Id: RCV003388913
• MyVariant Identifiers: chr15:g.68506647G>T (hg19) ; chr15:g.68214309G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214309G>T , CM000677.2:g.68214309G>T	GRCh38
NC_000015.9:g.68506647G>T , CM000677.1:g.68506647G>T	GRCh37
NC_000015.8:g.66293701G>T	NCBI36
NG_008764.2:g.47903C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.278C>A MANE Select	ENSP00000249806.5:p.Thr93Lys
ENST00000562767.2:c.83+15193C>A	ENSP00000456336.1:n.83+15193C>A
ENST00000563917.2:n.120C>A
ENST00000565471.6:c.84-4550C>A	ENSP00000457384.1:n.84-4550C>A
ENST00000635747.1:c.*181C>A	ENSP00000490627.1:n.*181C>A
ENST00000635754.1:n.1300C>A
ENST00000636020.1:n.410C>A
ENST00000636212.1:c.278C>A	ENSP00000489851.1:p.Thr93Lys
ENST00000636314.1:c.163C>A	ENSP00000490295.1:p.Arg55Ser
ENST00000637054.1:c.198+4227C>A	ENSP00000490807.1:n.198+4227C>A
ENST00000637223.1:c.*181C>A	ENSP00000490010.1:n.*181C>A
ENST00000637329.1:c.189C>A
ENST00000637450.1:c.163C>A	ENSP00000490204.1:p.Arg55Ser
ENST00000637494.1:c.199-2991C>A	ENSP00000490057.1:n.199-2991C>A
ENST00000637667.1:c.199-2446C>A	ENSP00000489843.1:n.199-2446C>A
ENST00000637823.1:c.204C>A
ENST00000637888.1:c.198+4227C>A	ENSP00000490546.1:n.198+4227C>A
ENST00000638076.1:c.278C>A	ENSP00000490373.1:p.Thr93Lys
ENST00000638144.1:n.110C>A
ENST00000646164.1:c.38+4227C>A
ENST00000249806.9:c.278C>A	ENSP00000249806.5:p.Thr93Lys
ENST00000538696.5:c.374C>A	ENSP00000445770.1:p.Thr125Lys
ENST00000562767.1:c.83+15193C>A	ENSP00000456336.1:n.83+15193C>A
ENST00000563917.1:n.59C>A
ENST00000564752.1:c.278C>A	ENSP00000457822.1:p.Thr93Lys
ENST00000564846.1:n.710C>A
ENST00000565471.5:c.84-4550C>A	ENSP00000457384.1:n.84-4550C>A
ENST00000566347.5:c.278C>A	ENSP00000457783.1:p.Thr93Lys
ENST00000567060.5:c.278C>A	ENSP00000454818.1:p.Thr93Lys
NM_017882.2:c.278C>A	NP_060352.1:p.Thr93Lys
XR_931861.1:n.381C>A
NM_017882.3:c.278C>A MANE Select	NP_060352.1:p.Thr93Lys