Canonical Allele Identifier: CA392972912

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2837514
• ClinVar RCV Id: RCV003648401
• MyVariant Identifiers: chr15:g.68502039T>A (hg19) ; chr15:g.68209701T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209701T>A , CM000677.2:g.68209701T>A	GRCh38
NC_000015.9:g.68502039T>A , CM000677.1:g.68502039T>A	GRCh37
NC_000015.8:g.66289093T>A	NCBI36
NG_008764.2:g.52511A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.601A>T MANE Select	ENSP00000249806.5:p.Lys201Ter
ENST00000562767.2:c.84-12073A>T	ENSP00000456336.1:n.84-12073A>T
ENST00000563917.2:n.443A>T
ENST00000565471.6:c.142A>T	ENSP00000457384.1:p.Lys48Ter
ENST00000635747.1:c.*504A>T	ENSP00000490627.1:n.*504A>T
ENST00000636212.1:c.*271A>T	ENSP00000489851.1:n.*271A>T
ENST00000636314.1:c.297A>T	ENSP00000490295.1:p.Leu99=
ENST00000636674.1:n.1703A>T
ENST00000636964.1:n.2129A>T
ENST00000637054.1:c.198+8835A>T	ENSP00000490807.1:n.198+8835A>T
ENST00000637329.1:c.570A>T
ENST00000637450.1:c.*255A>T	ENSP00000490204.1:n.*255A>T
ENST00000637494.1:c.313A>T	ENSP00000490057.1:p.Lys105Ter
ENST00000637667.1:c.502A>T	ENSP00000489843.1:p.Lys168Ter
ENST00000637823.1:c.426A>T
ENST00000637888.1:c.198+8835A>T	ENSP00000490546.1:n.198+8835A>T
ENST00000638076.1:c.*204A>T	ENSP00000490373.1:n.*204A>T
ENST00000638144.1:n.244A>T
ENST00000646164.1:c.38+8835A>T
ENST00000249806.9:c.601A>T	ENSP00000249806.5:p.Lys201Ter
ENST00000538696.5:c.697A>T	ENSP00000445770.1:p.Lys233Ter
ENST00000562767.1:c.84-12073A>T	ENSP00000456336.1:n.84-12073A>T
ENST00000563917.1:n.501A>T
ENST00000564752.1:c.627A>T	ENSP00000457822.1:p.Leu209=
ENST00000565471.5:c.142A>T	ENSP00000457384.1:p.Lys48Ter
ENST00000566347.5:c.412A>T	ENSP00000457783.1:p.Lys138Ter
ENST00000567060.5:c.317A>T	ENSP00000454818.1:p.Ter106Leu
NM_017882.2:c.601A>T	NP_060352.1:p.Lys201Ter
XR_931861.1:n.823A>T
NM_017882.3:c.601A>T MANE Select	NP_060352.1:p.Lys201Ter