Canonical Allele Identifier: CA392971956

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2037196
• ClinVar RCV Id: RCV002885573
• gnomAD v4: 15-68208293-G-C
• MyVariant Identifiers: chr15:g.68500631G>C (hg19) ; chr15:g.68208293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208293G>C , CM000677.2:g.68208293G>C	GRCh38
NC_000015.9:g.68500631G>C , CM000677.1:g.68500631G>C	GRCh37
NC_000015.8:g.66287685G>C	NCBI36
NG_008764.2:g.53919C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.783C>G MANE Select	ENSP00000249806.5:p.Phe261Leu
ENST00000562767.2:c.84-10665C>G	ENSP00000456336.1:n.84-10665C>G
ENST00000565471.6:c.324C>G	ENSP00000457384.1:p.Phe108Leu
ENST00000635747.1:c.*686C>G	ENSP00000490627.1:n.*686C>G
ENST00000636212.1:c.*453C>G	ENSP00000489851.1:n.*453C>G
ENST00000636674.1:n.1885C>G
ENST00000636964.1:n.2311C>G
ENST00000637054.1:c.198+10243C>G	ENSP00000490807.1:n.198+10243C>G
ENST00000637329.1:c.752C>G
ENST00000637450.1:c.*437C>G	ENSP00000490204.1:n.*437C>G
ENST00000637494.1:c.495C>G	ENSP00000490057.1:p.Phe165Leu
ENST00000637667.1:c.684C>G	ENSP00000489843.1:p.Phe228Leu
ENST00000637823.1:c.608C>G
ENST00000637888.1:c.198+10243C>G	ENSP00000490546.1:n.198+10243C>G
ENST00000638076.1:c.*386C>G	ENSP00000490373.1:n.*386C>G
ENST00000638144.1:n.426C>G
ENST00000646164.1:c.39-8612C>G
ENST00000249806.9:c.783C>G	ENSP00000249806.5:p.Phe261Leu
ENST00000538696.5:c.879C>G	ENSP00000445770.1:p.Phe293Leu
ENST00000562767.1:c.84-10665C>G	ENSP00000456336.1:n.84-10665C>G
ENST00000565471.5:c.324C>G	ENSP00000457384.1:p.Phe108Leu
ENST00000566347.5:c.594C>G	ENSP00000457783.1:p.Phe198Leu
ENST00000567060.5:c.*181C>G	ENSP00000454818.1:n.*181C>G
NM_017882.2:c.783C>G	NP_060352.1:p.Phe261Leu
NM_017882.3:c.783C>G MANE Select	NP_060352.1:p.Phe261Leu