Canonical Allele Identifier: CA392971961

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500633A>C (hg19) ; chr15:g.68208295A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208295A>C , CM000677.2:g.68208295A>C	GRCh38
NC_000015.9:g.68500633A>C , CM000677.1:g.68500633A>C	GRCh37
NC_000015.8:g.66287687A>C	NCBI36
NG_008764.2:g.53917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.781T>G MANE Select	ENSP00000249806.5:p.Phe261Val
ENST00000562767.2:c.84-10667T>G	ENSP00000456336.1:n.84-10667T>G
ENST00000565471.6:c.322T>G	ENSP00000457384.1:p.Phe108Val
ENST00000635747.1:c.*684T>G	ENSP00000490627.1:n.*684T>G
ENST00000636212.1:c.*451T>G	ENSP00000489851.1:n.*451T>G
ENST00000636674.1:n.1883T>G
ENST00000636964.1:n.2309T>G
ENST00000637054.1:c.198+10241T>G	ENSP00000490807.1:n.198+10241T>G
ENST00000637329.1:c.750T>G
ENST00000637450.1:c.*435T>G	ENSP00000490204.1:n.*435T>G
ENST00000637494.1:c.493T>G	ENSP00000490057.1:p.Phe165Val
ENST00000637667.1:c.682T>G	ENSP00000489843.1:p.Phe228Val
ENST00000637823.1:c.606T>G
ENST00000637888.1:c.198+10241T>G	ENSP00000490546.1:n.198+10241T>G
ENST00000638076.1:c.*384T>G	ENSP00000490373.1:n.*384T>G
ENST00000638144.1:n.424T>G
ENST00000646164.1:c.39-8614T>G
ENST00000249806.9:c.781T>G	ENSP00000249806.5:p.Phe261Val
ENST00000538696.5:c.877T>G	ENSP00000445770.1:p.Phe293Val
ENST00000562767.1:c.84-10667T>G	ENSP00000456336.1:n.84-10667T>G
ENST00000565471.5:c.322T>G	ENSP00000457384.1:p.Phe108Val
ENST00000566347.5:c.592T>G	ENSP00000457783.1:p.Phe198Val
ENST00000567060.5:c.*179T>G	ENSP00000454818.1:n.*179T>G
NM_017882.2:c.781T>G	NP_060352.1:p.Phe261Val
NM_017882.3:c.781T>G MANE Select	NP_060352.1:p.Phe261Val