Canonical Allele Identifier: CA392972289

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500723A>C (hg19) ; chr15:g.68208385A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208385A>C , CM000677.2:g.68208385A>C	GRCh38
NC_000015.9:g.68500723A>C , CM000677.1:g.68500723A>C	GRCh37
NC_000015.8:g.66287777A>C	NCBI36
NG_008764.2:g.53827T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.691T>G MANE Select	ENSP00000249806.5:p.Phe231Val
ENST00000562767.2:c.84-10757T>G	ENSP00000456336.1:n.84-10757T>G
ENST00000563917.2:n.533T>G
ENST00000565471.6:c.232T>G	ENSP00000457384.1:p.Phe78Val
ENST00000635747.1:c.*594T>G	ENSP00000490627.1:n.*594T>G
ENST00000636212.1:c.*361T>G	ENSP00000489851.1:n.*361T>G
ENST00000636674.1:n.1793T>G
ENST00000636964.1:n.2219T>G
ENST00000637054.1:c.198+10151T>G	ENSP00000490807.1:n.198+10151T>G
ENST00000637329.1:c.660T>G
ENST00000637450.1:c.*345T>G	ENSP00000490204.1:n.*345T>G
ENST00000637494.1:c.403T>G	ENSP00000490057.1:p.Phe135Val
ENST00000637667.1:c.592T>G	ENSP00000489843.1:p.Phe198Val
ENST00000637823.1:c.516T>G
ENST00000637888.1:c.198+10151T>G	ENSP00000490546.1:n.198+10151T>G
ENST00000638076.1:c.*294T>G	ENSP00000490373.1:n.*294T>G
ENST00000638144.1:n.334T>G
ENST00000646164.1:c.39-8704T>G
ENST00000249806.9:c.691T>G	ENSP00000249806.5:p.Phe231Val
ENST00000538696.5:c.787T>G	ENSP00000445770.1:p.Phe263Val
ENST00000562767.1:c.84-10757T>G	ENSP00000456336.1:n.84-10757T>G
ENST00000564752.1:c.*75T>G	ENSP00000457822.1:n.*75T>G
ENST00000565471.5:c.232T>G	ENSP00000457384.1:p.Phe78Val
ENST00000566347.5:c.502T>G	ENSP00000457783.1:p.Phe168Val
ENST00000567060.5:c.*89T>G	ENSP00000454818.1:n.*89T>G
NM_017882.2:c.691T>G	NP_060352.1:p.Phe231Val
NM_017882.3:c.691T>G MANE Select	NP_060352.1:p.Phe231Val