Canonical Allele Identifier: CA392972276

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500721G>C (hg19) ; chr15:g.68208383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208383G>C , CM000677.2:g.68208383G>C	GRCh38
NC_000015.9:g.68500721G>C , CM000677.1:g.68500721G>C	GRCh37
NC_000015.8:g.66287775G>C	NCBI36
NG_008764.2:g.53829C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.693C>G MANE Select	ENSP00000249806.5:p.Phe231Leu
ENST00000562767.2:c.84-10755C>G	ENSP00000456336.1:n.84-10755C>G
ENST00000563917.2:n.535C>G
ENST00000565471.6:c.234C>G	ENSP00000457384.1:p.Phe78Leu
ENST00000635747.1:c.*596C>G	ENSP00000490627.1:n.*596C>G
ENST00000636212.1:c.*363C>G	ENSP00000489851.1:n.*363C>G
ENST00000636674.1:n.1795C>G
ENST00000636964.1:n.2221C>G
ENST00000637054.1:c.198+10153C>G	ENSP00000490807.1:n.198+10153C>G
ENST00000637329.1:c.662C>G
ENST00000637450.1:c.*347C>G	ENSP00000490204.1:n.*347C>G
ENST00000637494.1:c.405C>G	ENSP00000490057.1:p.Phe135Leu
ENST00000637667.1:c.594C>G	ENSP00000489843.1:p.Phe198Leu
ENST00000637823.1:c.518C>G
ENST00000637888.1:c.198+10153C>G	ENSP00000490546.1:n.198+10153C>G
ENST00000638076.1:c.*296C>G	ENSP00000490373.1:n.*296C>G
ENST00000638144.1:n.336C>G
ENST00000646164.1:c.39-8702C>G
ENST00000249806.9:c.693C>G	ENSP00000249806.5:p.Phe231Leu
ENST00000538696.5:c.789C>G	ENSP00000445770.1:p.Phe263Leu
ENST00000562767.1:c.84-10755C>G	ENSP00000456336.1:n.84-10755C>G
ENST00000564752.1:c.*77C>G	ENSP00000457822.1:n.*77C>G
ENST00000565471.5:c.234C>G	ENSP00000457384.1:p.Phe78Leu
ENST00000566347.5:c.504C>G	ENSP00000457783.1:p.Phe168Leu
ENST00000567060.5:c.*91C>G	ENSP00000454818.1:n.*91C>G
NM_017882.2:c.693C>G	NP_060352.1:p.Phe231Leu
NM_017882.3:c.693C>G MANE Select	NP_060352.1:p.Phe231Leu