Canonical Allele Identifier: CA392972083

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500677A>C (hg19) ; chr15:g.68208339A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208339A>C , CM000677.2:g.68208339A>C	GRCh38
NC_000015.9:g.68500677A>C , CM000677.1:g.68500677A>C	GRCh37
NC_000015.8:g.66287731A>C	NCBI36
NG_008764.2:g.53873T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.737T>G MANE Select	ENSP00000249806.5:p.Leu246Arg
ENST00000562767.2:c.84-10711T>G	ENSP00000456336.1:n.84-10711T>G
ENST00000565471.6:c.278T>G	ENSP00000457384.1:p.Leu93Arg
ENST00000635747.1:c.*640T>G	ENSP00000490627.1:n.*640T>G
ENST00000636212.1:c.*407T>G	ENSP00000489851.1:n.*407T>G
ENST00000636674.1:n.1839T>G
ENST00000636964.1:n.2265T>G
ENST00000637054.1:c.198+10197T>G	ENSP00000490807.1:n.198+10197T>G
ENST00000637329.1:c.706T>G
ENST00000637450.1:c.*391T>G	ENSP00000490204.1:n.*391T>G
ENST00000637494.1:c.449T>G	ENSP00000490057.1:p.Leu150Arg
ENST00000637667.1:c.638T>G	ENSP00000489843.1:p.Leu213Arg
ENST00000637823.1:c.562T>G
ENST00000637888.1:c.198+10197T>G	ENSP00000490546.1:n.198+10197T>G
ENST00000638076.1:c.*340T>G	ENSP00000490373.1:n.*340T>G
ENST00000638144.1:n.380T>G
ENST00000646164.1:c.39-8658T>G
ENST00000249806.9:c.737T>G	ENSP00000249806.5:p.Leu246Arg
ENST00000538696.5:c.833T>G	ENSP00000445770.1:p.Leu278Arg
ENST00000562767.1:c.84-10711T>G	ENSP00000456336.1:n.84-10711T>G
ENST00000564752.1:c.*121T>G	ENSP00000457822.1:n.*121T>G
ENST00000565471.5:c.278T>G	ENSP00000457384.1:p.Leu93Arg
ENST00000566347.5:c.548T>G	ENSP00000457783.1:p.Leu183Arg
ENST00000567060.5:c.*135T>G	ENSP00000454818.1:n.*135T>G
NM_017882.2:c.737T>G	NP_060352.1:p.Leu246Arg
NM_017882.3:c.737T>G MANE Select	NP_060352.1:p.Leu246Arg