Canonical Allele Identifier: CA392971899

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500605A>C (hg19) ; chr15:g.68208267A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208267A>C , CM000677.2:g.68208267A>C	GRCh38
NC_000015.9:g.68500605A>C , CM000677.1:g.68500605A>C	GRCh37
NC_000015.8:g.66287659A>C	NCBI36
NG_008764.2:g.53945T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.809T>G MANE Select	ENSP00000249806.5:p.Leu270Arg
ENST00000562767.2:c.84-10639T>G	ENSP00000456336.1:n.84-10639T>G
ENST00000565471.6:c.350T>G	ENSP00000457384.1:p.Leu117Arg
ENST00000635747.1:c.*712T>G	ENSP00000490627.1:n.*712T>G
ENST00000636212.1:c.*479T>G	ENSP00000489851.1:n.*479T>G
ENST00000636674.1:n.1911T>G
ENST00000636964.1:n.2337T>G
ENST00000637054.1:c.198+10269T>G	ENSP00000490807.1:n.198+10269T>G
ENST00000637329.1:c.778T>G
ENST00000637450.1:c.*463T>G	ENSP00000490204.1:n.*463T>G
ENST00000637494.1:c.521T>G	ENSP00000490057.1:p.Leu174Arg
ENST00000637667.1:c.710T>G	ENSP00000489843.1:p.Leu237Arg
ENST00000637823.1:c.634T>G
ENST00000637888.1:c.198+10269T>G	ENSP00000490546.1:n.198+10269T>G
ENST00000638076.1:c.*412T>G	ENSP00000490373.1:n.*412T>G
ENST00000638144.1:n.452T>G
ENST00000646164.1:c.39-8586T>G
ENST00000249806.9:c.809T>G	ENSP00000249806.5:p.Leu270Arg
ENST00000538696.5:c.905T>G	ENSP00000445770.1:p.Leu302Arg
ENST00000562767.1:c.84-10639T>G	ENSP00000456336.1:n.84-10639T>G
ENST00000565471.5:c.350T>G	ENSP00000457384.1:p.Leu117Arg
ENST00000566347.5:c.620T>G	ENSP00000457783.1:p.Leu207Arg
ENST00000567060.5:c.*207T>G	ENSP00000454818.1:n.*207T>G
NM_017882.2:c.809T>G	NP_060352.1:p.Leu270Arg
NM_017882.3:c.809T>G MANE Select	NP_060352.1:p.Leu270Arg