Canonical Allele Identifier: CA392972271

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500720T>C (hg19) ; chr15:g.68208382T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208382T>C , CM000677.2:g.68208382T>C	GRCh38
NC_000015.9:g.68500720T>C , CM000677.1:g.68500720T>C	GRCh37
NC_000015.8:g.66287774T>C	NCBI36
NG_008764.2:g.53830A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.694A>G MANE Select	ENSP00000249806.5:p.Ile232Val
ENST00000562767.2:c.84-10754A>G	ENSP00000456336.1:n.84-10754A>G
ENST00000563917.2:n.536A>G
ENST00000565471.6:c.235A>G	ENSP00000457384.1:p.Ile79Val
ENST00000635747.1:c.*597A>G	ENSP00000490627.1:n.*597A>G
ENST00000636212.1:c.*364A>G	ENSP00000489851.1:n.*364A>G
ENST00000636674.1:n.1796A>G
ENST00000636964.1:n.2222A>G
ENST00000637054.1:c.198+10154A>G	ENSP00000490807.1:n.198+10154A>G
ENST00000637329.1:c.663A>G
ENST00000637450.1:c.*348A>G	ENSP00000490204.1:n.*348A>G
ENST00000637494.1:c.406A>G	ENSP00000490057.1:p.Ile136Val
ENST00000637667.1:c.595A>G	ENSP00000489843.1:p.Ile199Val
ENST00000637823.1:c.519A>G
ENST00000637888.1:c.198+10154A>G	ENSP00000490546.1:n.198+10154A>G
ENST00000638076.1:c.*297A>G	ENSP00000490373.1:n.*297A>G
ENST00000638144.1:n.337A>G
ENST00000646164.1:c.39-8701A>G
ENST00000249806.9:c.694A>G	ENSP00000249806.5:p.Ile232Val
ENST00000538696.5:c.790A>G	ENSP00000445770.1:p.Ile264Val
ENST00000562767.1:c.84-10754A>G	ENSP00000456336.1:n.84-10754A>G
ENST00000564752.1:c.*78A>G	ENSP00000457822.1:n.*78A>G
ENST00000565471.5:c.235A>G	ENSP00000457384.1:p.Ile79Val
ENST00000566347.5:c.505A>G	ENSP00000457783.1:p.Ile169Val
ENST00000567060.5:c.*92A>G	ENSP00000454818.1:n.*92A>G
NM_017882.2:c.694A>G	NP_060352.1:p.Ile232Val
NM_017882.3:c.694A>G MANE Select	NP_060352.1:p.Ile232Val