Canonical Allele Identifier: CA392972871

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502024T>C (hg19) ; chr15:g.68209686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209686T>C , CM000677.2:g.68209686T>C	GRCh38
NC_000015.9:g.68502024T>C , CM000677.1:g.68502024T>C	GRCh37
NC_000015.8:g.66289078T>C	NCBI36
NG_008764.2:g.52526A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.616A>G MANE Select	ENSP00000249806.5:p.Ile206Val
ENST00000562767.2:c.84-12058A>G	ENSP00000456336.1:n.84-12058A>G
ENST00000563917.2:n.458A>G
ENST00000565471.6:c.157A>G	ENSP00000457384.1:p.Ile53Val
ENST00000635747.1:c.*519A>G	ENSP00000490627.1:n.*519A>G
ENST00000636212.1:c.*286A>G	ENSP00000489851.1:n.*286A>G
ENST00000636314.1:c.312A>G	ENSP00000490295.1:p.Ter104Trp
ENST00000636674.1:n.1718A>G
ENST00000636964.1:n.2144A>G
ENST00000637054.1:c.198+8850A>G	ENSP00000490807.1:n.198+8850A>G
ENST00000637329.1:c.585A>G
ENST00000637450.1:c.*270A>G	ENSP00000490204.1:n.*270A>G
ENST00000637494.1:c.328A>G	ENSP00000490057.1:p.Ile110Val
ENST00000637667.1:c.517A>G	ENSP00000489843.1:p.Ile173Val
ENST00000637823.1:c.441A>G
ENST00000637888.1:c.198+8850A>G	ENSP00000490546.1:n.198+8850A>G
ENST00000638076.1:c.*219A>G	ENSP00000490373.1:n.*219A>G
ENST00000638144.1:n.259A>G
ENST00000646164.1:c.38+8850A>G
ENST00000249806.9:c.616A>G	ENSP00000249806.5:p.Ile206Val
ENST00000538696.5:c.712A>G	ENSP00000445770.1:p.Ile238Val
ENST00000562767.1:c.84-12058A>G	ENSP00000456336.1:n.84-12058A>G
ENST00000563917.1:n.516A>G
ENST00000564752.1:c.642A>G	ENSP00000457822.1:p.Ter214Trp
ENST00000565471.5:c.157A>G	ENSP00000457384.1:p.Ile53Val
ENST00000566347.5:c.427A>G	ENSP00000457783.1:p.Ile143Val
ENST00000567060.5:c.*14A>G	ENSP00000454818.1:n.*14A>G
NM_017882.2:c.616A>G	NP_060352.1:p.Ile206Val
XR_931861.1:n.838A>G
NM_017882.3:c.616A>G MANE Select	NP_060352.1:p.Ile206Val