Canonical Allele Identifier: CA392972869

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502023A>C (hg19) ; chr15:g.68209685A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209685A>C , CM000677.2:g.68209685A>C	GRCh38
NC_000015.9:g.68502023A>C , CM000677.1:g.68502023A>C	GRCh37
NC_000015.8:g.66289077A>C	NCBI36
NG_008764.2:g.52527T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.617T>G MANE Select	ENSP00000249806.5:p.Ile206Ser
ENST00000562767.2:c.84-12057T>G	ENSP00000456336.1:n.84-12057T>G
ENST00000563917.2:n.459T>G
ENST00000565471.6:c.158T>G	ENSP00000457384.1:p.Ile53Ser
ENST00000635747.1:c.*520T>G	ENSP00000490627.1:n.*520T>G
ENST00000636212.1:c.*287T>G	ENSP00000489851.1:n.*287T>G
ENST00000636314.1:c.*1T>G	ENSP00000490295.1:n.*1T>G
ENST00000636674.1:n.1719T>G
ENST00000636964.1:n.2145T>G
ENST00000637054.1:c.198+8851T>G	ENSP00000490807.1:n.198+8851T>G
ENST00000637329.1:c.586T>G
ENST00000637450.1:c.*271T>G	ENSP00000490204.1:n.*271T>G
ENST00000637494.1:c.329T>G	ENSP00000490057.1:p.Ile110Ser
ENST00000637667.1:c.518T>G	ENSP00000489843.1:p.Ile173Ser
ENST00000637823.1:c.442T>G
ENST00000637888.1:c.198+8851T>G	ENSP00000490546.1:n.198+8851T>G
ENST00000638076.1:c.*220T>G	ENSP00000490373.1:n.*220T>G
ENST00000638144.1:n.260T>G
ENST00000646164.1:c.38+8851T>G
ENST00000249806.9:c.617T>G	ENSP00000249806.5:p.Ile206Ser
ENST00000538696.5:c.713T>G	ENSP00000445770.1:p.Ile238Ser
ENST00000562767.1:c.84-12057T>G	ENSP00000456336.1:n.84-12057T>G
ENST00000563917.1:n.517T>G
ENST00000564752.1:c.*1T>G	ENSP00000457822.1:n.*1T>G
ENST00000565471.5:c.158T>G	ENSP00000457384.1:p.Ile53Ser
ENST00000566347.5:c.428T>G	ENSP00000457783.1:p.Ile143Ser
ENST00000567060.5:c.*15T>G	ENSP00000454818.1:n.*15T>G
NM_017882.2:c.617T>G	NP_060352.1:p.Ile206Ser
XR_931861.1:n.839T>G
NM_017882.3:c.617T>G MANE Select	NP_060352.1:p.Ile206Ser