Canonical Allele Identifier: CA392972852

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502015G>C (hg19) ; chr15:g.68209677G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209677G>C , CM000677.2:g.68209677G>C	GRCh38
NC_000015.9:g.68502015G>C , CM000677.1:g.68502015G>C	GRCh37
NC_000015.8:g.66289069G>C	NCBI36
NG_008764.2:g.52535C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.625C>G MANE Select	ENSP00000249806.5:p.Pro209Ala
ENST00000562767.2:c.84-12049C>G	ENSP00000456336.1:n.84-12049C>G
ENST00000563917.2:n.467C>G
ENST00000565471.6:c.166C>G	ENSP00000457384.1:p.Pro56Ala
ENST00000635747.1:c.*528C>G	ENSP00000490627.1:n.*528C>G
ENST00000636212.1:c.*295C>G	ENSP00000489851.1:n.*295C>G
ENST00000636314.1:c.*9C>G	ENSP00000490295.1:n.*9C>G
ENST00000636674.1:n.1727C>G
ENST00000636964.1:n.2153C>G
ENST00000637054.1:c.198+8859C>G	ENSP00000490807.1:n.198+8859C>G
ENST00000637329.1:c.594C>G
ENST00000637450.1:c.*279C>G	ENSP00000490204.1:n.*279C>G
ENST00000637494.1:c.337C>G	ENSP00000490057.1:p.Pro113Ala
ENST00000637667.1:c.526C>G	ENSP00000489843.1:p.Pro176Ala
ENST00000637823.1:c.450C>G
ENST00000637888.1:c.198+8859C>G	ENSP00000490546.1:n.198+8859C>G
ENST00000638076.1:c.*228C>G	ENSP00000490373.1:n.*228C>G
ENST00000638144.1:n.268C>G
ENST00000646164.1:c.38+8859C>G
ENST00000249806.9:c.625C>G	ENSP00000249806.5:p.Pro209Ala
ENST00000538696.5:c.721C>G	ENSP00000445770.1:p.Pro241Ala
ENST00000562767.1:c.84-12049C>G	ENSP00000456336.1:n.84-12049C>G
ENST00000563917.1:n.525C>G
ENST00000564752.1:c.*9C>G	ENSP00000457822.1:n.*9C>G
ENST00000565471.5:c.166C>G	ENSP00000457384.1:p.Pro56Ala
ENST00000566347.5:c.436C>G	ENSP00000457783.1:p.Pro146Ala
ENST00000567060.5:c.*23C>G	ENSP00000454818.1:n.*23C>G
NM_017882.2:c.625C>G	NP_060352.1:p.Pro209Ala
XR_931861.1:n.847C>G
NM_017882.3:c.625C>G MANE Select	NP_060352.1:p.Pro209Ala