Canonical Allele Identifier: CA392972796

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501984A>T (hg19) ; chr15:g.68209646A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209646A>T , CM000677.2:g.68209646A>T	GRCh38
NC_000015.9:g.68501984A>T , CM000677.1:g.68501984A>T	GRCh37
NC_000015.8:g.66289038A>T	NCBI36
NG_008764.2:g.52566T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.656T>A MANE Select	ENSP00000249806.5:p.Leu219Gln
ENST00000562767.2:c.84-12018T>A	ENSP00000456336.1:n.84-12018T>A
ENST00000563917.2:n.498T>A
ENST00000565471.6:c.197T>A	ENSP00000457384.1:p.Leu66Gln
ENST00000635747.1:c.*559T>A	ENSP00000490627.1:n.*559T>A
ENST00000636212.1:c.*326T>A	ENSP00000489851.1:n.*326T>A
ENST00000636674.1:n.1758T>A
ENST00000636964.1:n.2184T>A
ENST00000637054.1:c.198+8890T>A	ENSP00000490807.1:n.198+8890T>A
ENST00000637329.1:c.625T>A
ENST00000637450.1:c.*310T>A	ENSP00000490204.1:n.*310T>A
ENST00000637494.1:c.368T>A	ENSP00000490057.1:p.Leu123Gln
ENST00000637667.1:c.557T>A	ENSP00000489843.1:p.Leu186Gln
ENST00000637823.1:c.481T>A
ENST00000637888.1:c.198+8890T>A	ENSP00000490546.1:n.198+8890T>A
ENST00000638076.1:c.*259T>A	ENSP00000490373.1:n.*259T>A
ENST00000638144.1:n.299T>A
ENST00000646164.1:c.38+8890T>A
ENST00000249806.9:c.656T>A	ENSP00000249806.5:p.Leu219Gln
ENST00000538696.5:c.752T>A	ENSP00000445770.1:p.Leu251Gln
ENST00000562767.1:c.84-12018T>A	ENSP00000456336.1:n.84-12018T>A
ENST00000563917.1:n.556T>A
ENST00000564752.1:c.*40T>A	ENSP00000457822.1:n.*40T>A
ENST00000565471.5:c.197T>A	ENSP00000457384.1:p.Leu66Gln
ENST00000566347.5:c.467T>A	ENSP00000457783.1:p.Leu156Gln
ENST00000567060.5:c.*54T>A	ENSP00000454818.1:n.*54T>A
NM_017882.2:c.656T>A	NP_060352.1:p.Leu219Gln
XR_931861.1:n.878T>A
NM_017882.3:c.656T>A MANE Select	NP_060352.1:p.Leu219Gln