Canonical Allele Identifier: CA392972995

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502070G>C (hg19) ; chr15:g.68209732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209732G>C , CM000677.2:g.68209732G>C	GRCh38
NC_000015.9:g.68502070G>C , CM000677.1:g.68502070G>C	GRCh37
NC_000015.8:g.66289124G>C	NCBI36
NG_008764.2:g.52480C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.570C>G MANE Select	ENSP00000249806.5:p.Phe190Leu
ENST00000562767.2:c.84-12104C>G	ENSP00000456336.1:n.84-12104C>G
ENST00000563917.2:n.412C>G
ENST00000565471.6:c.111C>G	ENSP00000457384.1:p.Phe37Leu
ENST00000635747.1:c.*473C>G	ENSP00000490627.1:n.*473C>G
ENST00000636212.1:c.*240C>G	ENSP00000489851.1:n.*240C>G
ENST00000636314.1:c.266C>G	ENSP00000490295.1:p.Ser89Ter
ENST00000636674.1:n.1672C>G
ENST00000636964.1:n.2098C>G
ENST00000637054.1:c.198+8804C>G	ENSP00000490807.1:n.198+8804C>G
ENST00000637223.1:c.*284C>G	ENSP00000490010.1:n.*284C>G
ENST00000637329.1:c.539C>G
ENST00000637450.1:c.*224C>G	ENSP00000490204.1:n.*224C>G
ENST00000637494.1:c.282C>G	ENSP00000490057.1:p.Phe94Leu
ENST00000637667.1:c.471C>G	ENSP00000489843.1:p.Phe157Leu
ENST00000637823.1:c.395C>G
ENST00000637888.1:c.198+8804C>G	ENSP00000490546.1:n.198+8804C>G
ENST00000638076.1:c.*173C>G	ENSP00000490373.1:n.*173C>G
ENST00000638144.1:n.213C>G
ENST00000646164.1:c.38+8804C>G
ENST00000249806.9:c.570C>G	ENSP00000249806.5:p.Phe190Leu
ENST00000538696.5:c.666C>G	ENSP00000445770.1:p.Phe222Leu
ENST00000562767.1:c.84-12104C>G	ENSP00000456336.1:n.84-12104C>G
ENST00000563917.1:n.470C>G
ENST00000564752.1:c.596C>G	ENSP00000457822.1:p.Ser199Ter
ENST00000565471.5:c.111C>G	ENSP00000457384.1:p.Phe37Leu
ENST00000566347.5:c.381C>G	ENSP00000457783.1:p.Phe127Leu
ENST00000567060.5:c.298-12C>G	ENSP00000454818.1:n.298-12C>G
NM_017882.2:c.570C>G	NP_060352.1:p.Phe190Leu
XR_931861.1:n.792C>G
NM_017882.3:c.570C>G MANE Select	NP_060352.1:p.Phe190Leu