Canonical Allele Identifier: CA392973068

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502097C>A (hg19) ; chr15:g.68209759C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209759C>A , CM000677.2:g.68209759C>A	GRCh38
NC_000015.9:g.68502097C>A , CM000677.1:g.68502097C>A	GRCh37
NC_000015.8:g.66289151C>A	NCBI36
NG_008764.2:g.52453G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543G>T MANE Select	ENSP00000249806.5:p.Trp181Cys
ENST00000562767.2:c.84-12131G>T	ENSP00000456336.1:n.84-12131G>T
ENST00000563917.2:n.385G>T
ENST00000565471.6:c.84G>T	ENSP00000457384.1:p.Arg28Ser
ENST00000635747.1:c.*446G>T	ENSP00000490627.1:n.*446G>T
ENST00000636212.1:c.*213G>T	ENSP00000489851.1:n.*213G>T
ENST00000636314.1:c.239G>T	ENSP00000490295.1:p.Gly80Val
ENST00000636674.1:n.1645G>T
ENST00000636964.1:n.2071G>T
ENST00000637054.1:c.198+8777G>T	ENSP00000490807.1:n.198+8777G>T
ENST00000637223.1:c.*257G>T	ENSP00000490010.1:n.*257G>T
ENST00000637329.1:c.512G>T
ENST00000637450.1:c.*197G>T	ENSP00000490204.1:n.*197G>T
ENST00000637494.1:c.255G>T	ENSP00000490057.1:p.Trp85Cys
ENST00000637667.1:c.444G>T	ENSP00000489843.1:p.Trp148Cys
ENST00000637823.1:c.368G>T
ENST00000637888.1:c.198+8777G>T	ENSP00000490546.1:n.198+8777G>T
ENST00000638076.1:c.*146G>T	ENSP00000490373.1:n.*146G>T
ENST00000638144.1:n.186G>T
ENST00000646164.1:c.38+8777G>T
ENST00000249806.9:c.543G>T	ENSP00000249806.5:p.Trp181Cys
ENST00000538696.5:c.639G>T	ENSP00000445770.1:p.Trp213Cys
ENST00000562767.1:c.84-12131G>T	ENSP00000456336.1:n.84-12131G>T
ENST00000563917.1:n.443G>T
ENST00000564752.1:c.569G>T	ENSP00000457822.1:p.Gly190Val
ENST00000565471.5:c.84G>T	ENSP00000457384.1:p.Arg28Ser
ENST00000566347.5:c.354G>T	ENSP00000457783.1:p.Trp118Cys
ENST00000567060.5:c.298-39G>T	ENSP00000454818.1:n.298-39G>T
NM_017882.2:c.543G>T	NP_060352.1:p.Trp181Cys
XR_931861.1:n.765G>T
NM_017882.3:c.543G>T MANE Select	NP_060352.1:p.Trp181Cys