Canonical Allele Identifier: CA392973514

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1953053
• ClinVar RCV Id: RCV002672189
• dbSNP Id: rs2093206190
• MyVariant Identifiers: chr15:g.68504111C>T (hg19) ; chr15:g.68211773C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211773C>T , CM000677.2:g.68211773C>T	GRCh38
NC_000015.9:g.68504111C>T , CM000677.1:g.68504111C>T	GRCh37
NC_000015.8:g.66291165C>T	NCBI36
NG_008764.2:g.50439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.388G>A MANE Select	ENSP00000249806.5:p.Gly130Ser
ENST00000562767.2:c.84-14145G>A	ENSP00000456336.1:n.84-14145G>A
ENST00000563917.2:n.230G>A
ENST00000565471.6:c.84-2014G>A	ENSP00000457384.1:n.84-2014G>A
ENST00000635747.1:c.*291G>A	ENSP00000490627.1:n.*291G>A
ENST00000636212.1:c.298-32G>A	ENSP00000489851.1:n.298-32G>A
ENST00000636314.1:c.183-455G>A	ENSP00000490295.1:n.183-455G>A
ENST00000636674.1:n.1371G>A
ENST00000636964.1:n.1560G>A
ENST00000637054.1:c.198+6763G>A	ENSP00000490807.1:n.198+6763G>A
ENST00000637223.1:c.*201-455G>A	ENSP00000490010.1:n.*201-455G>A
ENST00000637329.1:c.357G>A
ENST00000637450.1:c.*42G>A	ENSP00000490204.1:n.*42G>A
ENST00000637494.1:c.199-455G>A	ENSP00000490057.1:n.199-455G>A
ENST00000637667.1:c.289G>A	ENSP00000489843.1:p.Gly97Ser
ENST00000637823.1:c.224-130G>A
ENST00000637888.1:c.198+6763G>A	ENSP00000490546.1:n.198+6763G>A
ENST00000638076.1:c.388G>A	ENSP00000490373.1:p.Gly130Ser
ENST00000638144.1:n.130-455G>A
ENST00000646164.1:c.38+6763G>A
ENST00000249806.9:c.388G>A	ENSP00000249806.5:p.Gly130Ser
ENST00000538696.5:c.484G>A	ENSP00000445770.1:p.Gly162Ser
ENST00000562767.1:c.84-14145G>A	ENSP00000456336.1:n.84-14145G>A
ENST00000563917.1:n.169G>A
ENST00000564752.1:c.388G>A	ENSP00000457822.1:p.Gly130Ser
ENST00000565471.5:c.84-2014G>A	ENSP00000457384.1:n.84-2014G>A
ENST00000566347.5:c.298-455G>A	ENSP00000457783.1:n.298-455G>A
ENST00000567060.5:c.298-2053G>A	ENSP00000454818.1:n.298-2053G>A
NM_017882.2:c.388G>A	NP_060352.1:p.Gly130Ser
XR_931861.1:n.491G>A
NM_017882.3:c.388G>A MANE Select	NP_060352.1:p.Gly130Ser