Canonical Allele Identifier: CA272384665

Gene: CLN6

Linked Data

• dbSNP Id: rs1007902706
• gnomAD v4: 15-68211829-G-A
• MyVariant Identifiers: chr15:g.68504167G>A (hg19) ; chr15:g.68211829G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211829G>A , CM000677.2:g.68211829G>A	GRCh38
NC_000015.9:g.68504167G>A , CM000677.1:g.68504167G>A	GRCh37
NC_000015.8:g.66291221G>A	NCBI36
NG_008764.2:g.50383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.332C>T MANE Select	ENSP00000249806.5:p.Ser111Phe
ENST00000562767.2:c.84-14201C>T	ENSP00000456336.1:n.84-14201C>T
ENST00000563917.2:n.174C>T
ENST00000565471.6:c.84-2070C>T	ENSP00000457384.1:n.84-2070C>T
ENST00000635747.1:c.*235C>T	ENSP00000490627.1:n.*235C>T
ENST00000636212.1:c.298-88C>T	ENSP00000489851.1:n.298-88C>T
ENST00000636314.1:c.183-511C>T	ENSP00000490295.1:n.183-511C>T
ENST00000636674.1:n.1315C>T
ENST00000636964.1:n.1504C>T
ENST00000637054.1:c.198+6707C>T	ENSP00000490807.1:n.198+6707C>T
ENST00000637223.1:c.*201-511C>T	ENSP00000490010.1:n.*201-511C>T
ENST00000637329.1:c.301C>T
ENST00000637450.1:c.217C>T	ENSP00000490204.1:p.Pro73Ser
ENST00000637494.1:c.199-511C>T	ENSP00000490057.1:n.199-511C>T
ENST00000637667.1:c.233C>T	ENSP00000489843.1:p.Ser78Phe
ENST00000637823.1:c.224-186C>T
ENST00000637888.1:c.198+6707C>T	ENSP00000490546.1:n.198+6707C>T
ENST00000638076.1:c.332C>T	ENSP00000490373.1:p.Ser111Phe
ENST00000638144.1:n.130-511C>T
ENST00000646164.1:c.38+6707C>T
ENST00000249806.9:c.332C>T	ENSP00000249806.5:p.Ser111Phe
ENST00000538696.5:c.428C>T	ENSP00000445770.1:p.Ser143Phe
ENST00000562767.1:c.84-14201C>T	ENSP00000456336.1:n.84-14201C>T
ENST00000563917.1:n.113C>T
ENST00000564752.1:c.332C>T	ENSP00000457822.1:p.Ser111Phe
ENST00000565471.5:c.84-2070C>T	ENSP00000457384.1:n.84-2070C>T
ENST00000566347.5:c.298-511C>T	ENSP00000457783.1:n.298-511C>T
ENST00000567060.5:c.298-2109C>T	ENSP00000454818.1:n.298-2109C>T
NM_017882.2:c.332C>T	NP_060352.1:p.Ser111Phe
XR_931861.1:n.435C>T
NM_017882.3:c.332C>T MANE Select	NP_060352.1:p.Ser111Phe