Canonical Allele Identifier: CA7630662

Gene: CLN6

Linked Data

• ClinVar Variation Id: 964655
• ClinVar RCV Id: RCV001238918 ; RCV001788430
• dbSNP Id: rs104894483
• ExAC: 15:68506711 C / T
• gnomAD v2: 15-68506711-C-T
• gnomAD v3: 15-68214373-C-T
• gnomAD v4: 15-68214373-C-T
• MyVariant Identifiers: chr15:g.68506711C>T (hg19) ; chr15:g.68214373C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214373C>T , CM000677.2:g.68214373C>T	GRCh38
NC_000015.9:g.68506711C>T , CM000677.1:g.68506711C>T	GRCh37
NC_000015.8:g.66293765C>T	NCBI36
NG_008764.2:g.47839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.214G>A MANE Select	ENSP00000249806.5:p.Glu72Lys
ENST00000562767.2:c.83+15129G>A	ENSP00000456336.1:n.83+15129G>A
ENST00000563917.2:n.56G>A
ENST00000565471.6:c.84-4614G>A	ENSP00000457384.1:n.84-4614G>A
ENST00000635747.1:c.*117G>A	ENSP00000490627.1:n.*117G>A
ENST00000635754.1:n.1236G>A
ENST00000636020.1:n.346G>A
ENST00000636212.1:c.214G>A	ENSP00000489851.1:p.Glu72Lys
ENST00000636314.1:c.99G>A	ENSP00000490295.1:p.Ser33=
ENST00000637054.1:c.198+4163G>A	ENSP00000490807.1:n.198+4163G>A
ENST00000637223.1:c.*117G>A	ENSP00000490010.1:n.*117G>A
ENST00000637329.1:c.125G>A
ENST00000637450.1:c.99G>A	ENSP00000490204.1:p.Ser33=
ENST00000637494.1:c.199-3055G>A	ENSP00000490057.1:n.199-3055G>A
ENST00000637667.1:c.199-2510G>A	ENSP00000489843.1:n.199-2510G>A
ENST00000637823.1:c.140G>A
ENST00000637888.1:c.198+4163G>A	ENSP00000490546.1:n.198+4163G>A
ENST00000638076.1:c.214G>A	ENSP00000490373.1:p.Glu72Lys
ENST00000638144.1:n.46G>A
ENST00000646164.1:c.38+4163G>A
ENST00000249806.9:c.214G>A	ENSP00000249806.5:p.Glu72Lys
ENST00000538696.5:c.310G>A	ENSP00000445770.1:p.Glu104Lys
ENST00000562767.1:c.83+15129G>A	ENSP00000456336.1:n.83+15129G>A
ENST00000564752.1:c.214G>A	ENSP00000457822.1:p.Glu72Lys
ENST00000564846.1:n.646G>A
ENST00000565471.5:c.84-4614G>A	ENSP00000457384.1:n.84-4614G>A
ENST00000566347.5:c.214G>A	ENSP00000457783.1:p.Glu72Lys
ENST00000567060.5:c.214G>A	ENSP00000454818.1:p.Glu72Lys
NM_017882.2:c.214G>A	NP_060352.1:p.Glu72Lys
XR_931861.1:n.317G>A
NM_017882.3:c.214G>A MANE Select	NP_060352.1:p.Glu72Lys