Canonical Allele Identifier: CA7630438

Gene: CLN6

Linked Data

• ClinVar Variation Id: 582187
• ClinVar RCV Id: RCV000706190
• dbSNP Id: rs769900670
• ExAC: 15:68500485 C / T
• gnomAD v2: 15-68500485-C-T
• gnomAD v3: 15-68208147-C-T
• gnomAD v4: 15-68208147-C-T
• MyVariant Identifiers: chr15:g.68500485C>T (hg19) ; chr15:g.68208147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208147C>T , CM000677.2:g.68208147C>T	GRCh38
NC_000015.9:g.68500485C>T , CM000677.1:g.68500485C>T	GRCh37
NC_000015.8:g.66287539C>T	NCBI36
NG_008764.2:g.54065G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.929G>A MANE Select	ENSP00000249806.5:p.Arg310Gln
ENST00000562767.2:c.84-10519G>A	ENSP00000456336.1:n.84-10519G>A
ENST00000565471.6:c.470G>A	ENSP00000457384.1:p.Arg157Gln
ENST00000635747.1:c.*832G>A	ENSP00000490627.1:n.*832G>A
ENST00000636964.1:n.2457G>A
ENST00000637054.1:c.198+10389G>A	ENSP00000490807.1:n.198+10389G>A
ENST00000637329.1:c.898G>A
ENST00000637494.1:c.641G>A	ENSP00000490057.1:p.Arg214Gln
ENST00000637888.1:c.198+10389G>A	ENSP00000490546.1:n.198+10389G>A
ENST00000638076.1:c.*532G>A	ENSP00000490373.1:n.*532G>A
ENST00000638144.1:n.572G>A
ENST00000646164.1:c.39-8466G>A
ENST00000249806.9:c.929G>A	ENSP00000249806.5:p.Arg310Gln
ENST00000538696.5:c.1025G>A	ENSP00000445770.1:p.Arg342Gln
ENST00000562767.1:c.84-10519G>A	ENSP00000456336.1:n.84-10519G>A
ENST00000565471.5:c.470G>A	ENSP00000457384.1:p.Arg157Gln
ENST00000566347.5:c.740G>A	ENSP00000457783.1:p.Arg247Gln
ENST00000567060.5:c.*327G>A	ENSP00000454818.1:n.*327G>A
NM_017882.2:c.929G>A	NP_060352.1:p.Arg310Gln
NM_017882.3:c.929G>A MANE Select	NP_060352.1:p.Arg310Gln