Canonical Allele Identifier: CA7630608

Gene: CLN6

Linked Data

• ClinVar Variation Id: 457972
• ClinVar RCV Id: RCV000551912
• dbSNP Id: rs747229909
• ExAC: 15:68504054 G / A
• gnomAD v2: 15-68504054-G-A
• gnomAD v3: 15-68211716-G-A
• gnomAD v4: 15-68211716-G-A
• MyVariant Identifiers: chr15:g.68504054G>A (hg19) ; chr15:g.68211716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211716G>A , CM000677.2:g.68211716G>A	GRCh38
NC_000015.9:g.68504054G>A , CM000677.1:g.68504054G>A	GRCh37
NC_000015.8:g.66291108G>A	NCBI36
NG_008764.2:g.50496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.445C>T MANE Select	ENSP00000249806.5:p.Arg149Cys
ENST00000562767.2:c.84-14088C>T	ENSP00000456336.1:n.84-14088C>T
ENST00000563917.2:n.287C>T
ENST00000565471.6:c.84-1957C>T	ENSP00000457384.1:n.84-1957C>T
ENST00000635747.1:c.*348C>T	ENSP00000490627.1:n.*348C>T
ENST00000636212.1:c.323C>T	ENSP00000489851.1:p.Pro108Leu
ENST00000636314.1:c.183-398C>T	ENSP00000490295.1:n.183-398C>T
ENST00000636674.1:n.1428C>T
ENST00000636964.1:n.1617C>T
ENST00000637054.1:c.198+6820C>T	ENSP00000490807.1:n.198+6820C>T
ENST00000637223.1:c.*201-398C>T	ENSP00000490010.1:n.*201-398C>T
ENST00000637329.1:c.414C>T
ENST00000637450.1:c.*99C>T	ENSP00000490204.1:n.*99C>T
ENST00000637494.1:c.199-398C>T	ENSP00000490057.1:n.199-398C>T
ENST00000637667.1:c.346C>T	ENSP00000489843.1:p.Arg116Cys
ENST00000637823.1:c.224-73C>T
ENST00000637888.1:c.198+6820C>T	ENSP00000490546.1:n.198+6820C>T
ENST00000638076.1:c.445C>T	ENSP00000490373.1:p.Arg149Cys
ENST00000638144.1:n.130-398C>T
ENST00000646164.1:c.38+6820C>T
ENST00000249806.9:c.445C>T	ENSP00000249806.5:p.Arg149Cys
ENST00000538696.5:c.541C>T	ENSP00000445770.1:p.Arg181Cys
ENST00000562767.1:c.84-14088C>T	ENSP00000456336.1:n.84-14088C>T
ENST00000563917.1:n.226C>T
ENST00000564752.1:c.445C>T	ENSP00000457822.1:p.Arg149Cys
ENST00000565471.5:c.84-1957C>T	ENSP00000457384.1:n.84-1957C>T
ENST00000566347.5:c.298-398C>T	ENSP00000457783.1:n.298-398C>T
ENST00000567060.5:c.298-1996C>T	ENSP00000454818.1:n.298-1996C>T
NM_017882.2:c.445C>T	NP_060352.1:p.Arg149Cys
XR_931861.1:n.548C>T
NM_017882.3:c.445C>T MANE Select	NP_060352.1:p.Arg149Cys