Canonical Allele Identifier: CA7630519

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1961576
• ClinVar RCV Id: RCV002720779
• dbSNP Id: rs765491294
• ExAC: 15:68502000 C / T
• gnomAD v2: 15-68502000-C-T
• gnomAD v4: 15-68209662-C-T
• MyVariant Identifiers: chr15:g.68502000C>T (hg19) ; chr15:g.68209662C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209662C>T , CM000677.2:g.68209662C>T	GRCh38
NC_000015.9:g.68502000C>T , CM000677.1:g.68502000C>T	GRCh37
NC_000015.8:g.66289054C>T	NCBI36
NG_008764.2:g.52550G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.640G>A MANE Select	ENSP00000249806.5:p.Val214Met
ENST00000562767.2:c.84-12034G>A	ENSP00000456336.1:n.84-12034G>A
ENST00000563917.2:n.482G>A
ENST00000565471.6:c.181G>A	ENSP00000457384.1:p.Val61Met
ENST00000635747.1:c.*543G>A	ENSP00000490627.1:n.*543G>A
ENST00000636212.1:c.*310G>A	ENSP00000489851.1:n.*310G>A
ENST00000636674.1:n.1742G>A
ENST00000636964.1:n.2168G>A
ENST00000637054.1:c.198+8874G>A	ENSP00000490807.1:n.198+8874G>A
ENST00000637329.1:c.609G>A
ENST00000637450.1:c.*294G>A	ENSP00000490204.1:n.*294G>A
ENST00000637494.1:c.352G>A	ENSP00000490057.1:p.Val118Met
ENST00000637667.1:c.541G>A	ENSP00000489843.1:p.Val181Met
ENST00000637823.1:c.465G>A
ENST00000637888.1:c.198+8874G>A	ENSP00000490546.1:n.198+8874G>A
ENST00000638076.1:c.*243G>A	ENSP00000490373.1:n.*243G>A
ENST00000638144.1:n.283G>A
ENST00000646164.1:c.38+8874G>A
ENST00000249806.9:c.640G>A	ENSP00000249806.5:p.Val214Met
ENST00000538696.5:c.736G>A	ENSP00000445770.1:p.Val246Met
ENST00000562767.1:c.84-12034G>A	ENSP00000456336.1:n.84-12034G>A
ENST00000563917.1:n.540G>A
ENST00000564752.1:c.*24G>A	ENSP00000457822.1:n.*24G>A
ENST00000565471.5:c.181G>A	ENSP00000457384.1:p.Val61Met
ENST00000566347.5:c.451G>A	ENSP00000457783.1:p.Val151Met
ENST00000567060.5:c.*38G>A	ENSP00000454818.1:n.*38G>A
NM_017882.2:c.640G>A	NP_060352.1:p.Val214Met
XR_931861.1:n.862G>A
NM_017882.3:c.640G>A MANE Select	NP_060352.1:p.Val214Met