Canonical Allele Identifier: CA392971810

Gene: CLN6

Linked Data

• ClinVar Variation Id: 556320
• ClinVar RCV Id: RCV000672314 ; RCV002532122
• dbSNP Id: rs1555438212
• gnomAD v3: 15-68208239-C-T
• gnomAD v4: 15-68208239-C-T
• MyVariant Identifiers: chr15:g.68500577C>T (hg19) ; chr15:g.68208239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208239C>T , CM000677.2:g.68208239C>T	GRCh38
NC_000015.9:g.68500577C>T , CM000677.1:g.68500577C>T	GRCh37
NC_000015.8:g.66287631C>T	NCBI36
NG_008764.2:g.53973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.837G>A MANE Select	ENSP00000249806.5:p.Trp279Ter
ENST00000562767.2:c.84-10611G>A	ENSP00000456336.1:n.84-10611G>A
ENST00000565471.6:c.378G>A	ENSP00000457384.1:p.Trp126Ter
ENST00000635747.1:c.*740G>A	ENSP00000490627.1:n.*740G>A
ENST00000636212.1:c.*507G>A	ENSP00000489851.1:n.*507G>A
ENST00000636674.1:n.1939G>A
ENST00000636964.1:n.2365G>A
ENST00000637054.1:c.198+10297G>A	ENSP00000490807.1:n.198+10297G>A
ENST00000637329.1:c.806G>A
ENST00000637450.1:c.*491G>A	ENSP00000490204.1:n.*491G>A
ENST00000637494.1:c.549G>A	ENSP00000490057.1:p.Trp183Ter
ENST00000637667.1:c.738G>A	ENSP00000489843.1:p.Trp246Ter
ENST00000637823.1:c.662G>A
ENST00000637888.1:c.198+10297G>A	ENSP00000490546.1:n.198+10297G>A
ENST00000638076.1:c.*440G>A	ENSP00000490373.1:n.*440G>A
ENST00000638144.1:n.480G>A
ENST00000646164.1:c.39-8558G>A
ENST00000249806.9:c.837G>A	ENSP00000249806.5:p.Trp279Ter
ENST00000538696.5:c.933G>A	ENSP00000445770.1:p.Trp311Ter
ENST00000562767.1:c.84-10611G>A	ENSP00000456336.1:n.84-10611G>A
ENST00000565471.5:c.378G>A	ENSP00000457384.1:p.Trp126Ter
ENST00000566347.5:c.648G>A	ENSP00000457783.1:p.Trp216Ter
ENST00000567060.5:c.*235G>A	ENSP00000454818.1:n.*235G>A
NM_017882.2:c.837G>A	NP_060352.1:p.Trp279Ter
NM_017882.3:c.837G>A MANE Select	NP_060352.1:p.Trp279Ter