Canonical Allele Identifier: CA490911484

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1108455
• ClinVar RCV Id: RCV001433933
• dbSNP Id: rs1486759204
• MyVariant Identifiers: chr15:g.68500733C>T (hg19) ; chr15:g.68208395C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208395C>T , CM000677.2:g.68208395C>T	GRCh38
NC_000015.9:g.68500733C>T , CM000677.1:g.68500733C>T	GRCh37
NC_000015.8:g.66287787C>T	NCBI36
NG_008764.2:g.53817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.681G>A MANE Select	ENSP00000249806.5:p.Glu227=
ENST00000562767.2:c.84-10767G>A	ENSP00000456336.1:n.84-10767G>A
ENST00000563917.2:n.523G>A
ENST00000565471.6:c.222G>A	ENSP00000457384.1:p.Glu74=
ENST00000635747.1:c.*584G>A	ENSP00000490627.1:n.*584G>A
ENST00000636212.1:c.*351G>A	ENSP00000489851.1:n.*351G>A
ENST00000636674.1:n.1783G>A
ENST00000636964.1:n.2209G>A
ENST00000637054.1:c.198+10141G>A	ENSP00000490807.1:n.198+10141G>A
ENST00000637329.1:c.650G>A
ENST00000637450.1:c.*335G>A	ENSP00000490204.1:n.*335G>A
ENST00000637494.1:c.393G>A	ENSP00000490057.1:p.Glu131=
ENST00000637667.1:c.582G>A	ENSP00000489843.1:p.Glu194=
ENST00000637823.1:c.506G>A
ENST00000637888.1:c.198+10141G>A	ENSP00000490546.1:n.198+10141G>A
ENST00000638076.1:c.*284G>A	ENSP00000490373.1:n.*284G>A
ENST00000638144.1:n.324G>A
ENST00000646164.1:c.39-8714G>A
ENST00000249806.9:c.681G>A	ENSP00000249806.5:p.Glu227=
ENST00000538696.5:c.777G>A	ENSP00000445770.1:p.Glu259=
ENST00000562767.1:c.84-10767G>A	ENSP00000456336.1:n.84-10767G>A
ENST00000564752.1:c.*65G>A	ENSP00000457822.1:n.*65G>A
ENST00000565471.5:c.222G>A	ENSP00000457384.1:p.Glu74=
ENST00000566347.5:c.492G>A	ENSP00000457783.1:p.Glu164=
ENST00000567060.5:c.*79G>A	ENSP00000454818.1:n.*79G>A
NM_017882.2:c.681G>A	NP_060352.1:p.Glu227=
NM_017882.3:c.681G>A MANE Select	NP_060352.1:p.Glu227=