Canonical Allele Identifier: CA491099865

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2745811
• ClinVar RCV Id: RCV003531703
• MyVariant Identifiers: chr15:g.68500583G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208245G>T , CM000677.2:g.68208245G>T	GRCh38
NC_000015.9:g.68500583G>T , CM000677.1:g.68500583G>T	GRCh37
NC_000015.8:g.66287637G>T	NCBI36
NG_008764.2:g.53967C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.831C>A MANE Select	ENSP00000249806.5:p.Val277=
ENST00000562767.2:c.84-10617C>A	ENSP00000456336.1:n.84-10617C>A
ENST00000565471.6:c.372C>A	ENSP00000457384.1:p.Val124=
ENST00000635747.1:c.*734C>A	ENSP00000490627.1:n.*734C>A
ENST00000636212.1:c.*501C>A	ENSP00000489851.1:n.*501C>A
ENST00000636674.1:n.1933C>A
ENST00000636964.1:n.2359C>A
ENST00000637054.1:c.198+10291C>A	ENSP00000490807.1:n.198+10291C>A
ENST00000637329.1:c.800C>A
ENST00000637450.1:c.*485C>A	ENSP00000490204.1:n.*485C>A
ENST00000637494.1:c.543C>A	ENSP00000490057.1:p.Val181=
ENST00000637667.1:c.732C>A	ENSP00000489843.1:p.Val244=
ENST00000637823.1:c.656C>A
ENST00000637888.1:c.198+10291C>A	ENSP00000490546.1:n.198+10291C>A
ENST00000638076.1:c.*434C>A	ENSP00000490373.1:n.*434C>A
ENST00000638144.1:n.474C>A
ENST00000646164.1:c.39-8564C>A
ENST00000249806.9:c.831C>A	ENSP00000249806.5:p.Val277=
ENST00000538696.5:c.927C>A	ENSP00000445770.1:p.Val309=
ENST00000562767.1:c.84-10617C>A	ENSP00000456336.1:n.84-10617C>A
ENST00000565471.5:c.372C>A	ENSP00000457384.1:p.Val124=
ENST00000566347.5:c.642C>A	ENSP00000457783.1:p.Val214=
ENST00000567060.5:c.*229C>A	ENSP00000454818.1:n.*229C>A
NM_017882.2:c.831C>A	NP_060352.1:p.Val277=
NM_017882.3:c.831C>A MANE Select	NP_060352.1:p.Val277=