Canonical Allele Identifier: CA392971668

Gene: CLN6

Linked Data

• dbSNP Id: rs2093193497
• gnomAD v3: 15-68208199-C-T
• gnomAD v4: 15-68208199-C-T
• MyVariant Identifiers: chr15:g.68500537C>T (hg19) ; chr15:g.68208199C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208199C>T , CM000677.2:g.68208199C>T	GRCh38
NC_000015.9:g.68500537C>T , CM000677.1:g.68500537C>T	GRCh37
NC_000015.8:g.66287591C>T	NCBI36
NG_008764.2:g.54013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.877G>A MANE Select	ENSP00000249806.5:p.Val293Ile
ENST00000562767.2:c.84-10571G>A	ENSP00000456336.1:n.84-10571G>A
ENST00000565471.6:c.418G>A	ENSP00000457384.1:p.Val140Ile
ENST00000635747.1:c.*780G>A	ENSP00000490627.1:n.*780G>A
ENST00000636212.1:c.*547G>A	ENSP00000489851.1:n.*547G>A
ENST00000636674.1:n.1979G>A
ENST00000636964.1:n.2405G>A
ENST00000637054.1:c.198+10337G>A	ENSP00000490807.1:n.198+10337G>A
ENST00000637329.1:c.846G>A
ENST00000637450.1:c.*531G>A	ENSP00000490204.1:n.*531G>A
ENST00000637494.1:c.589G>A	ENSP00000490057.1:p.Val197Ile
ENST00000637823.1:c.702G>A
ENST00000637888.1:c.198+10337G>A	ENSP00000490546.1:n.198+10337G>A
ENST00000638076.1:c.*480G>A	ENSP00000490373.1:n.*480G>A
ENST00000638144.1:n.520G>A
ENST00000646164.1:c.39-8518G>A
ENST00000249806.9:c.877G>A	ENSP00000249806.5:p.Val293Ile
ENST00000538696.5:c.973G>A	ENSP00000445770.1:p.Val325Ile
ENST00000562767.1:c.84-10571G>A	ENSP00000456336.1:n.84-10571G>A
ENST00000565471.5:c.418G>A	ENSP00000457384.1:p.Val140Ile
ENST00000566347.5:c.688G>A	ENSP00000457783.1:p.Val230Ile
ENST00000567060.5:c.*275G>A	ENSP00000454818.1:n.*275G>A
NM_017882.2:c.877G>A	NP_060352.1:p.Val293Ile
NM_017882.3:c.877G>A MANE Select	NP_060352.1:p.Val293Ile