Canonical Allele Identifier: CA491099879

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500595C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208257C>A , CM000677.2:g.68208257C>A	GRCh38
NC_000015.9:g.68500595C>A , CM000677.1:g.68500595C>A	GRCh37
NC_000015.8:g.66287649C>A	NCBI36
NG_008764.2:g.53955G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.819G>T MANE Select	ENSP00000249806.5:p.Val273=
ENST00000562767.2:c.84-10629G>T	ENSP00000456336.1:n.84-10629G>T
ENST00000565471.6:c.360G>T	ENSP00000457384.1:p.Val120=
ENST00000635747.1:c.*722G>T	ENSP00000490627.1:n.*722G>T
ENST00000636212.1:c.*489G>T	ENSP00000489851.1:n.*489G>T
ENST00000636674.1:n.1921G>T
ENST00000636964.1:n.2347G>T
ENST00000637054.1:c.198+10279G>T	ENSP00000490807.1:n.198+10279G>T
ENST00000637329.1:c.788G>T
ENST00000637450.1:c.*473G>T	ENSP00000490204.1:n.*473G>T
ENST00000637494.1:c.531G>T	ENSP00000490057.1:p.Val177=
ENST00000637667.1:c.720G>T	ENSP00000489843.1:p.Val240=
ENST00000637823.1:c.644G>T
ENST00000637888.1:c.198+10279G>T	ENSP00000490546.1:n.198+10279G>T
ENST00000638076.1:c.*422G>T	ENSP00000490373.1:n.*422G>T
ENST00000638144.1:n.462G>T
ENST00000646164.1:c.39-8576G>T
ENST00000249806.9:c.819G>T	ENSP00000249806.5:p.Val273=
ENST00000538696.5:c.915G>T	ENSP00000445770.1:p.Val305=
ENST00000562767.1:c.84-10629G>T	ENSP00000456336.1:n.84-10629G>T
ENST00000565471.5:c.360G>T	ENSP00000457384.1:p.Val120=
ENST00000566347.5:c.630G>T	ENSP00000457783.1:p.Val210=
ENST00000567060.5:c.*217G>T	ENSP00000454818.1:n.*217G>T
NM_017882.2:c.819G>T	NP_060352.1:p.Val273=
NM_017882.3:c.819G>T MANE Select	NP_060352.1:p.Val273=