Canonical Allele Identifier: CA392972323

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2980390
• ClinVar RCV Id: RCV003837564
• MyVariant Identifiers: chr15:g.68500729G>C (hg19) ; chr15:g.68208391G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208391G>C , CM000677.2:g.68208391G>C	GRCh38
NC_000015.9:g.68500729G>C , CM000677.1:g.68500729G>C	GRCh37
NC_000015.8:g.66287783G>C	NCBI36
NG_008764.2:g.53821C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.685C>G MANE Select	ENSP00000249806.5:p.Gln229Glu
ENST00000562767.2:c.84-10763C>G	ENSP00000456336.1:n.84-10763C>G
ENST00000563917.2:n.527C>G
ENST00000565471.6:c.226C>G	ENSP00000457384.1:p.Gln76Glu
ENST00000635747.1:c.*588C>G	ENSP00000490627.1:n.*588C>G
ENST00000636212.1:c.*355C>G	ENSP00000489851.1:n.*355C>G
ENST00000636674.1:n.1787C>G
ENST00000636964.1:n.2213C>G
ENST00000637054.1:c.198+10145C>G	ENSP00000490807.1:n.198+10145C>G
ENST00000637329.1:c.654C>G
ENST00000637450.1:c.*339C>G	ENSP00000490204.1:n.*339C>G
ENST00000637494.1:c.397C>G	ENSP00000490057.1:p.Gln133Glu
ENST00000637667.1:c.586C>G	ENSP00000489843.1:p.Gln196Glu
ENST00000637823.1:c.510C>G
ENST00000637888.1:c.198+10145C>G	ENSP00000490546.1:n.198+10145C>G
ENST00000638076.1:c.*288C>G	ENSP00000490373.1:n.*288C>G
ENST00000638144.1:n.328C>G
ENST00000646164.1:c.39-8710C>G
ENST00000249806.9:c.685C>G	ENSP00000249806.5:p.Gln229Glu
ENST00000538696.5:c.781C>G	ENSP00000445770.1:p.Gln261Glu
ENST00000562767.1:c.84-10763C>G	ENSP00000456336.1:n.84-10763C>G
ENST00000564752.1:c.*69C>G	ENSP00000457822.1:n.*69C>G
ENST00000565471.5:c.226C>G	ENSP00000457384.1:p.Gln76Glu
ENST00000566347.5:c.496C>G	ENSP00000457783.1:p.Gln166Glu
ENST00000567060.5:c.*83C>G	ENSP00000454818.1:n.*83C>G
NM_017882.2:c.685C>G	NP_060352.1:p.Gln229Glu
NM_017882.3:c.685C>G MANE Select	NP_060352.1:p.Gln229Glu