Canonical Allele Identifier: CA392971925

Gene: CLN6

Linked Data

• dbSNP Id: rs140319056
• MyVariant Identifiers: chr15:g.68500616G>C (hg19) ; chr15:g.68208278G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208278G>C , CM000677.2:g.68208278G>C	GRCh38
NC_000015.9:g.68500616G>C , CM000677.1:g.68500616G>C	GRCh37
NC_000015.8:g.66287670G>C	NCBI36
NG_008764.2:g.53934C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.798C>G MANE Select	ENSP00000249806.5:p.Phe266Leu
ENST00000562767.2:c.84-10650C>G	ENSP00000456336.1:n.84-10650C>G
ENST00000565471.6:c.339C>G	ENSP00000457384.1:p.Phe113Leu
ENST00000635747.1:c.*701C>G	ENSP00000490627.1:n.*701C>G
ENST00000636212.1:c.*468C>G	ENSP00000489851.1:n.*468C>G
ENST00000636674.1:n.1900C>G
ENST00000636964.1:n.2326C>G
ENST00000637054.1:c.198+10258C>G	ENSP00000490807.1:n.198+10258C>G
ENST00000637329.1:c.767C>G
ENST00000637450.1:c.*452C>G	ENSP00000490204.1:n.*452C>G
ENST00000637494.1:c.510C>G	ENSP00000490057.1:p.Phe170Leu
ENST00000637667.1:c.699C>G	ENSP00000489843.1:p.Phe233Leu
ENST00000637823.1:c.623C>G
ENST00000637888.1:c.198+10258C>G	ENSP00000490546.1:n.198+10258C>G
ENST00000638076.1:c.*401C>G	ENSP00000490373.1:n.*401C>G
ENST00000638144.1:n.441C>G
ENST00000646164.1:c.39-8597C>G
ENST00000249806.9:c.798C>G	ENSP00000249806.5:p.Phe266Leu
ENST00000538696.5:c.894C>G	ENSP00000445770.1:p.Phe298Leu
ENST00000562767.1:c.84-10650C>G	ENSP00000456336.1:n.84-10650C>G
ENST00000565471.5:c.339C>G	ENSP00000457384.1:p.Phe113Leu
ENST00000566347.5:c.609C>G	ENSP00000457783.1:p.Phe203Leu
ENST00000567060.5:c.*196C>G	ENSP00000454818.1:n.*196C>G
NM_017882.2:c.798C>G	NP_060352.1:p.Phe266Leu
NM_017882.3:c.798C>G MANE Select	NP_060352.1:p.Phe266Leu