Canonical Allele Identifier: CA392972155

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500695G>C (hg19) ; chr15:g.68208357G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208357G>C , CM000677.2:g.68208357G>C	GRCh38
NC_000015.9:g.68500695G>C , CM000677.1:g.68500695G>C	GRCh37
NC_000015.8:g.66287749G>C	NCBI36
NG_008764.2:g.53855C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.719C>G MANE Select	ENSP00000249806.5:p.Ala240Gly
ENST00000562767.2:c.84-10729C>G	ENSP00000456336.1:n.84-10729C>G
ENST00000565471.6:c.260C>G	ENSP00000457384.1:p.Ala87Gly
ENST00000635747.1:c.*622C>G	ENSP00000490627.1:n.*622C>G
ENST00000636212.1:c.*389C>G	ENSP00000489851.1:n.*389C>G
ENST00000636674.1:n.1821C>G
ENST00000636964.1:n.2247C>G
ENST00000637054.1:c.198+10179C>G	ENSP00000490807.1:n.198+10179C>G
ENST00000637329.1:c.688C>G
ENST00000637450.1:c.*373C>G	ENSP00000490204.1:n.*373C>G
ENST00000637494.1:c.431C>G	ENSP00000490057.1:p.Ala144Gly
ENST00000637667.1:c.620C>G	ENSP00000489843.1:p.Ala207Gly
ENST00000637823.1:c.544C>G
ENST00000637888.1:c.198+10179C>G	ENSP00000490546.1:n.198+10179C>G
ENST00000638076.1:c.*322C>G	ENSP00000490373.1:n.*322C>G
ENST00000638144.1:n.362C>G
ENST00000646164.1:c.39-8676C>G
ENST00000249806.9:c.719C>G	ENSP00000249806.5:p.Ala240Gly
ENST00000538696.5:c.815C>G	ENSP00000445770.1:p.Ala272Gly
ENST00000562767.1:c.84-10729C>G	ENSP00000456336.1:n.84-10729C>G
ENST00000564752.1:c.*103C>G	ENSP00000457822.1:n.*103C>G
ENST00000565471.5:c.260C>G	ENSP00000457384.1:p.Ala87Gly
ENST00000566347.5:c.530C>G	ENSP00000457783.1:p.Ala177Gly
ENST00000567060.5:c.*117C>G	ENSP00000454818.1:n.*117C>G
NM_017882.2:c.719C>G	NP_060352.1:p.Ala240Gly
NM_017882.3:c.719C>G MANE Select	NP_060352.1:p.Ala240Gly