Canonical Allele Identifier: CA491100075

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500718G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208380G>T , CM000677.2:g.68208380G>T	GRCh38
NC_000015.9:g.68500718G>T , CM000677.1:g.68500718G>T	GRCh37
NC_000015.8:g.66287772G>T	NCBI36
NG_008764.2:g.53832C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.696C>A MANE Select	ENSP00000249806.5:p.Ile232=
ENST00000562767.2:c.84-10752C>A	ENSP00000456336.1:n.84-10752C>A
ENST00000563917.2:n.538C>A
ENST00000565471.6:c.237C>A	ENSP00000457384.1:p.Ile79=
ENST00000635747.1:c.*599C>A	ENSP00000490627.1:n.*599C>A
ENST00000636212.1:c.*366C>A	ENSP00000489851.1:n.*366C>A
ENST00000636674.1:n.1798C>A
ENST00000636964.1:n.2224C>A
ENST00000637054.1:c.198+10156C>A	ENSP00000490807.1:n.198+10156C>A
ENST00000637329.1:c.665C>A
ENST00000637450.1:c.*350C>A	ENSP00000490204.1:n.*350C>A
ENST00000637494.1:c.408C>A	ENSP00000490057.1:p.Ile136=
ENST00000637667.1:c.597C>A	ENSP00000489843.1:p.Ile199=
ENST00000637823.1:c.521C>A
ENST00000637888.1:c.198+10156C>A	ENSP00000490546.1:n.198+10156C>A
ENST00000638076.1:c.*299C>A	ENSP00000490373.1:n.*299C>A
ENST00000638144.1:n.339C>A
ENST00000646164.1:c.39-8699C>A
ENST00000249806.9:c.696C>A	ENSP00000249806.5:p.Ile232=
ENST00000538696.5:c.792C>A	ENSP00000445770.1:p.Ile264=
ENST00000562767.1:c.84-10752C>A	ENSP00000456336.1:n.84-10752C>A
ENST00000564752.1:c.*80C>A	ENSP00000457822.1:n.*80C>A
ENST00000565471.5:c.237C>A	ENSP00000457384.1:p.Ile79=
ENST00000566347.5:c.507C>A	ENSP00000457783.1:p.Ile169=
ENST00000567060.5:c.*94C>A	ENSP00000454818.1:n.*94C>A
NM_017882.2:c.696C>A	NP_060352.1:p.Ile232=
NM_017882.3:c.696C>A MANE Select	NP_060352.1:p.Ile232=