Canonical Allele Identifier: CA392971860

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500591G>T (hg19) ; chr15:g.68208253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208253G>T , CM000677.2:g.68208253G>T	GRCh38
NC_000015.9:g.68500591G>T , CM000677.1:g.68500591G>T	GRCh37
NC_000015.8:g.66287645G>T	NCBI36
NG_008764.2:g.53959C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.823C>A MANE Select	ENSP00000249806.5:p.Leu275Ile
ENST00000562767.2:c.84-10625C>A	ENSP00000456336.1:n.84-10625C>A
ENST00000565471.6:c.364C>A	ENSP00000457384.1:p.Leu122Ile
ENST00000635747.1:c.*726C>A	ENSP00000490627.1:n.*726C>A
ENST00000636212.1:c.*493C>A	ENSP00000489851.1:n.*493C>A
ENST00000636674.1:n.1925C>A
ENST00000636964.1:n.2351C>A
ENST00000637054.1:c.198+10283C>A	ENSP00000490807.1:n.198+10283C>A
ENST00000637329.1:c.792C>A
ENST00000637450.1:c.*477C>A	ENSP00000490204.1:n.*477C>A
ENST00000637494.1:c.535C>A	ENSP00000490057.1:p.Leu179Ile
ENST00000637667.1:c.724C>A	ENSP00000489843.1:p.Leu242Ile
ENST00000637823.1:c.648C>A
ENST00000637888.1:c.198+10283C>A	ENSP00000490546.1:n.198+10283C>A
ENST00000638076.1:c.*426C>A	ENSP00000490373.1:n.*426C>A
ENST00000638144.1:n.466C>A
ENST00000646164.1:c.39-8572C>A
ENST00000249806.9:c.823C>A	ENSP00000249806.5:p.Leu275Ile
ENST00000538696.5:c.919C>A	ENSP00000445770.1:p.Leu307Ile
ENST00000562767.1:c.84-10625C>A	ENSP00000456336.1:n.84-10625C>A
ENST00000565471.5:c.364C>A	ENSP00000457384.1:p.Leu122Ile
ENST00000566347.5:c.634C>A	ENSP00000457783.1:p.Leu212Ile
ENST00000567060.5:c.*221C>A	ENSP00000454818.1:n.*221C>A
NM_017882.2:c.823C>A	NP_060352.1:p.Leu275Ile
NM_017882.3:c.823C>A MANE Select	NP_060352.1:p.Leu275Ile