Canonical Allele Identifier: CA392971858

Gene: CLN6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.823C>T MANE Select	ENSP00000249806.5:p.Leu275Phe
ENST00000562767.2:c.84-10625C>T	ENSP00000456336.1:n.84-10625C>T
ENST00000565471.6:c.364C>T	ENSP00000457384.1:p.Leu122Phe
ENST00000635747.1:c.*726C>T	ENSP00000490627.1:n.*726C>T
ENST00000636212.1:c.*493C>T	ENSP00000489851.1:n.*493C>T
ENST00000636674.1:n.1925C>T
ENST00000636964.1:n.2351C>T
ENST00000637054.1:c.198+10283C>T	ENSP00000490807.1:n.198+10283C>T
ENST00000637329.1:c.792C>T
ENST00000637450.1:c.*477C>T	ENSP00000490204.1:n.*477C>T
ENST00000637494.1:c.535C>T	ENSP00000490057.1:p.Leu179Phe
ENST00000637667.1:c.724C>T	ENSP00000489843.1:p.Leu242Phe
ENST00000637823.1:c.648C>T
ENST00000637888.1:c.198+10283C>T	ENSP00000490546.1:n.198+10283C>T
ENST00000638076.1:c.*426C>T	ENSP00000490373.1:n.*426C>T
ENST00000638144.1:n.466C>T
ENST00000646164.1:c.39-8572C>T
ENST00000249806.9:c.823C>T	ENSP00000249806.5:p.Leu275Phe
ENST00000538696.5:c.919C>T	ENSP00000445770.1:p.Leu307Phe
ENST00000562767.1:c.84-10625C>T	ENSP00000456336.1:n.84-10625C>T
ENST00000565471.5:c.364C>T	ENSP00000457384.1:p.Leu122Phe
ENST00000566347.5:c.634C>T	ENSP00000457783.1:p.Leu212Phe
ENST00000567060.5:c.*221C>T	ENSP00000454818.1:n.*221C>T
NM_017882.2:c.823C>T	NP_060352.1:p.Leu275Phe
NM_017882.3:c.823C>T MANE Select	NP_060352.1:p.Leu275Phe