Canonical Allele Identifier: CA392971967

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208298-G-A
• MyVariant Identifiers: chr15:g.68500636G>A (hg19) ; chr15:g.68208298G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208298G>A , CM000677.2:g.68208298G>A	GRCh38
NC_000015.9:g.68500636G>A , CM000677.1:g.68500636G>A	GRCh37
NC_000015.8:g.66287690G>A	NCBI36
NG_008764.2:g.53914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.778C>T MANE Select	ENSP00000249806.5:p.Leu260Phe
ENST00000562767.2:c.84-10670C>T	ENSP00000456336.1:n.84-10670C>T
ENST00000565471.6:c.319C>T	ENSP00000457384.1:p.Leu107Phe
ENST00000635747.1:c.*681C>T	ENSP00000490627.1:n.*681C>T
ENST00000636212.1:c.*448C>T	ENSP00000489851.1:n.*448C>T
ENST00000636674.1:n.1880C>T
ENST00000636964.1:n.2306C>T
ENST00000637054.1:c.198+10238C>T	ENSP00000490807.1:n.198+10238C>T
ENST00000637329.1:c.747C>T
ENST00000637450.1:c.*432C>T	ENSP00000490204.1:n.*432C>T
ENST00000637494.1:c.490C>T	ENSP00000490057.1:p.Leu164Phe
ENST00000637667.1:c.679C>T	ENSP00000489843.1:p.Leu227Phe
ENST00000637823.1:c.603C>T
ENST00000637888.1:c.198+10238C>T	ENSP00000490546.1:n.198+10238C>T
ENST00000638076.1:c.*381C>T	ENSP00000490373.1:n.*381C>T
ENST00000638144.1:n.421C>T
ENST00000646164.1:c.39-8617C>T
ENST00000249806.9:c.778C>T	ENSP00000249806.5:p.Leu260Phe
ENST00000538696.5:c.874C>T	ENSP00000445770.1:p.Leu292Phe
ENST00000562767.1:c.84-10670C>T	ENSP00000456336.1:n.84-10670C>T
ENST00000565471.5:c.319C>T	ENSP00000457384.1:p.Leu107Phe
ENST00000566347.5:c.589C>T	ENSP00000457783.1:p.Leu197Phe
ENST00000567060.5:c.*176C>T	ENSP00000454818.1:n.*176C>T
NM_017882.2:c.778C>T	NP_060352.1:p.Leu260Phe
NM_017882.3:c.778C>T MANE Select	NP_060352.1:p.Leu260Phe