Canonical Allele Identifier: CA392973669

Gene: CLN6

Linked Data

• COSMIC: COSM6077863
• MyVariant Identifiers: chr15:g.68504182C>A (hg19) ; chr15:g.68211844C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211844C>A , CM000677.2:g.68211844C>A	GRCh38
NC_000015.9:g.68504182C>A , CM000677.1:g.68504182C>A	GRCh37
NC_000015.8:g.66291236C>A	NCBI36
NG_008764.2:g.50368G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.317G>T MANE Select	ENSP00000249806.5:p.Arg106Leu
ENST00000562767.2:c.84-14216G>T	ENSP00000456336.1:n.84-14216G>T
ENST00000563917.2:n.159G>T
ENST00000565471.6:c.84-2085G>T	ENSP00000457384.1:n.84-2085G>T
ENST00000635747.1:c.*220G>T	ENSP00000490627.1:n.*220G>T
ENST00000636212.1:c.298-103G>T	ENSP00000489851.1:n.298-103G>T
ENST00000636314.1:c.183-526G>T	ENSP00000490295.1:n.183-526G>T
ENST00000636674.1:n.1300G>T
ENST00000636964.1:n.1489G>T
ENST00000637054.1:c.198+6692G>T	ENSP00000490807.1:n.198+6692G>T
ENST00000637223.1:c.*201-526G>T	ENSP00000490010.1:n.*201-526G>T
ENST00000637329.1:c.286G>T
ENST00000637450.1:c.202G>T	ENSP00000490204.1:p.Ala68Ser
ENST00000637494.1:c.199-526G>T	ENSP00000490057.1:n.199-526G>T
ENST00000637667.1:c.218G>T	ENSP00000489843.1:p.Arg73Leu
ENST00000637823.1:c.224-201G>T
ENST00000637888.1:c.198+6692G>T	ENSP00000490546.1:n.198+6692G>T
ENST00000638076.1:c.317G>T	ENSP00000490373.1:p.Arg106Leu
ENST00000638144.1:n.130-526G>T
ENST00000646164.1:c.38+6692G>T
ENST00000249806.9:c.317G>T	ENSP00000249806.5:p.Arg106Leu
ENST00000538696.5:c.413G>T	ENSP00000445770.1:p.Arg138Leu
ENST00000562767.1:c.84-14216G>T	ENSP00000456336.1:n.84-14216G>T
ENST00000563917.1:n.98G>T
ENST00000564752.1:c.317G>T	ENSP00000457822.1:p.Arg106Leu
ENST00000565471.5:c.84-2085G>T	ENSP00000457384.1:n.84-2085G>T
ENST00000566347.5:c.298-526G>T	ENSP00000457783.1:n.298-526G>T
ENST00000567060.5:c.298-2124G>T	ENSP00000454818.1:n.298-2124G>T
NM_017882.2:c.317G>T	NP_060352.1:p.Arg106Leu
XR_931861.1:n.420G>T
NM_017882.3:c.317G>T MANE Select	NP_060352.1:p.Arg106Leu