Canonical Allele Identifier: CA392973325

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504026T>A (hg19) ; chr15:g.68211688T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211688T>A , CM000677.2:g.68211688T>A	GRCh38
NC_000015.9:g.68504026T>A , CM000677.1:g.68504026T>A	GRCh37
NC_000015.8:g.66291080T>A	NCBI36
NG_008764.2:g.50524A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.473A>T MANE Select	ENSP00000249806.5:p.Lys158Met
ENST00000562767.2:c.84-14060A>T	ENSP00000456336.1:n.84-14060A>T
ENST00000563917.2:n.315A>T
ENST00000565471.6:c.84-1929A>T	ENSP00000457384.1:n.84-1929A>T
ENST00000635747.1:c.*376A>T	ENSP00000490627.1:n.*376A>T
ENST00000636212.1:c.*24A>T	ENSP00000489851.1:n.*24A>T
ENST00000636314.1:c.183-370A>T	ENSP00000490295.1:n.183-370A>T
ENST00000636674.1:n.1456A>T
ENST00000636964.1:n.1645A>T
ENST00000637054.1:c.198+6848A>T	ENSP00000490807.1:n.198+6848A>T
ENST00000637223.1:c.*201-370A>T	ENSP00000490010.1:n.*201-370A>T
ENST00000637329.1:c.442A>T
ENST00000637450.1:c.*127A>T	ENSP00000490204.1:n.*127A>T
ENST00000637494.1:c.199-370A>T	ENSP00000490057.1:n.199-370A>T
ENST00000637667.1:c.374A>T	ENSP00000489843.1:p.Lys125Met
ENST00000637823.1:c.224-45A>T
ENST00000637888.1:c.198+6848A>T	ENSP00000490546.1:n.198+6848A>T
ENST00000638076.1:c.473A>T	ENSP00000490373.1:p.Lys158Met
ENST00000638144.1:n.130-370A>T
ENST00000646164.1:c.38+6848A>T
ENST00000249806.9:c.473A>T	ENSP00000249806.5:p.Lys158Met
ENST00000538696.5:c.569A>T	ENSP00000445770.1:p.Lys190Met
ENST00000562767.1:c.84-14060A>T	ENSP00000456336.1:n.84-14060A>T
ENST00000563917.1:n.254A>T
ENST00000564752.1:c.473A>T	ENSP00000457822.1:p.Lys158Met
ENST00000565471.5:c.84-1929A>T	ENSP00000457384.1:n.84-1929A>T
ENST00000566347.5:c.298-370A>T	ENSP00000457783.1:n.298-370A>T
ENST00000567060.5:c.298-1968A>T	ENSP00000454818.1:n.298-1968A>T
NM_017882.2:c.473A>T	NP_060352.1:p.Lys158Met
XR_931861.1:n.576A>T
NM_017882.3:c.473A>T MANE Select	NP_060352.1:p.Lys158Met