Canonical Allele Identifier: CA392972131

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500689A>T (hg19) ; chr15:g.68208351A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208351A>T , CM000677.2:g.68208351A>T	GRCh38
NC_000015.9:g.68500689A>T , CM000677.1:g.68500689A>T	GRCh37
NC_000015.8:g.66287743A>T	NCBI36
NG_008764.2:g.53861T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.725T>A MANE Select	ENSP00000249806.5:p.Leu242Gln
ENST00000562767.2:c.84-10723T>A	ENSP00000456336.1:n.84-10723T>A
ENST00000565471.6:c.266T>A	ENSP00000457384.1:p.Leu89Gln
ENST00000635747.1:c.*628T>A	ENSP00000490627.1:n.*628T>A
ENST00000636212.1:c.*395T>A	ENSP00000489851.1:n.*395T>A
ENST00000636674.1:n.1827T>A
ENST00000636964.1:n.2253T>A
ENST00000637054.1:c.198+10185T>A	ENSP00000490807.1:n.198+10185T>A
ENST00000637329.1:c.694T>A
ENST00000637450.1:c.*379T>A	ENSP00000490204.1:n.*379T>A
ENST00000637494.1:c.437T>A	ENSP00000490057.1:p.Leu146Gln
ENST00000637667.1:c.626T>A	ENSP00000489843.1:p.Leu209Gln
ENST00000637823.1:c.550T>A
ENST00000637888.1:c.198+10185T>A	ENSP00000490546.1:n.198+10185T>A
ENST00000638076.1:c.*328T>A	ENSP00000490373.1:n.*328T>A
ENST00000638144.1:n.368T>A
ENST00000646164.1:c.39-8670T>A
ENST00000249806.9:c.725T>A	ENSP00000249806.5:p.Leu242Gln
ENST00000538696.5:c.821T>A	ENSP00000445770.1:p.Leu274Gln
ENST00000562767.1:c.84-10723T>A	ENSP00000456336.1:n.84-10723T>A
ENST00000564752.1:c.*109T>A	ENSP00000457822.1:n.*109T>A
ENST00000565471.5:c.266T>A	ENSP00000457384.1:p.Leu89Gln
ENST00000566347.5:c.536T>A	ENSP00000457783.1:p.Leu179Gln
ENST00000567060.5:c.*123T>A	ENSP00000454818.1:n.*123T>A
NM_017882.2:c.725T>A	NP_060352.1:p.Leu242Gln
NM_017882.3:c.725T>A MANE Select	NP_060352.1:p.Leu242Gln