Canonical Allele Identifier: CA392971917

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500611A>T (hg19) ; chr15:g.68208273A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208273A>T , CM000677.2:g.68208273A>T	GRCh38
NC_000015.9:g.68500611A>T , CM000677.1:g.68500611A>T	GRCh37
NC_000015.8:g.66287665A>T	NCBI36
NG_008764.2:g.53939T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.803T>A MANE Select	ENSP00000249806.5:p.Leu268Gln
ENST00000562767.2:c.84-10645T>A	ENSP00000456336.1:n.84-10645T>A
ENST00000565471.6:c.344T>A	ENSP00000457384.1:p.Leu115Gln
ENST00000635747.1:c.*706T>A	ENSP00000490627.1:n.*706T>A
ENST00000636212.1:c.*473T>A	ENSP00000489851.1:n.*473T>A
ENST00000636674.1:n.1905T>A
ENST00000636964.1:n.2331T>A
ENST00000637054.1:c.198+10263T>A	ENSP00000490807.1:n.198+10263T>A
ENST00000637329.1:c.772T>A
ENST00000637450.1:c.*457T>A	ENSP00000490204.1:n.*457T>A
ENST00000637494.1:c.515T>A	ENSP00000490057.1:p.Leu172Gln
ENST00000637667.1:c.704T>A	ENSP00000489843.1:p.Leu235Gln
ENST00000637823.1:c.628T>A
ENST00000637888.1:c.198+10263T>A	ENSP00000490546.1:n.198+10263T>A
ENST00000638076.1:c.*406T>A	ENSP00000490373.1:n.*406T>A
ENST00000638144.1:n.446T>A
ENST00000646164.1:c.39-8592T>A
ENST00000249806.9:c.803T>A	ENSP00000249806.5:p.Leu268Gln
ENST00000538696.5:c.899T>A	ENSP00000445770.1:p.Leu300Gln
ENST00000562767.1:c.84-10645T>A	ENSP00000456336.1:n.84-10645T>A
ENST00000565471.5:c.344T>A	ENSP00000457384.1:p.Leu115Gln
ENST00000566347.5:c.614T>A	ENSP00000457783.1:p.Leu205Gln
ENST00000567060.5:c.*201T>A	ENSP00000454818.1:n.*201T>A
NM_017882.2:c.803T>A	NP_060352.1:p.Leu268Gln
NM_017882.3:c.803T>A MANE Select	NP_060352.1:p.Leu268Gln