Canonical Allele Identifier: CA490911589

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502007C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209669C>T , CM000677.2:g.68209669C>T	GRCh38
NC_000015.9:g.68502007C>T , CM000677.1:g.68502007C>T	GRCh37
NC_000015.8:g.66289061C>T	NCBI36
NG_008764.2:g.52543G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.633G>A MANE Select	ENSP00000249806.5:p.Leu211=
ENST00000562767.2:c.84-12041G>A	ENSP00000456336.1:n.84-12041G>A
ENST00000563917.2:n.475G>A
ENST00000565471.6:c.174G>A	ENSP00000457384.1:p.Leu58=
ENST00000635747.1:c.*536G>A	ENSP00000490627.1:n.*536G>A
ENST00000636212.1:c.*303G>A	ENSP00000489851.1:n.*303G>A
ENST00000636674.1:n.1735G>A
ENST00000636964.1:n.2161G>A
ENST00000637054.1:c.198+8867G>A	ENSP00000490807.1:n.198+8867G>A
ENST00000637329.1:c.602G>A
ENST00000637450.1:c.*287G>A	ENSP00000490204.1:n.*287G>A
ENST00000637494.1:c.345G>A	ENSP00000490057.1:p.Leu115=
ENST00000637667.1:c.534G>A	ENSP00000489843.1:p.Leu178=
ENST00000637823.1:c.458G>A
ENST00000637888.1:c.198+8867G>A	ENSP00000490546.1:n.198+8867G>A
ENST00000638076.1:c.*236G>A	ENSP00000490373.1:n.*236G>A
ENST00000638144.1:n.276G>A
ENST00000646164.1:c.38+8867G>A
ENST00000249806.9:c.633G>A	ENSP00000249806.5:p.Leu211=
ENST00000538696.5:c.729G>A	ENSP00000445770.1:p.Leu243=
ENST00000562767.1:c.84-12041G>A	ENSP00000456336.1:n.84-12041G>A
ENST00000563917.1:n.533G>A
ENST00000564752.1:c.*17G>A	ENSP00000457822.1:n.*17G>A
ENST00000565471.5:c.174G>A	ENSP00000457384.1:p.Leu58=
ENST00000566347.5:c.444G>A	ENSP00000457783.1:p.Leu148=
ENST00000567060.5:c.*31G>A	ENSP00000454818.1:n.*31G>A
NM_017882.2:c.633G>A	NP_060352.1:p.Leu211=
XR_931861.1:n.855G>A
NM_017882.3:c.633G>A MANE Select	NP_060352.1:p.Leu211=