Canonical Allele Identifier: CA490911547

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501983C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209645C>A , CM000677.2:g.68209645C>A	GRCh38
NC_000015.9:g.68501983C>A , CM000677.1:g.68501983C>A	GRCh37
NC_000015.8:g.66289037C>A	NCBI36
NG_008764.2:g.52567G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.657G>T MANE Select	ENSP00000249806.5:p.Leu219=
ENST00000562767.2:c.84-12017G>T	ENSP00000456336.1:n.84-12017G>T
ENST00000563917.2:n.499G>T
ENST00000565471.6:c.198G>T	ENSP00000457384.1:p.Leu66=
ENST00000635747.1:c.*560G>T	ENSP00000490627.1:n.*560G>T
ENST00000636212.1:c.*327G>T	ENSP00000489851.1:n.*327G>T
ENST00000636674.1:n.1759G>T
ENST00000636964.1:n.2185G>T
ENST00000637054.1:c.198+8891G>T	ENSP00000490807.1:n.198+8891G>T
ENST00000637329.1:c.626G>T
ENST00000637450.1:c.*311G>T	ENSP00000490204.1:n.*311G>T
ENST00000637494.1:c.369G>T	ENSP00000490057.1:p.Leu123=
ENST00000637667.1:c.558G>T	ENSP00000489843.1:p.Leu186=
ENST00000637823.1:c.482G>T
ENST00000637888.1:c.198+8891G>T	ENSP00000490546.1:n.198+8891G>T
ENST00000638076.1:c.*260G>T	ENSP00000490373.1:n.*260G>T
ENST00000638144.1:n.300G>T
ENST00000646164.1:c.38+8891G>T
ENST00000249806.9:c.657G>T	ENSP00000249806.5:p.Leu219=
ENST00000538696.5:c.753G>T	ENSP00000445770.1:p.Leu251=
ENST00000562767.1:c.84-12017G>T	ENSP00000456336.1:n.84-12017G>T
ENST00000563917.1:n.557G>T
ENST00000564752.1:c.*41G>T	ENSP00000457822.1:n.*41G>T
ENST00000565471.5:c.198G>T	ENSP00000457384.1:p.Leu66=
ENST00000566347.5:c.468G>T	ENSP00000457783.1:p.Leu156=
ENST00000567060.5:c.*55G>T	ENSP00000454818.1:n.*55G>T
NM_017882.2:c.657G>T	NP_060352.1:p.Leu219=
XR_931861.1:n.879G>T
NM_017882.3:c.657G>T MANE Select	NP_060352.1:p.Leu219=