Canonical Allele Identifier: CA392974331

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68506639G>A (hg19) ; chr15:g.68214301G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214301G>A , CM000677.2:g.68214301G>A	GRCh38
NC_000015.9:g.68506639G>A , CM000677.1:g.68506639G>A	GRCh37
NC_000015.8:g.66293693G>A	NCBI36
NG_008764.2:g.47911C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.286C>T MANE Select	ENSP00000249806.5:p.Leu96Phe
ENST00000562767.2:c.83+15201C>T	ENSP00000456336.1:n.83+15201C>T
ENST00000563917.2:n.128C>T
ENST00000565471.6:c.84-4542C>T	ENSP00000457384.1:n.84-4542C>T
ENST00000635747.1:c.*189C>T	ENSP00000490627.1:n.*189C>T
ENST00000635754.1:n.1308C>T
ENST00000636020.1:n.418C>T
ENST00000636212.1:c.286C>T	ENSP00000489851.1:p.Leu96Phe
ENST00000636314.1:c.171C>T	ENSP00000490295.1:p.Phe57=
ENST00000637054.1:c.198+4235C>T	ENSP00000490807.1:n.198+4235C>T
ENST00000637223.1:c.*189C>T	ENSP00000490010.1:n.*189C>T
ENST00000637329.1:c.197C>T
ENST00000637450.1:c.171C>T	ENSP00000490204.1:p.Phe57=
ENST00000637494.1:c.199-2983C>T	ENSP00000490057.1:n.199-2983C>T
ENST00000637667.1:c.199-2438C>T	ENSP00000489843.1:n.199-2438C>T
ENST00000637823.1:c.212C>T
ENST00000637888.1:c.198+4235C>T	ENSP00000490546.1:n.198+4235C>T
ENST00000638076.1:c.286C>T	ENSP00000490373.1:p.Leu96Phe
ENST00000638144.1:n.118C>T
ENST00000646164.1:c.38+4235C>T
ENST00000249806.9:c.286C>T	ENSP00000249806.5:p.Leu96Phe
ENST00000538696.5:c.382C>T	ENSP00000445770.1:p.Leu128Phe
ENST00000562767.1:c.83+15201C>T	ENSP00000456336.1:n.83+15201C>T
ENST00000563917.1:n.67C>T
ENST00000564752.1:c.286C>T	ENSP00000457822.1:p.Leu96Phe
ENST00000564846.1:n.718C>T
ENST00000565471.5:c.84-4542C>T	ENSP00000457384.1:n.84-4542C>T
ENST00000566347.5:c.286C>T	ENSP00000457783.1:p.Leu96Phe
ENST00000567060.5:c.286C>T	ENSP00000454818.1:p.Leu96Phe
NM_017882.2:c.286C>T	NP_060352.1:p.Leu96Phe
XR_931861.1:n.389C>T
NM_017882.3:c.286C>T MANE Select	NP_060352.1:p.Leu96Phe