Canonical Allele Identifier: CA491100024

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500676C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208338C>A , CM000677.2:g.68208338C>A	GRCh38
NC_000015.9:g.68500676C>A , CM000677.1:g.68500676C>A	GRCh37
NC_000015.8:g.66287730C>A	NCBI36
NG_008764.2:g.53874G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.738G>T MANE Select	ENSP00000249806.5:p.Leu246=
ENST00000562767.2:c.84-10710G>T	ENSP00000456336.1:n.84-10710G>T
ENST00000565471.6:c.279G>T	ENSP00000457384.1:p.Leu93=
ENST00000635747.1:c.*641G>T	ENSP00000490627.1:n.*641G>T
ENST00000636212.1:c.*408G>T	ENSP00000489851.1:n.*408G>T
ENST00000636674.1:n.1840G>T
ENST00000636964.1:n.2266G>T
ENST00000637054.1:c.198+10198G>T	ENSP00000490807.1:n.198+10198G>T
ENST00000637329.1:c.707G>T
ENST00000637450.1:c.*392G>T	ENSP00000490204.1:n.*392G>T
ENST00000637494.1:c.450G>T	ENSP00000490057.1:p.Leu150=
ENST00000637667.1:c.639G>T	ENSP00000489843.1:p.Leu213=
ENST00000637823.1:c.563G>T
ENST00000637888.1:c.198+10198G>T	ENSP00000490546.1:n.198+10198G>T
ENST00000638076.1:c.*341G>T	ENSP00000490373.1:n.*341G>T
ENST00000638144.1:n.381G>T
ENST00000646164.1:c.39-8657G>T
ENST00000249806.9:c.738G>T	ENSP00000249806.5:p.Leu246=
ENST00000538696.5:c.834G>T	ENSP00000445770.1:p.Leu278=
ENST00000562767.1:c.84-10710G>T	ENSP00000456336.1:n.84-10710G>T
ENST00000564752.1:c.*122G>T	ENSP00000457822.1:n.*122G>T
ENST00000565471.5:c.279G>T	ENSP00000457384.1:p.Leu93=
ENST00000566347.5:c.549G>T	ENSP00000457783.1:p.Leu183=
ENST00000567060.5:c.*136G>T	ENSP00000454818.1:n.*136G>T
NM_017882.2:c.738G>T	NP_060352.1:p.Leu246=
NM_017882.3:c.738G>T MANE Select	NP_060352.1:p.Leu246=