Canonical Allele Identifier: CA491100073

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500715G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208377G>C , CM000677.2:g.68208377G>C	GRCh38
NC_000015.9:g.68500715G>C , CM000677.1:g.68500715G>C	GRCh37
NC_000015.8:g.66287769G>C	NCBI36
NG_008764.2:g.53835C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.699C>G MANE Select	ENSP00000249806.5:p.Leu233=
ENST00000562767.2:c.84-10749C>G	ENSP00000456336.1:n.84-10749C>G
ENST00000563917.2:n.541C>G
ENST00000565471.6:c.240C>G	ENSP00000457384.1:p.Leu80=
ENST00000635747.1:c.*602C>G	ENSP00000490627.1:n.*602C>G
ENST00000636212.1:c.*369C>G	ENSP00000489851.1:n.*369C>G
ENST00000636674.1:n.1801C>G
ENST00000636964.1:n.2227C>G
ENST00000637054.1:c.198+10159C>G	ENSP00000490807.1:n.198+10159C>G
ENST00000637329.1:c.668C>G
ENST00000637450.1:c.*353C>G	ENSP00000490204.1:n.*353C>G
ENST00000637494.1:c.411C>G	ENSP00000490057.1:p.Leu137=
ENST00000637667.1:c.600C>G	ENSP00000489843.1:p.Leu200=
ENST00000637823.1:c.524C>G
ENST00000637888.1:c.198+10159C>G	ENSP00000490546.1:n.198+10159C>G
ENST00000638076.1:c.*302C>G	ENSP00000490373.1:n.*302C>G
ENST00000638144.1:n.342C>G
ENST00000646164.1:c.39-8696C>G
ENST00000249806.9:c.699C>G	ENSP00000249806.5:p.Leu233=
ENST00000538696.5:c.795C>G	ENSP00000445770.1:p.Leu265=
ENST00000562767.1:c.84-10749C>G	ENSP00000456336.1:n.84-10749C>G
ENST00000564752.1:c.*83C>G	ENSP00000457822.1:n.*83C>G
ENST00000565471.5:c.240C>G	ENSP00000457384.1:p.Leu80=
ENST00000566347.5:c.510C>G	ENSP00000457783.1:p.Leu170=
ENST00000567060.5:c.*97C>G	ENSP00000454818.1:n.*97C>G
NM_017882.2:c.699C>G	NP_060352.1:p.Leu233=
NM_017882.3:c.699C>G MANE Select	NP_060352.1:p.Leu233=