Canonical Allele Identifier: CA2184878301

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208388T= , CM000677.2:g.68208388T=	GRCh38
NC_000015.9:g.68500726T= , CM000677.1:g.68500726T=	GRCh37
NC_000015.8:g.66287780T=	NCBI36
NG_008764.2:g.53824A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.688A= MANE Select	ENSP00000249806.5:p.Ile230=
ENST00000562767.2:c.84-10760A=	ENSP00000456336.1:n.84-10760A=
ENST00000563917.2:n.530A=
ENST00000565471.6:c.229A=	ENSP00000457384.1:p.Ile77=
ENST00000635747.1:c.*591A=	ENSP00000490627.1:n.*591A=
ENST00000636212.1:c.*358A=	ENSP00000489851.1:n.*358A=
ENST00000636674.1:n.1790A=
ENST00000636964.1:n.2216A=
ENST00000637054.1:c.198+10148A=	ENSP00000490807.1:n.198+10148A=
ENST00000637329.1:c.657A=
ENST00000637450.1:c.*342A=	ENSP00000490204.1:n.*342A=
ENST00000637494.1:c.400A=	ENSP00000490057.1:p.Ile134=
ENST00000637667.1:c.589A=	ENSP00000489843.1:p.Ile197=
ENST00000637823.1:c.513A=
ENST00000637888.1:c.198+10148A=	ENSP00000490546.1:n.198+10148A=
ENST00000638076.1:c.*291A=	ENSP00000490373.1:n.*291A=
ENST00000638144.1:n.331A=
ENST00000646164.1:c.39-8707A=
ENST00000249806.9:c.688A=	ENSP00000249806.5:p.Ile230=
ENST00000538696.5:c.784A=	ENSP00000445770.1:p.Ile262=
ENST00000562767.1:c.84-10760A=	ENSP00000456336.1:n.84-10760A=
ENST00000564752.1:c.*72A=	ENSP00000457822.1:n.*72A=
ENST00000565471.5:c.229A=	ENSP00000457384.1:p.Ile77=
ENST00000566347.5:c.499A=	ENSP00000457783.1:p.Ile167=
ENST00000567060.5:c.*86A=	ENSP00000454818.1:n.*86A=
NM_017882.2:c.688A=	NP_060352.1:p.Ile230=
NM_017882.3:c.688A= MANE Select	NP_060352.1:p.Ile230=