Canonical Allele Identifier: CA392972304

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500726T>C (hg19) ; chr15:g.68208388T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.688A>G MANE Select	ENSP00000249806.5:p.Ile230Val
ENST00000562767.2:c.84-10760A>G	ENSP00000456336.1:n.84-10760A>G
ENST00000563917.2:n.530A>G
ENST00000565471.6:c.229A>G	ENSP00000457384.1:p.Ile77Val
ENST00000635747.1:c.*591A>G	ENSP00000490627.1:n.*591A>G
ENST00000636212.1:c.*358A>G	ENSP00000489851.1:n.*358A>G
ENST00000636674.1:n.1790A>G
ENST00000636964.1:n.2216A>G
ENST00000637054.1:c.198+10148A>G	ENSP00000490807.1:n.198+10148A>G
ENST00000637329.1:c.657A>G
ENST00000637450.1:c.*342A>G	ENSP00000490204.1:n.*342A>G
ENST00000637494.1:c.400A>G	ENSP00000490057.1:p.Ile134Val
ENST00000637667.1:c.589A>G	ENSP00000489843.1:p.Ile197Val
ENST00000637823.1:c.513A>G
ENST00000637888.1:c.198+10148A>G	ENSP00000490546.1:n.198+10148A>G
ENST00000638076.1:c.*291A>G	ENSP00000490373.1:n.*291A>G
ENST00000638144.1:n.331A>G
ENST00000646164.1:c.39-8707A>G
ENST00000249806.9:c.688A>G	ENSP00000249806.5:p.Ile230Val
ENST00000538696.5:c.784A>G	ENSP00000445770.1:p.Ile262Val
ENST00000562767.1:c.84-10760A>G	ENSP00000456336.1:n.84-10760A>G
ENST00000564752.1:c.*72A>G	ENSP00000457822.1:n.*72A>G
ENST00000565471.5:c.229A>G	ENSP00000457384.1:p.Ile77Val
ENST00000566347.5:c.499A>G	ENSP00000457783.1:p.Ile167Val
ENST00000567060.5:c.*86A>G	ENSP00000454818.1:n.*86A>G
NM_017882.2:c.688A>G	NP_060352.1:p.Ile230Val
NM_017882.3:c.688A>G MANE Select	NP_060352.1:p.Ile230Val