Canonical Allele Identifier: CA392972244

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500714A>C (hg19) ; chr15:g.68208376A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208376A>C , CM000677.2:g.68208376A>C	GRCh38
NC_000015.9:g.68500714A>C , CM000677.1:g.68500714A>C	GRCh37
NC_000015.8:g.66287768A>C	NCBI36
NG_008764.2:g.53836T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.700T>G MANE Select	ENSP00000249806.5:p.Phe234Val
ENST00000562767.2:c.84-10748T>G	ENSP00000456336.1:n.84-10748T>G
ENST00000563917.2:n.542T>G
ENST00000565471.6:c.241T>G	ENSP00000457384.1:p.Phe81Val
ENST00000635747.1:c.*603T>G	ENSP00000490627.1:n.*603T>G
ENST00000636212.1:c.*370T>G	ENSP00000489851.1:n.*370T>G
ENST00000636674.1:n.1802T>G
ENST00000636964.1:n.2228T>G
ENST00000637054.1:c.198+10160T>G	ENSP00000490807.1:n.198+10160T>G
ENST00000637329.1:c.669T>G
ENST00000637450.1:c.*354T>G	ENSP00000490204.1:n.*354T>G
ENST00000637494.1:c.412T>G	ENSP00000490057.1:p.Phe138Val
ENST00000637667.1:c.601T>G	ENSP00000489843.1:p.Phe201Val
ENST00000637823.1:c.525T>G
ENST00000637888.1:c.198+10160T>G	ENSP00000490546.1:n.198+10160T>G
ENST00000638076.1:c.*303T>G	ENSP00000490373.1:n.*303T>G
ENST00000638144.1:n.343T>G
ENST00000646164.1:c.39-8695T>G
ENST00000249806.9:c.700T>G	ENSP00000249806.5:p.Phe234Val
ENST00000538696.5:c.796T>G	ENSP00000445770.1:p.Phe266Val
ENST00000562767.1:c.84-10748T>G	ENSP00000456336.1:n.84-10748T>G
ENST00000564752.1:c.*84T>G	ENSP00000457822.1:n.*84T>G
ENST00000565471.5:c.241T>G	ENSP00000457384.1:p.Phe81Val
ENST00000566347.5:c.511T>G	ENSP00000457783.1:p.Phe171Val
ENST00000567060.5:c.*98T>G	ENSP00000454818.1:n.*98T>G
NM_017882.2:c.700T>G	NP_060352.1:p.Phe234Val
NM_017882.3:c.700T>G MANE Select	NP_060352.1:p.Phe234Val