Canonical Allele Identifier: CA392973206

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211306C>G , CM000677.2:g.68211306C>G	GRCh38
NC_000015.9:g.68503644C>G , CM000677.1:g.68503644C>G	GRCh37
NC_000015.8:g.66290698C>G	NCBI36
NG_008764.2:g.50906G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.499G>C MANE Select	NP_060352.1:p.Glu167Gln
ENST00000249806.11:c.499G>C MANE Select	ENSP00000249806.5:p.Glu167Gln
NM_017882.2:c.499G>C	NP_060352.1:p.Glu167Gln
ENST00000249806.9:c.499G>C	ENSP00000249806.5:p.Glu167Gln
ENST00000538696.5:c.595G>C	ENSP00000445770.1:p.Glu199Gln
ENST00000562767.1:c.84-13678G>C	ENSP00000456336.1:n.84-13678G>C
ENST00000562767.2:c.84-13678G>C	ENSP00000456336.1:n.84-13678G>C
ENST00000563917.1:n.399G>C
ENST00000563917.2:n.341G>C
ENST00000564752.1:c.525G>C	ENSP00000457822.1:p.Leu175Phe
ENST00000565471.5:c.84-1547G>C	ENSP00000457384.1:n.84-1547G>C
ENST00000565471.6:c.84-1547G>C	ENSP00000457384.1:n.84-1547G>C
ENST00000566347.5:c.310G>C	ENSP00000457783.1:p.Glu104Gln
ENST00000567060.5:c.298-1586G>C	ENSP00000454818.1:n.298-1586G>C
ENST00000635747.1:c.*402G>C	ENSP00000490627.1:n.*402G>C
ENST00000636212.1:c.*169G>C	ENSP00000489851.1:n.*169G>C
ENST00000636314.1:c.195G>C	ENSP00000490295.1:p.Leu65Phe
ENST00000636674.1:n.1601G>C
ENST00000636964.1:n.2027G>C
ENST00000637054.1:c.198+7230G>C	ENSP00000490807.1:n.198+7230G>C
ENST00000637223.1:c.*213G>C	ENSP00000490010.1:n.*213G>C
ENST00000637329.1:c.468G>C
ENST00000637450.1:c.*153G>C	ENSP00000490204.1:n.*153G>C
ENST00000637494.1:c.211G>C	ENSP00000490057.1:p.Glu71Gln
ENST00000637667.1:c.400G>C	ENSP00000489843.1:p.Glu134Gln
ENST00000637823.1:c.324G>C
ENST00000637888.1:c.198+7230G>C	ENSP00000490546.1:n.198+7230G>C
ENST00000638076.1:c.*102G>C	ENSP00000490373.1:n.*102G>C
ENST00000638144.1:n.142G>C
ENST00000646164.1:c.38+7230G>C
XR_931861.1:n.721G>C