Canonical Allele Identifier: CA392971840

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500586C>G (hg19) ; chr15:g.68208248C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208248C>G , CM000677.2:g.68208248C>G	GRCh38
NC_000015.9:g.68500586C>G , CM000677.1:g.68500586C>G	GRCh37
NC_000015.8:g.66287640C>G	NCBI36
NG_008764.2:g.53964G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.828G>C MANE Select	ENSP00000249806.5:p.Trp276Cys
ENST00000562767.2:c.84-10620G>C	ENSP00000456336.1:n.84-10620G>C
ENST00000565471.6:c.369G>C	ENSP00000457384.1:p.Trp123Cys
ENST00000635747.1:c.*731G>C	ENSP00000490627.1:n.*731G>C
ENST00000636212.1:c.*498G>C	ENSP00000489851.1:n.*498G>C
ENST00000636674.1:n.1930G>C
ENST00000636964.1:n.2356G>C
ENST00000637054.1:c.198+10288G>C	ENSP00000490807.1:n.198+10288G>C
ENST00000637329.1:c.797G>C
ENST00000637450.1:c.*482G>C	ENSP00000490204.1:n.*482G>C
ENST00000637494.1:c.540G>C	ENSP00000490057.1:p.Trp180Cys
ENST00000637667.1:c.729G>C	ENSP00000489843.1:p.Trp243Cys
ENST00000637823.1:c.653G>C
ENST00000637888.1:c.198+10288G>C	ENSP00000490546.1:n.198+10288G>C
ENST00000638076.1:c.*431G>C	ENSP00000490373.1:n.*431G>C
ENST00000638144.1:n.471G>C
ENST00000646164.1:c.39-8567G>C
ENST00000249806.9:c.828G>C	ENSP00000249806.5:p.Trp276Cys
ENST00000538696.5:c.924G>C	ENSP00000445770.1:p.Trp308Cys
ENST00000562767.1:c.84-10620G>C	ENSP00000456336.1:n.84-10620G>C
ENST00000565471.5:c.369G>C	ENSP00000457384.1:p.Trp123Cys
ENST00000566347.5:c.639G>C	ENSP00000457783.1:p.Trp213Cys
ENST00000567060.5:c.*226G>C	ENSP00000454818.1:n.*226G>C
NM_017882.2:c.828G>C	NP_060352.1:p.Trp276Cys
NM_017882.3:c.828G>C MANE Select	NP_060352.1:p.Trp276Cys