Canonical Allele Identifier: CA491099800

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500535G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208197G>C , CM000677.2:g.68208197G>C	GRCh38
NC_000015.9:g.68500535G>C , CM000677.1:g.68500535G>C	GRCh37
NC_000015.8:g.66287589G>C	NCBI36
NG_008764.2:g.54015C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.879C>G MANE Select	ENSP00000249806.5:p.Val293=
ENST00000562767.2:c.84-10569C>G	ENSP00000456336.1:n.84-10569C>G
ENST00000565471.6:c.420C>G	ENSP00000457384.1:p.Val140=
ENST00000635747.1:c.*782C>G	ENSP00000490627.1:n.*782C>G
ENST00000636212.1:c.*549C>G	ENSP00000489851.1:n.*549C>G
ENST00000636674.1:n.1981C>G
ENST00000636964.1:n.2407C>G
ENST00000637054.1:c.198+10339C>G	ENSP00000490807.1:n.198+10339C>G
ENST00000637329.1:c.848C>G
ENST00000637450.1:c.*533C>G	ENSP00000490204.1:n.*533C>G
ENST00000637494.1:c.591C>G	ENSP00000490057.1:p.Val197=
ENST00000637823.1:c.704C>G
ENST00000637888.1:c.198+10339C>G	ENSP00000490546.1:n.198+10339C>G
ENST00000638076.1:c.*482C>G	ENSP00000490373.1:n.*482C>G
ENST00000638144.1:n.522C>G
ENST00000646164.1:c.39-8516C>G
ENST00000249806.9:c.879C>G	ENSP00000249806.5:p.Val293=
ENST00000538696.5:c.975C>G	ENSP00000445770.1:p.Val325=
ENST00000562767.1:c.84-10569C>G	ENSP00000456336.1:n.84-10569C>G
ENST00000565471.5:c.420C>G	ENSP00000457384.1:p.Val140=
ENST00000566347.5:c.690C>G	ENSP00000457783.1:p.Val230=
ENST00000567060.5:c.*277C>G	ENSP00000454818.1:n.*277C>G
NM_017882.2:c.879C>G	NP_060352.1:p.Val293=
NM_017882.3:c.879C>G MANE Select	NP_060352.1:p.Val293=