Canonical Allele Identifier: CA491099938

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500607G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208269G>C , CM000677.2:g.68208269G>C	GRCh38
NC_000015.9:g.68500607G>C , CM000677.1:g.68500607G>C	GRCh37
NC_000015.8:g.66287661G>C	NCBI36
NG_008764.2:g.53943C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.807C>G MANE Select	ENSP00000249806.5:p.Thr269=
ENST00000562767.2:c.84-10641C>G	ENSP00000456336.1:n.84-10641C>G
ENST00000565471.6:c.348C>G	ENSP00000457384.1:p.Thr116=
ENST00000635747.1:c.*710C>G	ENSP00000490627.1:n.*710C>G
ENST00000636212.1:c.*477C>G	ENSP00000489851.1:n.*477C>G
ENST00000636674.1:n.1909C>G
ENST00000636964.1:n.2335C>G
ENST00000637054.1:c.198+10267C>G	ENSP00000490807.1:n.198+10267C>G
ENST00000637329.1:c.776C>G
ENST00000637450.1:c.*461C>G	ENSP00000490204.1:n.*461C>G
ENST00000637494.1:c.519C>G	ENSP00000490057.1:p.Thr173=
ENST00000637667.1:c.708C>G	ENSP00000489843.1:p.Thr236=
ENST00000637823.1:c.632C>G
ENST00000637888.1:c.198+10267C>G	ENSP00000490546.1:n.198+10267C>G
ENST00000638076.1:c.*410C>G	ENSP00000490373.1:n.*410C>G
ENST00000638144.1:n.450C>G
ENST00000646164.1:c.39-8588C>G
ENST00000249806.9:c.807C>G	ENSP00000249806.5:p.Thr269=
ENST00000538696.5:c.903C>G	ENSP00000445770.1:p.Thr301=
ENST00000562767.1:c.84-10641C>G	ENSP00000456336.1:n.84-10641C>G
ENST00000565471.5:c.348C>G	ENSP00000457384.1:p.Thr116=
ENST00000566347.5:c.618C>G	ENSP00000457783.1:p.Thr206=
ENST00000567060.5:c.*205C>G	ENSP00000454818.1:n.*205C>G
NM_017882.2:c.807C>G	NP_060352.1:p.Thr269=
NM_017882.3:c.807C>G MANE Select	NP_060352.1:p.Thr269=