Canonical Allele Identifier: CA392973133

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68503618G>C (hg19) ; chr15:g.68211280G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211280G>C , CM000677.2:g.68211280G>C	GRCh38
NC_000015.9:g.68503618G>C , CM000677.1:g.68503618G>C	GRCh37
NC_000015.8:g.66290672G>C	NCBI36
NG_008764.2:g.50932C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.525C>G MANE Select	ENSP00000249806.5:p.Tyr175Ter
ENST00000562767.2:c.84-13652C>G	ENSP00000456336.1:n.84-13652C>G
ENST00000563917.2:n.367C>G
ENST00000565471.6:c.84-1521C>G	ENSP00000457384.1:n.84-1521C>G
ENST00000635747.1:c.*428C>G	ENSP00000490627.1:n.*428C>G
ENST00000636212.1:c.*195C>G	ENSP00000489851.1:n.*195C>G
ENST00000636314.1:c.221C>G	ENSP00000490295.1:p.Thr74Ser
ENST00000636674.1:n.1627C>G
ENST00000636964.1:n.2053C>G
ENST00000637054.1:c.198+7256C>G	ENSP00000490807.1:n.198+7256C>G
ENST00000637223.1:c.*239C>G	ENSP00000490010.1:n.*239C>G
ENST00000637329.1:c.494C>G
ENST00000637450.1:c.*179C>G	ENSP00000490204.1:n.*179C>G
ENST00000637494.1:c.237C>G	ENSP00000490057.1:p.Tyr79Ter
ENST00000637667.1:c.426C>G	ENSP00000489843.1:p.Tyr142Ter
ENST00000637823.1:c.350C>G
ENST00000637888.1:c.198+7256C>G	ENSP00000490546.1:n.198+7256C>G
ENST00000638076.1:c.*128C>G	ENSP00000490373.1:n.*128C>G
ENST00000638144.1:n.168C>G
ENST00000646164.1:c.38+7256C>G
ENST00000249806.9:c.525C>G	ENSP00000249806.5:p.Tyr175Ter
ENST00000538696.5:c.621C>G	ENSP00000445770.1:p.Tyr207Ter
ENST00000562767.1:c.84-13652C>G	ENSP00000456336.1:n.84-13652C>G
ENST00000563917.1:n.425C>G
ENST00000564752.1:c.551C>G	ENSP00000457822.1:p.Thr184Ser
ENST00000565471.5:c.84-1521C>G	ENSP00000457384.1:n.84-1521C>G
ENST00000566347.5:c.336C>G	ENSP00000457783.1:p.Tyr112Ter
ENST00000567060.5:c.298-1560C>G	ENSP00000454818.1:n.298-1560C>G
NM_017882.2:c.525C>G	NP_060352.1:p.Tyr175Ter
XR_931861.1:n.747C>G
NM_017882.3:c.525C>G MANE Select	NP_060352.1:p.Tyr175Ter