Canonical Allele Identifier: CA392972790

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501981T>C (hg19) ; chr15:g.68209643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209643T>C , CM000677.2:g.68209643T>C	GRCh38
NC_000015.9:g.68501981T>C , CM000677.1:g.68501981T>C	GRCh37
NC_000015.8:g.66289035T>C	NCBI36
NG_008764.2:g.52569A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.659A>G MANE Select	ENSP00000249806.5:p.Tyr220Cys
ENST00000562767.2:c.84-12015A>G	ENSP00000456336.1:n.84-12015A>G
ENST00000563917.2:n.501A>G
ENST00000565471.6:c.200A>G	ENSP00000457384.1:p.Tyr67Cys
ENST00000635747.1:c.*562A>G	ENSP00000490627.1:n.*562A>G
ENST00000636212.1:c.*329A>G	ENSP00000489851.1:n.*329A>G
ENST00000636674.1:n.1761A>G
ENST00000636964.1:n.2187A>G
ENST00000637054.1:c.198+8893A>G	ENSP00000490807.1:n.198+8893A>G
ENST00000637329.1:c.628A>G
ENST00000637450.1:c.*313A>G	ENSP00000490204.1:n.*313A>G
ENST00000637494.1:c.371A>G	ENSP00000490057.1:p.Tyr124Cys
ENST00000637667.1:c.560A>G	ENSP00000489843.1:p.Tyr187Cys
ENST00000637823.1:c.484A>G
ENST00000637888.1:c.198+8893A>G	ENSP00000490546.1:n.198+8893A>G
ENST00000638076.1:c.*262A>G	ENSP00000490373.1:n.*262A>G
ENST00000638144.1:n.302A>G
ENST00000646164.1:c.38+8893A>G
ENST00000249806.9:c.659A>G	ENSP00000249806.5:p.Tyr220Cys
ENST00000538696.5:c.755A>G	ENSP00000445770.1:p.Tyr252Cys
ENST00000562767.1:c.84-12015A>G	ENSP00000456336.1:n.84-12015A>G
ENST00000563917.1:n.559A>G
ENST00000564752.1:c.*43A>G	ENSP00000457822.1:n.*43A>G
ENST00000565471.5:c.200A>G	ENSP00000457384.1:p.Tyr67Cys
ENST00000566347.5:c.470A>G	ENSP00000457783.1:p.Tyr157Cys
ENST00000567060.5:c.*57A>G	ENSP00000454818.1:n.*57A>G
NM_017882.2:c.659A>G	NP_060352.1:p.Tyr220Cys
XR_931861.1:n.881A>G
NM_017882.3:c.659A>G MANE Select	NP_060352.1:p.Tyr220Cys