Canonical Allele Identifier: CA392972782

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501977G>T (hg19) ; chr15:g.68209639G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209639G>T , CM000677.2:g.68209639G>T	GRCh38
NC_000015.9:g.68501977G>T , CM000677.1:g.68501977G>T	GRCh37
NC_000015.8:g.66289031G>T	NCBI36
NG_008764.2:g.52573C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.663C>A MANE Select	ENSP00000249806.5:p.Tyr221Ter
ENST00000562767.2:c.84-12011C>A	ENSP00000456336.1:n.84-12011C>A
ENST00000563917.2:n.505C>A
ENST00000565471.6:c.204C>A	ENSP00000457384.1:p.Tyr68Ter
ENST00000635747.1:c.*566C>A	ENSP00000490627.1:n.*566C>A
ENST00000636212.1:c.*333C>A	ENSP00000489851.1:n.*333C>A
ENST00000636674.1:n.1765C>A
ENST00000636964.1:n.2191C>A
ENST00000637054.1:c.198+8897C>A	ENSP00000490807.1:n.198+8897C>A
ENST00000637329.1:c.632C>A
ENST00000637450.1:c.*317C>A	ENSP00000490204.1:n.*317C>A
ENST00000637494.1:c.375C>A	ENSP00000490057.1:p.Tyr125Ter
ENST00000637667.1:c.564C>A	ENSP00000489843.1:p.Tyr188Ter
ENST00000637823.1:c.488C>A
ENST00000637888.1:c.198+8897C>A	ENSP00000490546.1:n.198+8897C>A
ENST00000638076.1:c.*266C>A	ENSP00000490373.1:n.*266C>A
ENST00000638144.1:n.306C>A
ENST00000646164.1:c.38+8897C>A
ENST00000249806.9:c.663C>A	ENSP00000249806.5:p.Tyr221Ter
ENST00000538696.5:c.759C>A	ENSP00000445770.1:p.Tyr253Ter
ENST00000562767.1:c.84-12011C>A	ENSP00000456336.1:n.84-12011C>A
ENST00000563917.1:n.563C>A
ENST00000564752.1:c.*47C>A	ENSP00000457822.1:n.*47C>A
ENST00000565471.5:c.204C>A	ENSP00000457384.1:p.Tyr68Ter
ENST00000566347.5:c.474C>A	ENSP00000457783.1:p.Tyr158Ter
ENST00000567060.5:c.*61C>A	ENSP00000454818.1:n.*61C>A
NM_017882.2:c.663C>A	NP_060352.1:p.Tyr221Ter
XR_931861.1:n.885C>A
NM_017882.3:c.663C>A MANE Select	NP_060352.1:p.Tyr221Ter