Canonical Allele Identifier: CA392972909

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502038T>A (hg19) ; chr15:g.68209700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209700T>A , CM000677.2:g.68209700T>A	GRCh38
NC_000015.9:g.68502038T>A , CM000677.1:g.68502038T>A	GRCh37
NC_000015.8:g.66289092T>A	NCBI36
NG_008764.2:g.52512A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.602A>T MANE Select	ENSP00000249806.5:p.Lys201Ile
ENST00000562767.2:c.84-12072A>T	ENSP00000456336.1:n.84-12072A>T
ENST00000563917.2:n.444A>T
ENST00000565471.6:c.143A>T	ENSP00000457384.1:p.Lys48Ile
ENST00000635747.1:c.*505A>T	ENSP00000490627.1:n.*505A>T
ENST00000636212.1:c.*272A>T	ENSP00000489851.1:n.*272A>T
ENST00000636314.1:c.298A>T	ENSP00000490295.1:p.Lys100Ter
ENST00000636674.1:n.1704A>T
ENST00000636964.1:n.2130A>T
ENST00000637054.1:c.198+8836A>T	ENSP00000490807.1:n.198+8836A>T
ENST00000637329.1:c.571A>T
ENST00000637450.1:c.*256A>T	ENSP00000490204.1:n.*256A>T
ENST00000637494.1:c.314A>T	ENSP00000490057.1:p.Lys105Ile
ENST00000637667.1:c.503A>T	ENSP00000489843.1:p.Lys168Ile
ENST00000637823.1:c.427A>T
ENST00000637888.1:c.198+8836A>T	ENSP00000490546.1:n.198+8836A>T
ENST00000638076.1:c.*205A>T	ENSP00000490373.1:n.*205A>T
ENST00000638144.1:n.245A>T
ENST00000646164.1:c.38+8836A>T
ENST00000249806.9:c.602A>T	ENSP00000249806.5:p.Lys201Ile
ENST00000538696.5:c.698A>T	ENSP00000445770.1:p.Lys233Ile
ENST00000562767.1:c.84-12072A>T	ENSP00000456336.1:n.84-12072A>T
ENST00000563917.1:n.502A>T
ENST00000564752.1:c.628A>T	ENSP00000457822.1:p.Lys210Ter
ENST00000565471.5:c.143A>T	ENSP00000457384.1:p.Lys48Ile
ENST00000566347.5:c.413A>T	ENSP00000457783.1:p.Lys138Ile
ENST00000567060.5:c.318A>T	ENSP00000454818.1:p.Ter106Tyr
NM_017882.2:c.602A>T	NP_060352.1:p.Lys201Ile
XR_931861.1:n.824A>T
NM_017882.3:c.602A>T MANE Select	NP_060352.1:p.Lys201Ile