Canonical Allele Identifier: CA392973500

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504105A>G (hg19) ; chr15:g.68211767A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211767A>G , CM000677.2:g.68211767A>G	GRCh38
NC_000015.9:g.68504105A>G , CM000677.1:g.68504105A>G	GRCh37
NC_000015.8:g.66291159A>G	NCBI36
NG_008764.2:g.50445T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.394T>C MANE Select	ENSP00000249806.5:p.Ser132Pro
ENST00000562767.2:c.84-14139T>C	ENSP00000456336.1:n.84-14139T>C
ENST00000563917.2:n.236T>C
ENST00000565471.6:c.84-2008T>C	ENSP00000457384.1:n.84-2008T>C
ENST00000635747.1:c.*297T>C	ENSP00000490627.1:n.*297T>C
ENST00000636212.1:c.298-26T>C	ENSP00000489851.1:n.298-26T>C
ENST00000636314.1:c.183-449T>C	ENSP00000490295.1:n.183-449T>C
ENST00000636674.1:n.1377T>C
ENST00000636964.1:n.1566T>C
ENST00000637054.1:c.198+6769T>C	ENSP00000490807.1:n.198+6769T>C
ENST00000637223.1:c.*201-449T>C	ENSP00000490010.1:n.*201-449T>C
ENST00000637329.1:c.363T>C
ENST00000637450.1:c.*48T>C	ENSP00000490204.1:n.*48T>C
ENST00000637494.1:c.199-449T>C	ENSP00000490057.1:n.199-449T>C
ENST00000637667.1:c.295T>C	ENSP00000489843.1:p.Ser99Pro
ENST00000637823.1:c.224-124T>C
ENST00000637888.1:c.198+6769T>C	ENSP00000490546.1:n.198+6769T>C
ENST00000638076.1:c.394T>C	ENSP00000490373.1:p.Ser132Pro
ENST00000638144.1:n.130-449T>C
ENST00000646164.1:c.38+6769T>C
ENST00000249806.9:c.394T>C	ENSP00000249806.5:p.Ser132Pro
ENST00000538696.5:c.490T>C	ENSP00000445770.1:p.Ser164Pro
ENST00000562767.1:c.84-14139T>C	ENSP00000456336.1:n.84-14139T>C
ENST00000563917.1:n.175T>C
ENST00000564752.1:c.394T>C	ENSP00000457822.1:p.Ser132Pro
ENST00000565471.5:c.84-2008T>C	ENSP00000457384.1:n.84-2008T>C
ENST00000566347.5:c.298-449T>C	ENSP00000457783.1:n.298-449T>C
ENST00000567060.5:c.298-2047T>C	ENSP00000454818.1:n.298-2047T>C
NM_017882.2:c.394T>C	NP_060352.1:p.Ser132Pro
XR_931861.1:n.497T>C
NM_017882.3:c.394T>C MANE Select	NP_060352.1:p.Ser132Pro