Canonical Allele Identifier: CA392973080

Gene: CLN6

Linked Data

• ClinVar Variation Id: 553963
• ClinVar RCV Id: RCV000669509
• dbSNP Id: rs1555438614
• MyVariant Identifiers: chr15:g.68503600C>A (hg19) ; chr15:g.68211262C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211262C>A , CM000677.2:g.68211262C>A	GRCh38
NC_000015.9:g.68503600C>A , CM000677.1:g.68503600C>A	GRCh37
NC_000015.8:g.66290654C>A	NCBI36
NG_008764.2:g.50950G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.542+1G>T MANE Select	ENSP00000249806.5:n.542+1G>T
ENST00000562767.2:c.84-13634G>T	ENSP00000456336.1:n.84-13634G>T
ENST00000563917.2:n.384+1G>T
ENST00000565471.6:c.84-1503G>T	ENSP00000457384.1:n.84-1503G>T
ENST00000635747.1:c.*445+1G>T	ENSP00000490627.1:n.*445+1G>T
ENST00000636212.1:c.*212+1G>T	ENSP00000489851.1:n.*212+1G>T
ENST00000636314.1:c.238+1G>T	ENSP00000490295.1:n.238+1G>T
ENST00000636674.1:n.1644+1G>T
ENST00000636964.1:n.2070+1G>T
ENST00000637054.1:c.198+7274G>T	ENSP00000490807.1:n.198+7274G>T
ENST00000637223.1:c.*256+1G>T	ENSP00000490010.1:n.*256+1G>T
ENST00000637329.1:c.511+1G>T
ENST00000637450.1:c.*196+1G>T	ENSP00000490204.1:n.*196+1G>T
ENST00000637494.1:c.254+1G>T	ENSP00000490057.1:n.254+1G>T
ENST00000637667.1:c.443+1G>T	ENSP00000489843.1:n.443+1G>T
ENST00000637823.1:c.367+1G>T
ENST00000637888.1:c.198+7274G>T	ENSP00000490546.1:n.198+7274G>T
ENST00000638076.1:c.*145+1G>T	ENSP00000490373.1:n.*145+1G>T
ENST00000638144.1:n.185+1G>T
ENST00000646164.1:c.38+7274G>T
ENST00000249806.9:c.542+1G>T	ENSP00000249806.5:n.542+1G>T
ENST00000538696.5:c.638+1G>T	ENSP00000445770.1:n.638+1G>T
ENST00000562767.1:c.84-13634G>T	ENSP00000456336.1:n.84-13634G>T
ENST00000563917.1:n.442+1G>T
ENST00000564752.1:c.568+1G>T	ENSP00000457822.1:n.568+1G>T
ENST00000565471.5:c.84-1503G>T	ENSP00000457384.1:n.84-1503G>T
ENST00000566347.5:c.353+1G>T	ENSP00000457783.1:n.353+1G>T
ENST00000567060.5:c.298-1542G>T	ENSP00000454818.1:n.298-1542G>T
NM_017882.2:c.542+1G>T	NP_060352.1:n.542+1G>T
XR_931861.1:n.764+1G>T
NM_017882.3:c.542+1G>T MANE Select	NP_060352.1:n.542+1G>T