Canonical Allele Identifier: CA392972349

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500735C>A (hg19) ; chr15:g.68208397C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208397C>A , CM000677.2:g.68208397C>A	GRCh38
NC_000015.9:g.68500735C>A , CM000677.1:g.68500735C>A	GRCh37
NC_000015.8:g.66287789C>A	NCBI36
NG_008764.2:g.53815G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.679G>T MANE Select	ENSP00000249806.5:p.Glu227Ter
ENST00000562767.2:c.84-10769G>T	ENSP00000456336.1:n.84-10769G>T
ENST00000563917.2:n.521G>T
ENST00000565471.6:c.220G>T	ENSP00000457384.1:p.Glu74Ter
ENST00000635747.1:c.*582G>T	ENSP00000490627.1:n.*582G>T
ENST00000636212.1:c.*349G>T	ENSP00000489851.1:n.*349G>T
ENST00000636674.1:n.1781G>T
ENST00000636964.1:n.2207G>T
ENST00000637054.1:c.198+10139G>T	ENSP00000490807.1:n.198+10139G>T
ENST00000637329.1:c.648G>T
ENST00000637450.1:c.*333G>T	ENSP00000490204.1:n.*333G>T
ENST00000637494.1:c.391G>T	ENSP00000490057.1:p.Glu131Ter
ENST00000637667.1:c.580G>T	ENSP00000489843.1:p.Glu194Ter
ENST00000637823.1:c.504G>T
ENST00000637888.1:c.198+10139G>T	ENSP00000490546.1:n.198+10139G>T
ENST00000638076.1:c.*282G>T	ENSP00000490373.1:n.*282G>T
ENST00000638144.1:n.322G>T
ENST00000646164.1:c.39-8716G>T
ENST00000249806.9:c.679G>T	ENSP00000249806.5:p.Glu227Ter
ENST00000538696.5:c.775G>T	ENSP00000445770.1:p.Glu259Ter
ENST00000562767.1:c.84-10769G>T	ENSP00000456336.1:n.84-10769G>T
ENST00000564752.1:c.*63G>T	ENSP00000457822.1:n.*63G>T
ENST00000565471.5:c.220G>T	ENSP00000457384.1:p.Glu74Ter
ENST00000566347.5:c.490G>T	ENSP00000457783.1:p.Glu164Ter
ENST00000567060.5:c.*77G>T	ENSP00000454818.1:n.*77G>T
NM_017882.2:c.679G>T	NP_060352.1:p.Glu227Ter
XR_931861.1:n.901G>T
NM_017882.3:c.679G>T MANE Select	NP_060352.1:p.Glu227Ter