Canonical Allele Identifier: CA7630488

Gene: CLN6

Linked Data

• ClinVar Variation Id: 522701
• ClinVar RCV Id: RCV000625854 ; RCV000799881
• dbSNP Id: rs746753722
• ExAC: 15:68500735 C / T
• gnomAD v2: 15-68500735-C-T
• gnomAD v3: 15-68208397-C-T
• gnomAD v4: 15-68208397-C-T
• COSMIC: COSM5553083
• MyVariant Identifiers: chr15:g.68500735C>T (hg19) ; chr15:g.68208397C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.679G>A MANE Select	ENSP00000249806.5:p.Glu227Lys
ENST00000562767.2:c.84-10769G>A	ENSP00000456336.1:n.84-10769G>A
ENST00000563917.2:n.521G>A
ENST00000565471.6:c.220G>A	ENSP00000457384.1:p.Glu74Lys
ENST00000635747.1:c.*582G>A	ENSP00000490627.1:n.*582G>A
ENST00000636212.1:c.*349G>A	ENSP00000489851.1:n.*349G>A
ENST00000636674.1:n.1781G>A
ENST00000636964.1:n.2207G>A
ENST00000637054.1:c.198+10139G>A	ENSP00000490807.1:n.198+10139G>A
ENST00000637329.1:c.648G>A
ENST00000637450.1:c.*333G>A	ENSP00000490204.1:n.*333G>A
ENST00000637494.1:c.391G>A	ENSP00000490057.1:p.Glu131Lys
ENST00000637667.1:c.580G>A	ENSP00000489843.1:p.Glu194Lys
ENST00000637823.1:c.504G>A
ENST00000637888.1:c.198+10139G>A	ENSP00000490546.1:n.198+10139G>A
ENST00000638076.1:c.*282G>A	ENSP00000490373.1:n.*282G>A
ENST00000638144.1:n.322G>A
ENST00000646164.1:c.39-8716G>A
ENST00000249806.9:c.679G>A	ENSP00000249806.5:p.Glu227Lys
ENST00000538696.5:c.775G>A	ENSP00000445770.1:p.Glu259Lys
ENST00000562767.1:c.84-10769G>A	ENSP00000456336.1:n.84-10769G>A
ENST00000564752.1:c.*63G>A	ENSP00000457822.1:n.*63G>A
ENST00000565471.5:c.220G>A	ENSP00000457384.1:p.Glu74Lys
ENST00000566347.5:c.490G>A	ENSP00000457783.1:p.Glu164Lys
ENST00000567060.5:c.*77G>A	ENSP00000454818.1:n.*77G>A
NM_017882.2:c.679G>A	NP_060352.1:p.Glu227Lys
XR_931861.1:n.901G>A
NM_017882.3:c.679G>A MANE Select	NP_060352.1:p.Glu227Lys