Canonical Allele Identifier: CA392973366
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1055336
ClinVar RCV Id: RCV001363987
dbSNP Id: rs2141139183

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211706G>C , CM000677.2:g.68211706G>C GRCh38
NC_000015.9:g.68504044G>C , CM000677.1:g.68504044G>C GRCh37
NC_000015.8:g.66291098G>C NCBI36
NG_008764.2:g.50506C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.455C>G MANE Select ENSP00000249806.5:p.Pro152Arg
ENST00000562767.2:c.84-14078C>G ENSP00000456336.1:n.84-14078C>G
ENST00000563917.2:n.297C>G
ENST00000565471.6:c.84-1947C>G ENSP00000457384.1:n.84-1947C>G
ENST00000635747.1:c.*358C>G ENSP00000490627.1:n.*358C>G
ENST00000636212.1:c.*6C>G ENSP00000489851.1:n.*6C>G
ENST00000636314.1:c.183-388C>G ENSP00000490295.1:n.183-388C>G
ENST00000636674.1:n.1438C>G
ENST00000636964.1:n.1627C>G
ENST00000637054.1:c.198+6830C>G ENSP00000490807.1:n.198+6830C>G
ENST00000637223.1:c.*201-388C>G ENSP00000490010.1:n.*201-388C>G
ENST00000637329.1:c.424C>G
ENST00000637450.1:c.*109C>G ENSP00000490204.1:n.*109C>G
ENST00000637494.1:c.199-388C>G ENSP00000490057.1:n.199-388C>G
ENST00000637667.1:c.356C>G ENSP00000489843.1:p.Pro119Arg
ENST00000637823.1:c.224-63C>G
ENST00000637888.1:c.198+6830C>G ENSP00000490546.1:n.198+6830C>G
ENST00000638076.1:c.455C>G ENSP00000490373.1:p.Pro152Arg
ENST00000638144.1:n.130-388C>G
ENST00000646164.1:c.38+6830C>G
ENST00000249806.9:c.455C>G ENSP00000249806.5:p.Pro152Arg
ENST00000538696.5:c.551C>G ENSP00000445770.1:p.Pro184Arg
ENST00000562767.1:c.84-14078C>G ENSP00000456336.1:n.84-14078C>G
ENST00000563917.1:n.236C>G
ENST00000564752.1:c.455C>G ENSP00000457822.1:p.Pro152Arg
ENST00000565471.5:c.84-1947C>G ENSP00000457384.1:n.84-1947C>G
ENST00000566347.5:c.298-388C>G ENSP00000457783.1:n.298-388C>G
ENST00000567060.5:c.298-1986C>G ENSP00000454818.1:n.298-1986C>G
NM_017882.2:c.455C>G NP_060352.1:p.Pro152Arg
XR_931861.1:n.558C>G
NM_017882.3:c.455C>G MANE Select NP_060352.1:p.Pro152Arg