Canonical Allele Identifier: CA392971843

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1990218
• ClinVar RCV Id: RCV002800775
• COSMIC: COSM3503447
• MyVariant Identifiers: chr15:g.68500587C>T (hg19) ; chr15:g.68208249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208249C>T , CM000677.2:g.68208249C>T	GRCh38
NC_000015.9:g.68500587C>T , CM000677.1:g.68500587C>T	GRCh37
NC_000015.8:g.66287641C>T	NCBI36
NG_008764.2:g.53963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.827G>A MANE Select	ENSP00000249806.5:p.Trp276Ter
ENST00000562767.2:c.84-10621G>A	ENSP00000456336.1:n.84-10621G>A
ENST00000565471.6:c.368G>A	ENSP00000457384.1:p.Trp123Ter
ENST00000635747.1:c.*730G>A	ENSP00000490627.1:n.*730G>A
ENST00000636212.1:c.*497G>A	ENSP00000489851.1:n.*497G>A
ENST00000636674.1:n.1929G>A
ENST00000636964.1:n.2355G>A
ENST00000637054.1:c.198+10287G>A	ENSP00000490807.1:n.198+10287G>A
ENST00000637329.1:c.796G>A
ENST00000637450.1:c.*481G>A	ENSP00000490204.1:n.*481G>A
ENST00000637494.1:c.539G>A	ENSP00000490057.1:p.Trp180Ter
ENST00000637667.1:c.728G>A	ENSP00000489843.1:p.Trp243Ter
ENST00000637823.1:c.652G>A
ENST00000637888.1:c.198+10287G>A	ENSP00000490546.1:n.198+10287G>A
ENST00000638076.1:c.*430G>A	ENSP00000490373.1:n.*430G>A
ENST00000638144.1:n.470G>A
ENST00000646164.1:c.39-8568G>A
ENST00000249806.9:c.827G>A	ENSP00000249806.5:p.Trp276Ter
ENST00000538696.5:c.923G>A	ENSP00000445770.1:p.Trp308Ter
ENST00000562767.1:c.84-10621G>A	ENSP00000456336.1:n.84-10621G>A
ENST00000565471.5:c.368G>A	ENSP00000457384.1:p.Trp123Ter
ENST00000566347.5:c.638G>A	ENSP00000457783.1:p.Trp213Ter
ENST00000567060.5:c.*225G>A	ENSP00000454818.1:n.*225G>A
NM_017882.2:c.827G>A	NP_060352.1:p.Trp276Ter
NM_017882.3:c.827G>A MANE Select	NP_060352.1:p.Trp276Ter