Canonical Allele Identifier: CA491099999

Gene: CLN6

Linked Data

• ClinVar Variation Id: 765989
• ClinVar RCV Id: RCV001452538
• dbSNP Id: rs1567094628
• gnomAD v4: 15-68208317-G-C
• COSMIC: COSM4649543
• MyVariant Identifiers: chr15:g.68500655G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208317G>C , CM000677.2:g.68208317G>C	GRCh38
NC_000015.9:g.68500655G>C , CM000677.1:g.68500655G>C	GRCh37
NC_000015.8:g.66287709G>C	NCBI36
NG_008764.2:g.53895C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.759C>G MANE Select	ENSP00000249806.5:p.Leu253=
ENST00000562767.2:c.84-10689C>G	ENSP00000456336.1:n.84-10689C>G
ENST00000565471.6:c.300C>G	ENSP00000457384.1:p.Leu100=
ENST00000635747.1:c.*662C>G	ENSP00000490627.1:n.*662C>G
ENST00000636212.1:c.*429C>G	ENSP00000489851.1:n.*429C>G
ENST00000636674.1:n.1861C>G
ENST00000636964.1:n.2287C>G
ENST00000637054.1:c.198+10219C>G	ENSP00000490807.1:n.198+10219C>G
ENST00000637329.1:c.728C>G
ENST00000637450.1:c.*413C>G	ENSP00000490204.1:n.*413C>G
ENST00000637494.1:c.471C>G	ENSP00000490057.1:p.Leu157=
ENST00000637667.1:c.660C>G	ENSP00000489843.1:p.Leu220=
ENST00000637823.1:c.584C>G
ENST00000637888.1:c.198+10219C>G	ENSP00000490546.1:n.198+10219C>G
ENST00000638076.1:c.*362C>G	ENSP00000490373.1:n.*362C>G
ENST00000638144.1:n.402C>G
ENST00000646164.1:c.39-8636C>G
ENST00000249806.9:c.759C>G	ENSP00000249806.5:p.Leu253=
ENST00000538696.5:c.855C>G	ENSP00000445770.1:p.Leu285=
ENST00000562767.1:c.84-10689C>G	ENSP00000456336.1:n.84-10689C>G
ENST00000565471.5:c.300C>G	ENSP00000457384.1:p.Leu100=
ENST00000566347.5:c.570C>G	ENSP00000457783.1:p.Leu190=
ENST00000567060.5:c.*157C>G	ENSP00000454818.1:n.*157C>G
NM_017882.2:c.759C>G	NP_060352.1:p.Leu253=
NM_017882.3:c.759C>G MANE Select	NP_060352.1:p.Leu253=