Canonical Allele Identifier: CA392971959

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1064768
• ClinVar RCV Id: RCV001374904
• dbSNP Id: rs2141136011
• MyVariant Identifiers: chr15:g.68500632A>G (hg19) ; chr15:g.68208294A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208294A>G , CM000677.2:g.68208294A>G	GRCh38
NC_000015.9:g.68500632A>G , CM000677.1:g.68500632A>G	GRCh37
NC_000015.8:g.66287686A>G	NCBI36
NG_008764.2:g.53918T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.782T>C MANE Select	ENSP00000249806.5:p.Phe261Ser
ENST00000562767.2:c.84-10666T>C	ENSP00000456336.1:n.84-10666T>C
ENST00000565471.6:c.323T>C	ENSP00000457384.1:p.Phe108Ser
ENST00000635747.1:c.*685T>C	ENSP00000490627.1:n.*685T>C
ENST00000636212.1:c.*452T>C	ENSP00000489851.1:n.*452T>C
ENST00000636674.1:n.1884T>C
ENST00000636964.1:n.2310T>C
ENST00000637054.1:c.198+10242T>C	ENSP00000490807.1:n.198+10242T>C
ENST00000637329.1:c.751T>C
ENST00000637450.1:c.*436T>C	ENSP00000490204.1:n.*436T>C
ENST00000637494.1:c.494T>C	ENSP00000490057.1:p.Phe165Ser
ENST00000637667.1:c.683T>C	ENSP00000489843.1:p.Phe228Ser
ENST00000637823.1:c.607T>C
ENST00000637888.1:c.198+10242T>C	ENSP00000490546.1:n.198+10242T>C
ENST00000638076.1:c.*385T>C	ENSP00000490373.1:n.*385T>C
ENST00000638144.1:n.425T>C
ENST00000646164.1:c.39-8613T>C
ENST00000249806.9:c.782T>C	ENSP00000249806.5:p.Phe261Ser
ENST00000538696.5:c.878T>C	ENSP00000445770.1:p.Phe293Ser
ENST00000562767.1:c.84-10666T>C	ENSP00000456336.1:n.84-10666T>C
ENST00000565471.5:c.323T>C	ENSP00000457384.1:p.Phe108Ser
ENST00000566347.5:c.593T>C	ENSP00000457783.1:p.Phe198Ser
ENST00000567060.5:c.*180T>C	ENSP00000454818.1:n.*180T>C
NM_017882.2:c.782T>C	NP_060352.1:p.Phe261Ser
NM_017882.3:c.782T>C MANE Select	NP_060352.1:p.Phe261Ser