Canonical Allele Identifier: CA392972012

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1434998
• ClinVar RCV Id: RCV001955205
• dbSNP Id: rs1274562752
• gnomAD v2: 15-68500657-G-C
• gnomAD v3: 15-68208319-G-C
• gnomAD v4: 15-68208319-G-C
• MyVariant Identifiers: chr15:g.68500657G>C (hg19) ; chr15:g.68208319G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208319G>C , CM000677.2:g.68208319G>C	GRCh38
NC_000015.9:g.68500657G>C , CM000677.1:g.68500657G>C	GRCh37
NC_000015.8:g.66287711G>C	NCBI36
NG_008764.2:g.53893C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.757C>G MANE Select	ENSP00000249806.5:p.Leu253Val
ENST00000562767.2:c.84-10691C>G	ENSP00000456336.1:n.84-10691C>G
ENST00000565471.6:c.298C>G	ENSP00000457384.1:p.Leu100Val
ENST00000635747.1:c.*660C>G	ENSP00000490627.1:n.*660C>G
ENST00000636212.1:c.*427C>G	ENSP00000489851.1:n.*427C>G
ENST00000636674.1:n.1859C>G
ENST00000636964.1:n.2285C>G
ENST00000637054.1:c.198+10217C>G	ENSP00000490807.1:n.198+10217C>G
ENST00000637329.1:c.726C>G
ENST00000637450.1:c.*411C>G	ENSP00000490204.1:n.*411C>G
ENST00000637494.1:c.469C>G	ENSP00000490057.1:p.Leu157Val
ENST00000637667.1:c.658C>G	ENSP00000489843.1:p.Leu220Val
ENST00000637823.1:c.582C>G
ENST00000637888.1:c.198+10217C>G	ENSP00000490546.1:n.198+10217C>G
ENST00000638076.1:c.*360C>G	ENSP00000490373.1:n.*360C>G
ENST00000638144.1:n.400C>G
ENST00000646164.1:c.39-8638C>G
ENST00000249806.9:c.757C>G	ENSP00000249806.5:p.Leu253Val
ENST00000538696.5:c.853C>G	ENSP00000445770.1:p.Leu285Val
ENST00000562767.1:c.84-10691C>G	ENSP00000456336.1:n.84-10691C>G
ENST00000565471.5:c.298C>G	ENSP00000457384.1:p.Leu100Val
ENST00000566347.5:c.568C>G	ENSP00000457783.1:p.Leu190Val
ENST00000567060.5:c.*155C>G	ENSP00000454818.1:n.*155C>G
NM_017882.2:c.757C>G	NP_060352.1:p.Leu253Val
NM_017882.3:c.757C>G MANE Select	NP_060352.1:p.Leu253Val