Canonical Allele Identifier: CA491099944

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2740907
• ClinVar RCV Id: RCV003531640
• gnomAD v4: 15-68208274-G-A
• MyVariant Identifiers: chr15:g.68500612G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208274G>A , CM000677.2:g.68208274G>A	GRCh38
NC_000015.9:g.68500612G>A , CM000677.1:g.68500612G>A	GRCh37
NC_000015.8:g.66287666G>A	NCBI36
NG_008764.2:g.53938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.802C>T MANE Select	ENSP00000249806.5:p.Leu268=
ENST00000562767.2:c.84-10646C>T	ENSP00000456336.1:n.84-10646C>T
ENST00000565471.6:c.343C>T	ENSP00000457384.1:p.Leu115=
ENST00000635747.1:c.*705C>T	ENSP00000490627.1:n.*705C>T
ENST00000636212.1:c.*472C>T	ENSP00000489851.1:n.*472C>T
ENST00000636674.1:n.1904C>T
ENST00000636964.1:n.2330C>T
ENST00000637054.1:c.198+10262C>T	ENSP00000490807.1:n.198+10262C>T
ENST00000637329.1:c.771C>T
ENST00000637450.1:c.*456C>T	ENSP00000490204.1:n.*456C>T
ENST00000637494.1:c.514C>T	ENSP00000490057.1:p.Leu172=
ENST00000637667.1:c.703C>T	ENSP00000489843.1:p.Leu235=
ENST00000637823.1:c.627C>T
ENST00000637888.1:c.198+10262C>T	ENSP00000490546.1:n.198+10262C>T
ENST00000638076.1:c.*405C>T	ENSP00000490373.1:n.*405C>T
ENST00000638144.1:n.445C>T
ENST00000646164.1:c.39-8593C>T
ENST00000249806.9:c.802C>T	ENSP00000249806.5:p.Leu268=
ENST00000538696.5:c.898C>T	ENSP00000445770.1:p.Leu300=
ENST00000562767.1:c.84-10646C>T	ENSP00000456336.1:n.84-10646C>T
ENST00000565471.5:c.343C>T	ENSP00000457384.1:p.Leu115=
ENST00000566347.5:c.613C>T	ENSP00000457783.1:p.Leu205=
ENST00000567060.5:c.*200C>T	ENSP00000454818.1:n.*200C>T
NM_017882.2:c.802C>T	NP_060352.1:p.Leu268=
NM_017882.3:c.802C>T MANE Select	NP_060352.1:p.Leu268=