Canonical Allele Identifier: CA7630537

Gene: CLN6

Linked Data

• ClinVar Variation Id: 938443
• ClinVar RCV Id: RCV001207661 ; RCV002348678
• dbSNP Id: rs766500060
• ExAC: 15:68502093 T / C
• gnomAD v2: 15-68502093-T-C
• gnomAD v4: 15-68209755-T-C
• MyVariant Identifiers: chr15:g.68502093T>C (hg19) ; chr15:g.68209755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209755T>C , CM000677.2:g.68209755T>C	GRCh38
NC_000015.9:g.68502093T>C , CM000677.1:g.68502093T>C	GRCh37
NC_000015.8:g.66289147T>C	NCBI36
NG_008764.2:g.52457A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.547A>G MANE Select	ENSP00000249806.5:p.Ile183Val
ENST00000562767.2:c.84-12127A>G	ENSP00000456336.1:n.84-12127A>G
ENST00000563917.2:n.389A>G
ENST00000565471.6:c.88A>G	ENSP00000457384.1:p.Ile30Val
ENST00000635747.1:c.*450A>G	ENSP00000490627.1:n.*450A>G
ENST00000636212.1:c.*217A>G	ENSP00000489851.1:n.*217A>G
ENST00000636314.1:c.243A>G	ENSP00000490295.1:p.Thr81=
ENST00000636674.1:n.1649A>G
ENST00000636964.1:n.2075A>G
ENST00000637054.1:c.198+8781A>G	ENSP00000490807.1:n.198+8781A>G
ENST00000637223.1:c.*261A>G	ENSP00000490010.1:n.*261A>G
ENST00000637329.1:c.516A>G
ENST00000637450.1:c.*201A>G	ENSP00000490204.1:n.*201A>G
ENST00000637494.1:c.259A>G	ENSP00000490057.1:p.Ile87Val
ENST00000637667.1:c.448A>G	ENSP00000489843.1:p.Ile150Val
ENST00000637823.1:c.372A>G
ENST00000637888.1:c.198+8781A>G	ENSP00000490546.1:n.198+8781A>G
ENST00000638076.1:c.*150A>G	ENSP00000490373.1:n.*150A>G
ENST00000638144.1:n.190A>G
ENST00000646164.1:c.38+8781A>G
ENST00000249806.9:c.547A>G	ENSP00000249806.5:p.Ile183Val
ENST00000538696.5:c.643A>G	ENSP00000445770.1:p.Ile215Val
ENST00000562767.1:c.84-12127A>G	ENSP00000456336.1:n.84-12127A>G
ENST00000563917.1:n.447A>G
ENST00000564752.1:c.573A>G	ENSP00000457822.1:p.Thr191=
ENST00000565471.5:c.88A>G	ENSP00000457384.1:p.Ile30Val
ENST00000566347.5:c.358A>G	ENSP00000457783.1:p.Ile120Val
ENST00000567060.5:c.298-35A>G	ENSP00000454818.1:n.298-35A>G
NM_017882.2:c.547A>G	NP_060352.1:p.Ile183Val
XR_931861.1:n.769A>G
NM_017882.3:c.547A>G MANE Select	NP_060352.1:p.Ile183Val