Canonical Allele Identifier: CA7630525

Gene: CLN6

Linked Data

• ClinVar Variation Id: 888282
• ClinVar RCV Id: RCV001121504
• dbSNP Id: rs368546281
• ExAC: 15:68502043 G / C
• gnomAD v2: 15-68502043-G-C
• gnomAD v3: 15-68209705-G-C
• gnomAD v4: 15-68209705-G-C
• MyVariant Identifiers: chr15:g.68502043G>C (hg19) ; chr15:g.68209705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209705G>C , CM000677.2:g.68209705G>C	GRCh38
NC_000015.9:g.68502043G>C , CM000677.1:g.68502043G>C	GRCh37
NC_000015.8:g.66289097G>C	NCBI36
NG_008764.2:g.52507C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.597C>G MANE Select	ENSP00000249806.5:p.Ala199=
ENST00000562767.2:c.84-12077C>G	ENSP00000456336.1:n.84-12077C>G
ENST00000563917.2:n.439C>G
ENST00000565471.6:c.138C>G	ENSP00000457384.1:p.Ala46=
ENST00000635747.1:c.*500C>G	ENSP00000490627.1:n.*500C>G
ENST00000636212.1:c.*267C>G	ENSP00000489851.1:n.*267C>G
ENST00000636314.1:c.293C>G	ENSP00000490295.1:p.Pro98Arg
ENST00000636674.1:n.1699C>G
ENST00000636964.1:n.2125C>G
ENST00000637054.1:c.198+8831C>G	ENSP00000490807.1:n.198+8831C>G
ENST00000637223.1:c.*311C>G	ENSP00000490010.1:n.*311C>G
ENST00000637329.1:c.566C>G
ENST00000637450.1:c.*251C>G	ENSP00000490204.1:n.*251C>G
ENST00000637494.1:c.309C>G	ENSP00000490057.1:p.Ala103=
ENST00000637667.1:c.498C>G	ENSP00000489843.1:p.Ala166=
ENST00000637823.1:c.422C>G
ENST00000637888.1:c.198+8831C>G	ENSP00000490546.1:n.198+8831C>G
ENST00000638076.1:c.*200C>G	ENSP00000490373.1:n.*200C>G
ENST00000638144.1:n.240C>G
ENST00000646164.1:c.38+8831C>G
ENST00000249806.9:c.597C>G	ENSP00000249806.5:p.Ala199=
ENST00000538696.5:c.693C>G	ENSP00000445770.1:p.Ala231=
ENST00000562767.1:c.84-12077C>G	ENSP00000456336.1:n.84-12077C>G
ENST00000563917.1:n.497C>G
ENST00000564752.1:c.623C>G	ENSP00000457822.1:p.Pro208Arg
ENST00000565471.5:c.138C>G	ENSP00000457384.1:p.Ala46=
ENST00000566347.5:c.408C>G	ENSP00000457783.1:p.Ala136=
ENST00000567060.5:c.313C>G	ENSP00000454818.1:p.Leu105Val
NM_017882.2:c.597C>G	NP_060352.1:p.Ala199=
XR_931861.1:n.819C>G
NM_017882.3:c.597C>G MANE Select	NP_060352.1:p.Ala199=