Canonical Allele Identifier: CA264167

Gene: CLN8

Linked Data

• ClinVar Variation Id: 56708
• ClinVar RCV Id: RCV000050121
• dbSNP Id: rs386834128
• MyVariant Identifiers: chr8:g.1719684C>T (hg19) ; chr8:g.1771518C>T (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1771518C>T , CM000670.2:g.1771518C>T	GRCh38
NC_000008.10:g.1719684C>T , CM000670.1:g.1719684C>T	GRCh37
NC_000008.9:g.1707091C>T	NCBI36
NG_008656.2:g.20741C>T , LRG_691:g.20741C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000331222.6:c.464C>T MANE Select	ENSP00000328182.4:p.Ala155Val
ENST00000519254.2:c.464C>T	ENSP00000490016.1:p.Ala155Val
ENST00000520991.3:c.464C>T	ENSP00000487905.2:p.Ala155Val
ENST00000635751.1:c.464C>T	ENSP00000489694.1:p.Ala155Val
ENST00000635773.1:c.417C>T
ENST00000635855.1:c.464C>T	ENSP00000489726.1:p.Ala155Val
ENST00000635970.1:c.464C>T	ENSP00000490439.1:p.Ala155Val
ENST00000636175.1:c.264C>T
ENST00000636934.1:c.464C>T	ENSP00000490218.1:p.Ala155Val
ENST00000637083.1:c.464C>T	ENSP00000490235.1:p.Ala155Val
ENST00000637156.1:c.464C>T	ENSP00000490458.1:p.Ala155Val
ENST00000331222.4:c.464C>T	ENSP00000328182.4:p.Ala155Val
ENST00000520991.2:c.464C>T	ENSP00000487905.1:p.Ala155Val
NM_018941.3:c.464C>T , LRG_691t1:c.464C>T	NP_061764.2:p.Ala155Val
XM_005266021.3:c.464C>T	XP_005266078.1:p.Ala155Val
XM_005266022.1:c.464C>T	XP_005266079.1:p.Ala155Val
XM_005266023.1:c.464C>T	XP_005266080.1:p.Ala155Val
XM_011534745.1:c.464C>T	XP_011533047.1:p.Ala155Val
XM_011534746.1:c.464C>T	XP_011533048.1:p.Ala155Val
XM_011534747.1:c.464C>T	XP_011533049.1:p.Ala155Val
XM_005266021.4:c.464C>T	XP_005266078.1:p.Ala155Val
XM_011534746.2:c.464C>T	XP_011533048.1:p.Ala155Val
XM_011534747.2:c.464C>T	XP_011533049.1:p.Ala155Val
NM_018941.4:c.464C>T MANE Select	NP_061764.2:p.Ala155Val