Canonical Allele Identifier: CA170448650

Gene: CLN8

Linked Data

• ClinVar Variation Id: 1166814
• ClinVar RCV Id: RCV001515437
• dbSNP Id: rs113304303
• MyVariant Identifiers: chr8:g.1728511G>T (hg19) ; chr8:g.1780345G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780345G>T , CM000670.2:g.1780345G>T	GRCh38
NC_000008.10:g.1728511G>T , CM000670.1:g.1728511G>T	GRCh37
NC_000008.9:g.1715918G>T	NCBI36
NG_008656.2:g.29568G>T , LRG_691:g.29568G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000331222.6:c.639G>T MANE Select	ENSP00000328182.4:p.Trp213Cys
ENST00000519254.2:c.639G>T	ENSP00000490016.1:p.Trp213Cys
ENST00000520991.3:c.*50G>T	ENSP00000487905.2:n.*50G>T
ENST00000635751.1:c.639G>T	ENSP00000489694.1:p.Trp213Cys
ENST00000635773.1:c.496+8748G>T
ENST00000635855.1:c.543+8748G>T	ENSP00000489726.1:n.543+8748G>T
ENST00000635970.1:c.639G>T	ENSP00000490439.1:p.Trp213Cys
ENST00000636175.1:c.343+8748G>T
ENST00000636934.1:c.543+8748G>T	ENSP00000490218.1:n.543+8748G>T
ENST00000637083.1:c.639G>T	ENSP00000490235.1:p.Trp213Cys
ENST00000637156.1:c.639G>T	ENSP00000490458.1:p.Trp213Cys
ENST00000331222.4:c.639G>T	ENSP00000328182.4:p.Trp213Cys
ENST00000519254.1:n.158G>T
ENST00000523237.1:n.414G>T
NM_018941.3:c.639G>T , LRG_691t1:c.639G>T	NP_061764.2:p.Trp213Cys
XM_005266021.3:c.639G>T	XP_005266078.1:p.Trp213Cys
XM_005266022.1:c.639G>T	XP_005266079.1:p.Trp213Cys
XM_005266023.1:c.639G>T	XP_005266080.1:p.Trp213Cys
XM_011534745.1:c.639G>T	XP_011533047.1:p.Trp213Cys
XM_011534746.1:c.639G>T	XP_011533048.1:p.Trp213Cys
XM_005266021.4:c.639G>T	XP_005266078.1:p.Trp213Cys
XM_011534746.2:c.639G>T	XP_011533048.1:p.Trp213Cys
NM_018941.4:c.639G>T MANE Select	NP_061764.2:p.Trp213Cys