Canonical Allele Identifier: CA288749

Gene: CLN8

Linked Data

• ClinVar Variation Id: 95924
• ClinVar RCV Id: RCV000116763 ; RCV000224571 ; RCV000226970 ; RCV000671702 ; RCV001258280 ; RCV002311692
• dbSNP Id: rs150047904
• ExAC: 8:1728557 C / G
• gnomAD v2: 8-1728557-C-G
• gnomAD v3: 8-1780391-C-G
• gnomAD v4: 8-1780391-C-G
• MyVariant Identifiers: chr8:g.1728557C>G (hg19) ; chr8:g.1780391C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780391C>G , CM000670.2:g.1780391C>G	GRCh38
NC_000008.10:g.1728557C>G , CM000670.1:g.1728557C>G	GRCh37
NC_000008.9:g.1715964C>G	NCBI36
NG_008656.2:g.29614C>G , LRG_691:g.29614C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.685C>G MANE Select	ENSP00000328182.4:p.Pro229Ala
ENST00000519254.2:c.685C>G	ENSP00000490016.1:p.Pro229Ala
ENST00000520991.3:c.*96C>G	ENSP00000487905.2:n.*96C>G
ENST00000635751.1:c.685C>G	ENSP00000489694.1:p.Pro229Ala
ENST00000635773.1:c.496+8794C>G
ENST00000635855.1:c.543+8794C>G	ENSP00000489726.1:n.543+8794C>G
ENST00000635970.1:c.685C>G	ENSP00000490439.1:p.Pro229Ala
ENST00000636175.1:c.343+8794C>G
ENST00000636934.1:c.543+8794C>G	ENSP00000490218.1:n.543+8794C>G
ENST00000637083.1:c.685C>G	ENSP00000490235.1:p.Pro229Ala
ENST00000637156.1:c.685C>G	ENSP00000490458.1:p.Pro229Ala
ENST00000331222.4:c.685C>G	ENSP00000328182.4:p.Pro229Ala
ENST00000519254.1:n.204C>G
ENST00000523237.1:n.460C>G
NM_018941.3:c.685C>G , LRG_691t1:c.685C>G	NP_061764.2:p.Pro229Ala
XM_005266021.3:c.685C>G	XP_005266078.1:p.Pro229Ala
XM_005266022.1:c.685C>G	XP_005266079.1:p.Pro229Ala
XM_005266023.1:c.685C>G	XP_005266080.1:p.Pro229Ala
XM_011534745.1:c.685C>G	XP_011533047.1:p.Pro229Ala
XM_011534746.1:c.685C>G	XP_011533048.1:p.Pro229Ala
XM_005266021.4:c.685C>G	XP_005266078.1:p.Pro229Ala
XM_011534746.2:c.685C>G	XP_011533048.1:p.Pro229Ala
NM_018941.4:c.685C>G MANE Select	NP_061764.2:p.Pro229Ala