Canonical Allele Identifier: CA369953598

Gene: CLN8

Linked Data

• ClinVar Variation Id: 1497226
• ClinVar RCV Id: RCV001992283
• dbSNP Id: rs752026391
• MyVariant Identifiers: chr8:g.1719672T>C (hg19) ; chr8:g.1771506T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1771506T>C , CM000670.2:g.1771506T>C	GRCh38
NC_000008.10:g.1719672T>C , CM000670.1:g.1719672T>C	GRCh37
NC_000008.9:g.1707079T>C	NCBI36
NG_008656.2:g.20729T>C , LRG_691:g.20729T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.452T>C MANE Select	ENSP00000328182.4:p.Val151Ala
ENST00000519254.2:c.452T>C	ENSP00000490016.1:p.Val151Ala
ENST00000520991.3:c.452T>C	ENSP00000487905.2:p.Val151Ala
ENST00000635751.1:c.452T>C	ENSP00000489694.1:p.Val151Ala
ENST00000635773.1:c.405T>C
ENST00000635855.1:c.452T>C	ENSP00000489726.1:p.Val151Ala
ENST00000635970.1:c.452T>C	ENSP00000490439.1:p.Val151Ala
ENST00000636175.1:c.252T>C
ENST00000636934.1:c.452T>C	ENSP00000490218.1:p.Val151Ala
ENST00000637083.1:c.452T>C	ENSP00000490235.1:p.Val151Ala
ENST00000637156.1:c.452T>C	ENSP00000490458.1:p.Val151Ala
ENST00000331222.4:c.452T>C	ENSP00000328182.4:p.Val151Ala
ENST00000520991.2:c.452T>C	ENSP00000487905.1:p.Val151Ala
NM_018941.3:c.452T>C , LRG_691t1:c.452T>C	NP_061764.2:p.Val151Ala
XM_005266021.3:c.452T>C	XP_005266078.1:p.Val151Ala
XM_005266022.1:c.452T>C	XP_005266079.1:p.Val151Ala
XM_005266023.1:c.452T>C	XP_005266080.1:p.Val151Ala
XM_011534745.1:c.452T>C	XP_011533047.1:p.Val151Ala
XM_011534746.1:c.452T>C	XP_011533048.1:p.Val151Ala
XM_011534747.1:c.452T>C	XP_011533049.1:p.Val151Ala
XM_005266021.4:c.452T>C	XP_005266078.1:p.Val151Ala
XM_011534746.2:c.452T>C	XP_011533048.1:p.Val151Ala
XM_011534747.2:c.452T>C	XP_011533049.1:p.Val151Ala
NM_018941.4:c.452T>C MANE Select	NP_061764.2:p.Val151Ala