Canonical Allele Identifier: CA4599265
Gene: CLN8 HGNC NCBI

Linked Data

dbSNP Id: rs764468452
gnomAD v2: 8-1719671-G-C
gnomAD v4: 8-1771505-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1771505G>C , CM000670.2:g.1771505G>C GRCh38
NC_000008.10:g.1719671G>C , CM000670.1:g.1719671G>C GRCh37
NC_000008.9:g.1707078G>C NCBI36
NG_008656.2:g.20728G>C , LRG_691:g.20728G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331222.6:c.451G>C MANE Select ENSP00000328182.4:p.Val151Leu
ENST00000519254.2:c.451G>C ENSP00000490016.1:p.Val151Leu
ENST00000520991.3:c.451G>C ENSP00000487905.2:p.Val151Leu
ENST00000635751.1:c.451G>C ENSP00000489694.1:p.Val151Leu
ENST00000635773.1:c.404G>C
ENST00000635855.1:c.451G>C ENSP00000489726.1:p.Val151Leu
ENST00000635970.1:c.451G>C ENSP00000490439.1:p.Val151Leu
ENST00000636175.1:c.251G>C
ENST00000636934.1:c.451G>C ENSP00000490218.1:p.Val151Leu
ENST00000637083.1:c.451G>C ENSP00000490235.1:p.Val151Leu
ENST00000637156.1:c.451G>C ENSP00000490458.1:p.Val151Leu
ENST00000331222.4:c.451G>C ENSP00000328182.4:p.Val151Leu
ENST00000520991.2:c.451G>C ENSP00000487905.1:p.Val151Leu
NM_018941.3:c.451G>C , LRG_691t1:c.451G>C NP_061764.2:p.Val151Leu
XM_005266021.3:c.451G>C XP_005266078.1:p.Val151Leu
XM_005266022.1:c.451G>C XP_005266079.1:p.Val151Leu
XM_005266023.1:c.451G>C XP_005266080.1:p.Val151Leu
XM_011534745.1:c.451G>C XP_011533047.1:p.Val151Leu
XM_011534746.1:c.451G>C XP_011533048.1:p.Val151Leu
XM_011534747.1:c.451G>C XP_011533049.1:p.Val151Leu
XM_005266021.4:c.451G>C XP_005266078.1:p.Val151Leu
XM_011534746.2:c.451G>C XP_011533048.1:p.Val151Leu
XM_011534747.2:c.451G>C XP_011533049.1:p.Val151Leu
NM_018941.4:c.451G>C MANE Select NP_061764.2:p.Val151Leu