Canonical Allele Identifier: CA056360
Gene: CLN8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.[1771262C>T;1780498C>G] , CM000670.2:g.[1771262C>T;1780498C>G] GRCh38
NC_000008.10:g.[1719428C>T;1728664C>G] , CM000670.1:g.[1719428C>T;1728664C>G] GRCh37
NC_000008.9:g.[1706835C>T;1716071C>G] NCBI36
NG_008656.2:g.[20485C>T;29721C>G] , LRG_691:g.[20485C>T;29721C>G]

Transcript Alleles

HGVS Amino-acid Change
ENST00000331222.6:c.[208C>T;792C>G] MANE Select ENSP00000328182.4:p.[Arg70Cys;Asn264Lys]
ENST00000519254.2:c.[208C>T;792C>G] ENSP00000490016.1:p.[Arg70Cys;Asn264Lys]
ENST00000520991.3:c.[208C>T;*203C>G] ENSP00000487905.2:[p.Arg70Cys;n.*203C>G]
ENST00000635751.1:c.[208C>T;792C>G] ENSP00000489694.1:p.[Arg70Cys;Asn264Lys]
ENST00000635773.1:c.[161C>T;496+8901C>G]
ENST00000635855.1:c.[208C>T;543+8901C>G] ENSP00000489726.1:p.Arg70Cys
ENST00000635970.1:c.[208C>T;792C>G] ENSP00000490439.1:p.[Arg70Cys;Asn264Lys]
ENST00000636175.1:c.[8C>T;343+8901C>G]
ENST00000636934.1:c.[208C>T;543+8901C>G] ENSP00000490218.1:p.Arg70Cys
ENST00000637083.1:c.[208C>T;792C>G] ENSP00000490235.1:p.[Arg70Cys;Asn264Lys]
ENST00000637156.1:c.[208C>T;792C>G] ENSP00000490458.1:p.[Arg70Cys;Asn264Lys]
ENST00000331222.4:c.[208C>T;792C>G] ENSP00000328182.4:p.[Arg70Cys;Asn264Lys]
NM_018941.3:c.[208C>T;792C>G] , LRG_691t1:c.[208C>T;792C>G] NP_061764.2:p.[Arg70Cys;Asn264Lys]
XM_005266021.3:c.[208C>T;792C>G] XP_005266078.1:p.[Arg70Cys;Asn264Lys]
XM_005266022.1:c.[208C>T;792C>G] XP_005266079.1:p.[Arg70Cys;Asn264Lys]
XM_005266023.1:c.[208C>T;792C>G] XP_005266080.1:p.[Arg70Cys;Asn264Lys]
XM_011534745.1:c.[208C>T;792C>G] XP_011533047.1:p.[Arg70Cys;Asn264Lys]
XM_011534746.1:c.[208C>T;792C>G] XP_011533048.1:p.[Arg70Cys;Asn264Lys]
XM_005266021.4:c.[208C>T;792C>G] XP_005266078.1:p.[Arg70Cys;Asn264Lys]
XM_011534746.2:c.[208C>T;792C>G] XP_011533048.1:p.[Arg70Cys;Asn264Lys]
NM_018941.4:c.[208C>T;792C>G] MANE Select NP_061764.2:p.[Arg70Cys;Asn264Lys]