Canonical Allele Identifier: CA170443126

Gene: CLN8 CLN8-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1763892G>A , CM000670.2:g.1763892G>A	GRCh38
NC_000008.10:g.1712058G>A , CM000670.1:g.1712058G>A	GRCh37
NC_000008.9:g.1699465G>A	NCBI36
NG_008656.2:g.13115G>A , LRG_691:g.13115G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018941.4:c.-124+7G>A (CLN8) MANE Select	NP_061764.2:n.-124+7G>A
ENST00000331222.6:c.-124+7G>A (CLN8) MANE Select	ENSP00000328182.4:n.-124+7G>A
NM_018941.3:c.-124+7G>A , LRG_691t1:c.-124+7G>A (CLN8)	NP_061764.2:n.-124+7G>A
NR_134303.1:n.151+542C>T (CLN8-AS1)
ENST00000331222.4:c.-124+7G>A (CLN8)	ENSP00000328182.4:n.-124+7G>A
ENST00000519254.2:c.-124+81G>A (CLN8)	ENSP00000490016.1:n.-124+81G>A
ENST00000520991.2:c.-157G>A (CLN8)	ENSP00000487905.1:n.-157G>A
ENST00000520991.3:c.-124+7G>A (CLN8)	ENSP00000487905.2:n.-124+7G>A
ENST00000524258.1:c.-123-7040G>A (CLN8)	ENSP00000488898.1:n.-123-7040G>A
ENST00000524258.2:c.-123-7040G>A (CLN8)	ENSP00000488898.2:n.-123-7040G>A
ENST00000635751.1:c.-173G>A (CLN8)	ENSP00000489694.1:n.-173G>A
ENST00000635855.1:c.-173G>A	ENSP00000489726.1:n.-173G>A
ENST00000635970.1:c.-124+7G>A (CLN8)	ENSP00000490439.1:n.-124+7G>A
ENST00000636934.1:c.-124+7G>A (CLN8)	ENSP00000490218.1:n.-124+7G>A
ENST00000637083.1:c.-280+7G>A (CLN8)	ENSP00000490235.1:n.-280+7G>A
ENST00000637156.1:c.-157G>A (CLN8)	ENSP00000490458.1:n.-157G>A
XM_005266021.3:c.-157G>A (CLN8)	XP_005266078.1:n.-157G>A
XM_005266021.4:c.-157G>A (CLN8)	XP_005266078.1:n.-157G>A
XM_005266022.1:c.-123-7040G>A (CLN8)	XP_005266079.1:n.-123-7040G>A
XM_005266023.1:c.-124+81G>A (CLN8)	XP_005266080.1:n.-124+81G>A
XM_011534745.1:c.-173G>A (CLN8)	XP_011533047.1:n.-173G>A
XM_011534747.1:c.-124+7G>A (CLN8)	XP_011533049.1:n.-124+7G>A
XM_011534747.2:c.-124+7G>A (CLN8)	XP_011533049.1:n.-124+7G>A