Canonical Allele Identifier: CA313924

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 205146
• ClinVar RCV Id: RCV000711261 ; RCV000702222 ; RCV001785512 ; RCV003243011
• dbSNP Id: rs142870036
• ExAC: 13:77570223 A / G
• gnomAD v2: 13-77570223-A-G
• gnomAD v3: 13-76996088-A-G
• gnomAD v4: 13-76996088-A-G
• MyVariant Identifiers: chr13:g.77570223A>G (hg19) ; chr13:g.76996088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996088A>G , CM000675.2:g.76996088A>G	GRCh38
NC_000013.10:g.77570223A>G , CM000675.1:g.77570223A>G	GRCh37
NC_000013.9:g.76468224A>G	NCBI36
NG_009064.1:g.9165A>G , LRG_692:g.9165A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.526A>G (CLN5) MANE Select	ENSP00000366673.5:p.Lys176Glu
ENST00000485938.4:c.526A>G (CLN5)	ENSP00000482959.3:p.Lys176Glu
ENST00000616833.6:c.526A>G (CLN5)	ENSP00000479547.3:p.Lys176Glu
ENST00000635838.1:c.135A>G
ENST00000635905.1:n.527A>G (CLN5)
ENST00000635915.1:c.524A>G (CLN5)
ENST00000635989.1:n.593A>G (CLN5)
ENST00000636183.2:c.526A>G (CLN5)	ENSP00000490181.2:p.Lys176Glu
ENST00000636520.1:n.2038A>G (CLN5)
ENST00000636525.2:c.526A>G (CLN5)	ENSP00000490078.2:p.Lys176Glu
ENST00000636602.1:n.472A>G (CLN5)
ENST00000636681.1:c.*217A>G (CLN5)	ENSP00000489922.1:n.*217A>G
ENST00000636705.1:c.362A>G (CLN5)
ENST00000636767.2:c.526A>G (CLN5)	ENSP00000489855.2:p.Lys176Glu
ENST00000636780.2:c.526A>G (CLN5)	ENSP00000489809.2:p.Lys176Glu
ENST00000637192.1:c.174A>G
ENST00000637278.1:n.852A>G (CLN5)
ENST00000637397.2:c.526A>G (CLN5)	ENSP00000490422.2:p.Lys176Glu
ENST00000637537.2:c.526A>G (CLN5)	ENSP00000489711.2:p.Lys176Glu
ENST00000638101.1:c.130A>G	ENSP00000490535.1:p.Lys44Glu
ENST00000638147.2:c.526A>G	ENSP00000490953.2:p.Lys176Glu
ENST00000377453.7:c.673A>G (CLN5)	ENSP00000366673.3:p.Lys225Glu
ENST00000485797.2:n.174-3137T>C (FBXL3)
ENST00000485938.2:c.509A>G (CLN5)
ENST00000616833.4:c.526A>G (CLN5)	ENSP00000479547.1:p.Lys176Glu
NM_006493.2:c.673A>G , LRG_692t1:c.673A>G (CLN5)	NP_006484.1:p.Lys225Glu
XM_011534917.1:c.673A>G (CLN5)	XP_011533219.1:p.Lys225Glu
NM_001366624.1:c.526A>G (CLN5)	NP_001353553.1:p.Lys176Glu
NM_006493.3:c.526A>G (CLN5)	NP_006484.2:p.Lys176Glu
XM_017020538.2:c.644-3137T>C (FBXL3)	XP_016876027.1:n.644-3137T>C
NM_001366624.2:c.526A>G (CLN5)	NP_001353553.1:p.Lys176Glu
NM_006493.4:c.526A>G (CLN5) MANE Select	NP_006484.2:p.Lys176Glu