Canonical Allele Identifier: CA388309441

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 457966
• ClinVar RCV Id: RCV000557447
• dbSNP Id: rs1420822940
• gnomAD v2: 13-77570202-G-A
• gnomAD v3: 13-76996067-G-A
• gnomAD v4: 13-76996067-G-A
• COSMIC: COSM1949617
• MyVariant Identifiers: chr13:g.77570202G>A (hg19) ; chr13:g.76996067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996067G>A , CM000675.2:g.76996067G>A	GRCh38
NC_000013.10:g.77570202G>A , CM000675.1:g.77570202G>A	GRCh37
NC_000013.9:g.76468203G>A	NCBI36
NG_009064.1:g.9144G>A , LRG_692:g.9144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.505G>A (CLN5) MANE Select	ENSP00000366673.5:p.Gly169Arg
ENST00000485938.4:c.505G>A (CLN5)	ENSP00000482959.3:p.Gly169Arg
ENST00000616833.6:c.505G>A (CLN5)	ENSP00000479547.3:p.Gly169Arg
ENST00000635838.1:c.114G>A
ENST00000635905.1:n.506G>A (CLN5)
ENST00000635915.1:c.503G>A (CLN5)
ENST00000635989.1:n.572G>A (CLN5)
ENST00000636183.2:c.505G>A (CLN5)	ENSP00000490181.2:p.Gly169Arg
ENST00000636520.1:n.2017G>A (CLN5)
ENST00000636525.2:c.505G>A (CLN5)	ENSP00000490078.2:p.Gly169Arg
ENST00000636602.1:n.451G>A (CLN5)
ENST00000636681.1:c.*196G>A (CLN5)	ENSP00000489922.1:n.*196G>A
ENST00000636705.1:c.341G>A (CLN5)
ENST00000636767.2:c.505G>A (CLN5)	ENSP00000489855.2:p.Gly169Arg
ENST00000636780.2:c.505G>A (CLN5)	ENSP00000489809.2:p.Gly169Arg
ENST00000637192.1:c.153G>A
ENST00000637278.1:n.831G>A (CLN5)
ENST00000637397.2:c.505G>A (CLN5)	ENSP00000490422.2:p.Gly169Arg
ENST00000637537.2:c.505G>A (CLN5)	ENSP00000489711.2:p.Gly169Arg
ENST00000638101.1:c.109G>A	ENSP00000490535.1:p.Gly37Arg
ENST00000638147.2:c.505G>A	ENSP00000490953.2:p.Gly169Arg
ENST00000377453.7:c.652G>A (CLN5)	ENSP00000366673.3:p.Gly218Arg
ENST00000485797.2:n.174-3116C>T (FBXL3)
ENST00000485938.2:c.488G>A (CLN5)
ENST00000616833.4:c.505G>A (CLN5)	ENSP00000479547.1:p.Gly169Arg
NM_006493.2:c.652G>A , LRG_692t1:c.652G>A (CLN5)	NP_006484.1:p.Gly218Arg
XM_011534917.1:c.652G>A (CLN5)	XP_011533219.1:p.Gly218Arg
NM_001366624.1:c.505G>A (CLN5)	NP_001353553.1:p.Gly169Arg
NM_006493.3:c.505G>A (CLN5)	NP_006484.2:p.Gly169Arg
XM_017020538.2:c.644-3116C>T (FBXL3)	XP_016876027.1:n.644-3116C>T
NM_001366624.2:c.505G>A (CLN5)	NP_001353553.1:p.Gly169Arg
NM_006493.4:c.505G>A (CLN5) MANE Select	NP_006484.2:p.Gly169Arg