Canonical Allele Identifier: CA484486540

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 2828380
• ClinVar RCV Id: RCV003648320
• MyVariant Identifiers: chr13:g.77570147A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996012A>G , CM000675.2:g.76996012A>G	GRCh38
NC_000013.10:g.77570147A>G , CM000675.1:g.77570147A>G	GRCh37
NC_000013.9:g.76468148A>G	NCBI36
NG_009064.1:g.9089A>G , LRG_692:g.9089A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.450A>G (CLN5) MANE Select	ENSP00000366673.5:p.Arg150=
ENST00000485938.4:c.450A>G (CLN5)	ENSP00000482959.3:p.Arg150=
ENST00000616833.6:c.450A>G (CLN5)	ENSP00000479547.3:p.Arg150=
ENST00000635838.1:c.59A>G
ENST00000635905.1:n.451A>G (CLN5)
ENST00000635915.1:c.448A>G (CLN5)
ENST00000635989.1:n.517A>G (CLN5)
ENST00000636183.2:c.450A>G (CLN5)	ENSP00000490181.2:p.Arg150=
ENST00000636520.1:n.1962A>G (CLN5)
ENST00000636525.2:c.450A>G (CLN5)	ENSP00000490078.2:p.Arg150=
ENST00000636602.1:n.396A>G (CLN5)
ENST00000636681.1:c.*141A>G (CLN5)	ENSP00000489922.1:n.*141A>G
ENST00000636705.1:c.286A>G (CLN5)
ENST00000636767.2:c.450A>G (CLN5)	ENSP00000489855.2:p.Arg150=
ENST00000636780.2:c.450A>G (CLN5)	ENSP00000489809.2:p.Arg150=
ENST00000637192.1:c.98A>G
ENST00000637278.1:n.776A>G (CLN5)
ENST00000637397.2:c.450A>G (CLN5)	ENSP00000490422.2:p.Arg150=
ENST00000637537.2:c.450A>G (CLN5)	ENSP00000489711.2:p.Arg150=
ENST00000638101.1:c.54A>G	ENSP00000490535.1:p.Arg18=
ENST00000638147.2:c.450A>G	ENSP00000490953.2:p.Arg150=
ENST00000377453.7:c.597A>G (CLN5)	ENSP00000366673.3:p.Arg199=
ENST00000485797.2:n.174-3061T>C (FBXL3)
ENST00000485938.2:c.433A>G (CLN5)
ENST00000616833.4:c.450A>G (CLN5)	ENSP00000479547.1:p.Arg150=
NM_006493.2:c.597A>G , LRG_692t1:c.597A>G (CLN5)	NP_006484.1:p.Arg199=
XM_011534917.1:c.597A>G (CLN5)	XP_011533219.1:p.Arg199=
NM_001366624.1:c.450A>G (CLN5)	NP_001353553.1:p.Arg150=
NM_006493.3:c.450A>G (CLN5)	NP_006484.2:p.Arg150=
XM_017020538.2:c.644-3061T>C (FBXL3)	XP_016876027.1:n.644-3061T>C
NM_001366624.2:c.450A>G (CLN5)	NP_001353553.1:p.Arg150=
NM_006493.4:c.450A>G (CLN5) MANE Select	NP_006484.2:p.Arg150=