Canonical Allele Identifier: CA252176564

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 1466041
• ClinVar RCV Id: RCV001963869
• dbSNP Id: rs1014000261
• gnomAD v4: 13-76996011-G-A
• MyVariant Identifiers: chr13:g.77570146G>A (hg19) ; chr13:g.76996011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996011G>A , CM000675.2:g.76996011G>A	GRCh38
NC_000013.10:g.77570146G>A , CM000675.1:g.77570146G>A	GRCh37
NC_000013.9:g.76468147G>A	NCBI36
NG_009064.1:g.9088G>A , LRG_692:g.9088G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.449G>A (CLN5) MANE Select	ENSP00000366673.5:p.Arg150Gln
ENST00000485938.4:c.449G>A (CLN5)	ENSP00000482959.3:p.Arg150Gln
ENST00000616833.6:c.449G>A (CLN5)	ENSP00000479547.3:p.Arg150Gln
ENST00000635838.1:c.58G>A
ENST00000635905.1:n.450G>A (CLN5)
ENST00000635915.1:c.447G>A (CLN5)
ENST00000635989.1:n.516G>A (CLN5)
ENST00000636183.2:c.449G>A (CLN5)	ENSP00000490181.2:p.Arg150Gln
ENST00000636520.1:n.1961G>A (CLN5)
ENST00000636525.2:c.449G>A (CLN5)	ENSP00000490078.2:p.Arg150Gln
ENST00000636602.1:n.395G>A (CLN5)
ENST00000636681.1:c.*140G>A (CLN5)	ENSP00000489922.1:n.*140G>A
ENST00000636705.1:c.285G>A (CLN5)
ENST00000636767.2:c.449G>A (CLN5)	ENSP00000489855.2:p.Arg150Gln
ENST00000636780.2:c.449G>A (CLN5)	ENSP00000489809.2:p.Arg150Gln
ENST00000637192.1:c.97G>A
ENST00000637278.1:n.775G>A (CLN5)
ENST00000637397.2:c.449G>A (CLN5)	ENSP00000490422.2:p.Arg150Gln
ENST00000637537.2:c.449G>A (CLN5)	ENSP00000489711.2:p.Arg150Gln
ENST00000638101.1:c.53G>A	ENSP00000490535.1:p.Arg18Gln
ENST00000638147.2:c.449G>A	ENSP00000490953.2:p.Arg150Gln
ENST00000377453.7:c.596G>A (CLN5)	ENSP00000366673.3:p.Arg199Gln
ENST00000485797.2:n.174-3060C>T (FBXL3)
ENST00000485938.2:c.432G>A (CLN5)
ENST00000616833.4:c.449G>A (CLN5)	ENSP00000479547.1:p.Arg150Gln
NM_006493.2:c.596G>A , LRG_692t1:c.596G>A (CLN5)	NP_006484.1:p.Arg199Gln
XM_011534917.1:c.596G>A (CLN5)	XP_011533219.1:p.Arg199Gln
NM_001366624.1:c.449G>A (CLN5)	NP_001353553.1:p.Arg150Gln
NM_006493.3:c.449G>A (CLN5)	NP_006484.2:p.Arg150Gln
XM_017020538.2:c.644-3060C>T (FBXL3)	XP_016876027.1:n.644-3060C>T
NM_001366624.2:c.449G>A (CLN5)	NP_001353553.1:p.Arg150Gln
NM_006493.4:c.449G>A (CLN5) MANE Select	NP_006484.2:p.Arg150Gln