Canonical Allele Identifier: CA388309040

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 1705835
• ClinVar RCV Id: RCV002284145
• MyVariant Identifiers: chr13:g.77570131C>A (hg19) ; chr13:g.76995996C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995996C>A , CM000675.2:g.76995996C>A	GRCh38
NC_000013.10:g.77570131C>A , CM000675.1:g.77570131C>A	GRCh37
NC_000013.9:g.76468132C>A	NCBI36
NG_009064.1:g.9073C>A , LRG_692:g.9073C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.434C>A (CLN5) MANE Select	ENSP00000366673.5:p.Thr145Lys
ENST00000485938.4:c.434C>A (CLN5)	ENSP00000482959.3:p.Thr145Lys
ENST00000616833.6:c.434C>A (CLN5)	ENSP00000479547.3:p.Thr145Lys
ENST00000635838.1:c.43C>A
ENST00000635905.1:n.435C>A (CLN5)
ENST00000635915.1:c.432C>A (CLN5)
ENST00000635989.1:n.501C>A (CLN5)
ENST00000636183.2:c.434C>A (CLN5)	ENSP00000490181.2:p.Thr145Lys
ENST00000636520.1:n.1946C>A (CLN5)
ENST00000636525.2:c.434C>A (CLN5)	ENSP00000490078.2:p.Thr145Lys
ENST00000636602.1:n.380C>A (CLN5)
ENST00000636681.1:c.*125C>A (CLN5)	ENSP00000489922.1:n.*125C>A
ENST00000636705.1:c.270C>A (CLN5)
ENST00000636767.2:c.434C>A (CLN5)	ENSP00000489855.2:p.Thr145Lys
ENST00000636780.2:c.434C>A (CLN5)	ENSP00000489809.2:p.Thr145Lys
ENST00000637192.1:c.82C>A
ENST00000637278.1:n.760C>A (CLN5)
ENST00000637397.2:c.434C>A (CLN5)	ENSP00000490422.2:p.Thr145Lys
ENST00000637537.2:c.434C>A (CLN5)	ENSP00000489711.2:p.Thr145Lys
ENST00000638101.1:c.38C>A	ENSP00000490535.1:p.Thr13Lys
ENST00000638147.2:c.434C>A	ENSP00000490953.2:p.Thr145Lys
ENST00000377453.7:c.581C>A (CLN5)	ENSP00000366673.3:p.Thr194Lys
ENST00000485797.2:n.174-3045G>T (FBXL3)
ENST00000485938.2:c.417C>A (CLN5)
ENST00000616833.4:c.434C>A (CLN5)	ENSP00000479547.1:p.Thr145Lys
NM_006493.2:c.581C>A , LRG_692t1:c.581C>A (CLN5)	NP_006484.1:p.Thr194Lys
XM_011534917.1:c.581C>A (CLN5)	XP_011533219.1:p.Thr194Lys
NM_001366624.1:c.434C>A (CLN5)	NP_001353553.1:p.Thr145Lys
NM_006493.3:c.434C>A (CLN5)	NP_006484.2:p.Thr145Lys
XM_017020538.2:c.644-3045G>T (FBXL3)	XP_016876027.1:n.644-3045G>T
NM_001366624.2:c.434C>A (CLN5)	NP_001353553.1:p.Thr145Lys
NM_006493.4:c.434C>A (CLN5) MANE Select	NP_006484.2:p.Thr145Lys