Canonical Allele Identifier: CA388308707

Gene: CLN5 FBXL3

Linked Data

• MyVariant Identifiers: chr13:g.77570070A>C (hg19) ; chr13:g.76995935A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995935A>C , CM000675.2:g.76995935A>C	GRCh38
NC_000013.10:g.77570070A>C , CM000675.1:g.77570070A>C	GRCh37
NC_000013.9:g.76468071A>C	NCBI36
NG_009064.1:g.9012A>C , LRG_692:g.9012A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.373A>C (CLN5) MANE Select	ENSP00000366673.5:p.Thr125Pro
ENST00000485938.4:c.373A>C (CLN5)	ENSP00000482959.3:p.Thr125Pro
ENST00000616833.6:c.373A>C (CLN5)	ENSP00000479547.3:p.Thr125Pro
ENST00000635905.1:n.374A>C (CLN5)
ENST00000635915.1:c.371A>C (CLN5)
ENST00000635989.1:n.440A>C (CLN5)
ENST00000636183.2:c.373A>C (CLN5)	ENSP00000490181.2:p.Thr125Pro
ENST00000636520.1:n.1885A>C (CLN5)
ENST00000636525.2:c.373A>C (CLN5)	ENSP00000490078.2:p.Thr125Pro
ENST00000636602.1:n.319A>C (CLN5)
ENST00000636681.1:c.*64A>C (CLN5)	ENSP00000489922.1:n.*64A>C
ENST00000636705.1:c.209A>C (CLN5)
ENST00000636767.2:c.373A>C (CLN5)	ENSP00000489855.2:p.Thr125Pro
ENST00000636780.2:c.373A>C (CLN5)	ENSP00000489809.2:p.Thr125Pro
ENST00000637192.1:c.21A>C
ENST00000637278.1:n.699A>C (CLN5)
ENST00000637397.2:c.373A>C (CLN5)	ENSP00000490422.2:p.Thr125Pro
ENST00000637537.2:c.373A>C (CLN5)	ENSP00000489711.2:p.Thr125Pro
ENST00000638147.2:c.373A>C	ENSP00000490953.2:p.Thr125Pro
ENST00000377453.7:c.520A>C (CLN5)	ENSP00000366673.3:p.Thr174Pro
ENST00000485797.2:n.174-2984T>G (FBXL3)
ENST00000485938.2:c.356A>C (CLN5)
ENST00000616833.4:c.373A>C (CLN5)	ENSP00000479547.1:p.Thr125Pro
NM_006493.2:c.520A>C , LRG_692t1:c.520A>C (CLN5)	NP_006484.1:p.Thr174Pro
XM_011534917.1:c.520A>C (CLN5)	XP_011533219.1:p.Thr174Pro
NM_001366624.1:c.373A>C (CLN5)	NP_001353553.1:p.Thr125Pro
NM_006493.3:c.373A>C (CLN5)	NP_006484.2:p.Thr125Pro
XM_017020538.2:c.644-2984T>G (FBXL3)	XP_016876027.1:n.644-2984T>G
NM_001366624.2:c.373A>C (CLN5)	NP_001353553.1:p.Thr125Pro
NM_006493.4:c.373A>C (CLN5) MANE Select	NP_006484.2:p.Thr125Pro