Canonical Allele Identifier: CA484486482

Gene: CLN5 FBXL3

Linked Data

• MyVariant Identifiers: chr13:g.77570075A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995940A>G , CM000675.2:g.76995940A>G	GRCh38
NC_000013.10:g.77570075A>G , CM000675.1:g.77570075A>G	GRCh37
NC_000013.9:g.76468076A>G	NCBI36
NG_009064.1:g.9017A>G , LRG_692:g.9017A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.378A>G (CLN5) MANE Select	ENSP00000366673.5:p.Leu126=
ENST00000485938.4:c.378A>G (CLN5)	ENSP00000482959.3:p.Leu126=
ENST00000616833.6:c.378A>G (CLN5)	ENSP00000479547.3:p.Leu126=
ENST00000635905.1:n.379A>G (CLN5)
ENST00000635915.1:c.376A>G (CLN5)
ENST00000635989.1:n.445A>G (CLN5)
ENST00000636183.2:c.378A>G (CLN5)	ENSP00000490181.2:p.Leu126=
ENST00000636520.1:n.1890A>G (CLN5)
ENST00000636525.2:c.378A>G (CLN5)	ENSP00000490078.2:p.Leu126=
ENST00000636602.1:n.324A>G (CLN5)
ENST00000636681.1:c.*69A>G (CLN5)	ENSP00000489922.1:n.*69A>G
ENST00000636705.1:c.214A>G (CLN5)
ENST00000636767.2:c.378A>G (CLN5)	ENSP00000489855.2:p.Leu126=
ENST00000636780.2:c.378A>G (CLN5)	ENSP00000489809.2:p.Leu126=
ENST00000637192.1:c.26A>G
ENST00000637278.1:n.704A>G (CLN5)
ENST00000637397.2:c.378A>G (CLN5)	ENSP00000490422.2:p.Leu126=
ENST00000637537.2:c.378A>G (CLN5)	ENSP00000489711.2:p.Leu126=
ENST00000638147.2:c.378A>G	ENSP00000490953.2:p.Leu126=
ENST00000377453.7:c.525A>G (CLN5)	ENSP00000366673.3:p.Leu175=
ENST00000485797.2:n.174-2989T>C (FBXL3)
ENST00000485938.2:c.361A>G (CLN5)
ENST00000616833.4:c.378A>G (CLN5)	ENSP00000479547.1:p.Leu126=
NM_006493.2:c.525A>G , LRG_692t1:c.525A>G (CLN5)	NP_006484.1:p.Leu175=
XM_011534917.1:c.525A>G (CLN5)	XP_011533219.1:p.Leu175=
NM_001366624.1:c.378A>G (CLN5)	NP_001353553.1:p.Leu126=
NM_006493.3:c.378A>G (CLN5)	NP_006484.2:p.Leu126=
XM_017020538.2:c.644-2989T>C (FBXL3)	XP_016876027.1:n.644-2989T>C
NM_001366624.2:c.378A>G (CLN5)	NP_001353553.1:p.Leu126=
NM_006493.4:c.378A>G (CLN5) MANE Select	NP_006484.2:p.Leu126=