Canonical Allele Identifier: CA388314924

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 2558880
• ClinVar RCV Id: RCV003300612
• MyVariant Identifiers: chr13:g.77575071A>C (hg19) ; chr13:g.77000936A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000936A>C , CM000675.2:g.77000936A>C	GRCh38
NC_000013.10:g.77575071A>C , CM000675.1:g.77575071A>C	GRCh37
NC_000013.9:g.76473072A>C	NCBI36
NG_009064.1:g.14013A>C , LRG_692:g.14013A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.1044A>C (CLN5) MANE Select	ENSP00000366673.5:p.Leu348Phe
ENST00000616833.6:c.*486A>C (CLN5)	ENSP00000479547.3:n.*486A>C
ENST00000635838.1:c.174+4809A>C
ENST00000635905.1:n.566+4809A>C (CLN5)
ENST00000635915.1:c.1042A>C (CLN5)
ENST00000636183.2:c.1044A>C (CLN5)	ENSP00000490181.2:p.Leu348Phe
ENST00000636525.2:c.565+4809A>C (CLN5)	ENSP00000490078.2:n.565+4809A>C
ENST00000636681.1:c.*735A>C (CLN5)	ENSP00000489922.1:n.*735A>C
ENST00000636705.1:c.880A>C (CLN5)
ENST00000636767.2:c.565+4809A>C (CLN5)	ENSP00000489855.2:n.565+4809A>C
ENST00000636780.2:c.*493A>C (CLN5)	ENSP00000489809.2:n.*493A>C
ENST00000637192.1:c.213+4809A>C
ENST00000637278.1:n.1370A>C (CLN5)
ENST00000637397.2:c.565+4809A>C (CLN5)	ENSP00000490422.2:n.565+4809A>C
ENST00000638101.1:c.169+4809A>C	ENSP00000490535.1:n.169+4809A>C
ENST00000638147.2:c.565+4809A>C	ENSP00000490953.2:n.565+4809A>C
ENST00000377453.7:c.1191A>C (CLN5)	ENSP00000366673.3:p.Leu397Phe
ENST00000477982.2:n.1373T>G (FBXL3)
ENST00000485797.2:n.174-7985T>G (FBXL3)
ENST00000616833.4:c.1044A>C (CLN5)	ENSP00000479547.1:p.Leu348Phe
NM_006493.2:c.1191A>C , LRG_692t1:c.1191A>C (CLN5)	NP_006484.1:p.Leu397Phe
NM_001366624.1:c.*493A>C (CLN5)	NP_001353553.1:n.*493A>C
NM_006493.3:c.1044A>C (CLN5)	NP_006484.2:p.Leu348Phe
XM_017020538.2:c.644-7985T>G (FBXL3)	XP_016876027.1:n.644-7985T>G
NM_001366624.2:c.*493A>C (CLN5)	NP_001353553.1:n.*493A>C
NM_006493.4:c.1044A>C (CLN5) MANE Select	NP_006484.2:p.Leu348Phe