Canonical Allele Identifier: CA388308806

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 1472926
• ClinVar RCV Id: RCV001969412
• dbSNP Id: rs1305273453
• COSMIC: COSM3968646
• MyVariant Identifiers: chr13:g.77570092C>T (hg19) ; chr13:g.76995957C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995957C>T , CM000675.2:g.76995957C>T	GRCh38
NC_000013.10:g.77570092C>T , CM000675.1:g.77570092C>T	GRCh37
NC_000013.9:g.76468093C>T	NCBI36
NG_009064.1:g.9034C>T , LRG_692:g.9034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.395C>T (CLN5) MANE Select	ENSP00000366673.5:p.Thr132Ile
ENST00000485938.4:c.395C>T (CLN5)	ENSP00000482959.3:p.Thr132Ile
ENST00000616833.6:c.395C>T (CLN5)	ENSP00000479547.3:p.Thr132Ile
ENST00000635838.1:c.4C>T
ENST00000635905.1:n.396C>T (CLN5)
ENST00000635915.1:c.393C>T (CLN5)
ENST00000635989.1:n.462C>T (CLN5)
ENST00000636183.2:c.395C>T (CLN5)	ENSP00000490181.2:p.Thr132Ile
ENST00000636520.1:n.1907C>T (CLN5)
ENST00000636525.2:c.395C>T (CLN5)	ENSP00000490078.2:p.Thr132Ile
ENST00000636602.1:n.341C>T (CLN5)
ENST00000636681.1:c.*86C>T (CLN5)	ENSP00000489922.1:n.*86C>T
ENST00000636705.1:c.231C>T (CLN5)
ENST00000636767.2:c.395C>T (CLN5)	ENSP00000489855.2:p.Thr132Ile
ENST00000636780.2:c.395C>T (CLN5)	ENSP00000489809.2:p.Thr132Ile
ENST00000637192.1:c.43C>T
ENST00000637278.1:n.721C>T (CLN5)
ENST00000637397.2:c.395C>T (CLN5)	ENSP00000490422.2:p.Thr132Ile
ENST00000637537.2:c.395C>T (CLN5)	ENSP00000489711.2:p.Thr132Ile
ENST00000638147.2:c.395C>T	ENSP00000490953.2:p.Thr132Ile
ENST00000377453.7:c.542C>T (CLN5)	ENSP00000366673.3:p.Thr181Ile
ENST00000485797.2:n.174-3006G>A (FBXL3)
ENST00000485938.2:c.378C>T (CLN5)
ENST00000616833.4:c.395C>T (CLN5)	ENSP00000479547.1:p.Thr132Ile
NM_006493.2:c.542C>T , LRG_692t1:c.542C>T (CLN5)	NP_006484.1:p.Thr181Ile
XM_011534917.1:c.542C>T (CLN5)	XP_011533219.1:p.Thr181Ile
NM_001366624.1:c.395C>T (CLN5)	NP_001353553.1:p.Thr132Ile
NM_006493.3:c.395C>T (CLN5)	NP_006484.2:p.Thr132Ile
XM_017020538.2:c.644-3006G>A (FBXL3)	XP_016876027.1:n.644-3006G>A
NM_001366624.2:c.395C>T (CLN5)	NP_001353553.1:p.Thr132Ile
NM_006493.4:c.395C>T (CLN5) MANE Select	NP_006484.2:p.Thr132Ile