Canonical Allele Identifier: CA243394

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 196438
• ClinVar RCV Id: RCV000724376 ; RCV001028014
• dbSNP Id: rs794727507
• gnomAD v4: 13-76995977-T-C
• MyVariant Identifiers: chr13:g.77570112T>C (hg19) ; chr13:g.76995977T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995977T>C , CM000675.2:g.76995977T>C	GRCh38
NC_000013.10:g.77570112T>C , CM000675.1:g.77570112T>C	GRCh37
NC_000013.9:g.76468113T>C	NCBI36
NG_009064.1:g.9054T>C , LRG_692:g.9054T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.415T>C (CLN5) MANE Select	ENSP00000366673.5:p.Phe139Leu
ENST00000485938.4:c.415T>C (CLN5)	ENSP00000482959.3:p.Phe139Leu
ENST00000616833.6:c.415T>C (CLN5)	ENSP00000479547.3:p.Phe139Leu
ENST00000635838.1:c.24T>C
ENST00000635905.1:n.416T>C (CLN5)
ENST00000635915.1:c.413T>C (CLN5)
ENST00000635989.1:n.482T>C (CLN5)
ENST00000636183.2:c.415T>C (CLN5)	ENSP00000490181.2:p.Phe139Leu
ENST00000636520.1:n.1927T>C (CLN5)
ENST00000636525.2:c.415T>C (CLN5)	ENSP00000490078.2:p.Phe139Leu
ENST00000636602.1:n.361T>C (CLN5)
ENST00000636681.1:c.*106T>C (CLN5)	ENSP00000489922.1:n.*106T>C
ENST00000636705.1:c.251T>C (CLN5)
ENST00000636767.2:c.415T>C (CLN5)	ENSP00000489855.2:p.Phe139Leu
ENST00000636780.2:c.415T>C (CLN5)	ENSP00000489809.2:p.Phe139Leu
ENST00000637192.1:c.63T>C
ENST00000637278.1:n.741T>C (CLN5)
ENST00000637397.2:c.415T>C (CLN5)	ENSP00000490422.2:p.Phe139Leu
ENST00000637537.2:c.415T>C (CLN5)	ENSP00000489711.2:p.Phe139Leu
ENST00000638101.1:c.19T>C	ENSP00000490535.1:p.Phe7Leu
ENST00000638147.2:c.415T>C	ENSP00000490953.2:p.Phe139Leu
ENST00000377453.7:c.562T>C (CLN5)	ENSP00000366673.3:p.Phe188Leu
ENST00000485797.2:n.174-3026A>G (FBXL3)
ENST00000485938.2:c.398T>C (CLN5)
ENST00000616833.4:c.415T>C (CLN5)	ENSP00000479547.1:p.Phe139Leu
NM_006493.2:c.562T>C , LRG_692t1:c.562T>C (CLN5)	NP_006484.1:p.Phe188Leu
XM_011534917.1:c.562T>C (CLN5)	XP_011533219.1:p.Phe188Leu
NM_001366624.1:c.415T>C (CLN5)	NP_001353553.1:p.Phe139Leu
NM_006493.3:c.415T>C (CLN5)	NP_006484.2:p.Phe139Leu
XM_017020538.2:c.644-3026A>G (FBXL3)	XP_016876027.1:n.644-3026A>G
NM_001366624.2:c.415T>C (CLN5)	NP_001353553.1:p.Phe139Leu
NM_006493.4:c.415T>C (CLN5) MANE Select	NP_006484.2:p.Phe139Leu