Canonical Allele Identifier: CA263884

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 56533
• ClinVar RCV Id: RCV000049946 ; RCV000989149
• dbSNP Id: rs104894386
• MyVariant Identifiers: chr13:g.77569212G>C (hg19) ; chr13:g.76995077G>C (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995077G>C , CM000675.2:g.76995077G>C	GRCh38
NC_000013.10:g.77569212G>C , CM000675.1:g.77569212G>C	GRCh37
NC_000013.9:g.76467213G>C	NCBI36
NG_009064.1:g.8154G>C , LRG_692:g.8154G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.188G>C (CLN5) MANE Select	ENSP00000366673.5:p.Arg63Pro
ENST00000485938.4:c.188G>C (CLN5)	ENSP00000482959.3:p.Arg63Pro
ENST00000616833.6:c.188G>C (CLN5)	ENSP00000479547.3:p.Arg63Pro
ENST00000635905.1:n.189G>C (CLN5)
ENST00000635915.1:c.127G>C (CLN5)
ENST00000635989.1:n.198G>C (CLN5)
ENST00000636183.2:c.188G>C (CLN5)	ENSP00000490181.2:p.Arg63Pro
ENST00000636520.1:n.1027G>C (CLN5)
ENST00000636525.2:c.188G>C (CLN5)	ENSP00000490078.2:p.Arg63Pro
ENST00000636681.1:c.-68G>C (CLN5)	ENSP00000489922.1:n.-68G>C
ENST00000636705.1:c.24G>C (CLN5)
ENST00000636767.2:c.188G>C (CLN5)	ENSP00000489855.2:p.Arg63Pro
ENST00000636780.2:c.188G>C (CLN5)	ENSP00000489809.2:p.Arg63Pro
ENST00000637397.2:c.188G>C (CLN5)	ENSP00000490422.2:p.Arg63Pro
ENST00000637537.2:c.188G>C (CLN5)	ENSP00000489711.2:p.Arg63Pro
ENST00000638147.2:c.188G>C	ENSP00000490953.2:p.Arg63Pro
ENST00000377453.7:c.335G>C (CLN5)	ENSP00000366673.3:p.Arg112Pro
ENST00000485797.2:n.174-2126C>G (FBXL3)
ENST00000485938.2:c.171G>C (CLN5)
ENST00000616833.4:c.188G>C (CLN5)	ENSP00000479547.1:p.Arg63Pro
NM_006493.2:c.335G>C , LRG_692t1:c.335G>C (CLN5)	NP_006484.1:p.Arg112Pro
XM_011534917.1:c.335G>C (CLN5)	XP_011533219.1:p.Arg112Pro
NM_001366624.1:c.188G>C (CLN5)	NP_001353553.1:p.Arg63Pro
NM_006493.3:c.188G>C (CLN5)	NP_006484.2:p.Arg63Pro
XM_017020538.2:c.644-2126C>G (FBXL3)	XP_016876027.1:n.644-2126C>G
NM_001366624.2:c.188G>C (CLN5)	NP_001353553.1:p.Arg63Pro
NM_006493.4:c.188G>C (CLN5) MANE Select	NP_006484.2:p.Arg63Pro