Canonical Allele Identifier: CA313918

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 205144
• ClinVar RCV Id: RCV003927734
• dbSNP Id: rs546989392
• ExAC: 13:77570145 C / T
• gnomAD v2: 13-77570145-C-T
• gnomAD v3: 13-76996010-C-T
• gnomAD v4: 13-76996010-C-T
• COSMIC: COSM1163044
• MyVariant Identifiers: chr13:g.77570145C>T (hg19) ; chr13:g.76996010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996010C>T , CM000675.2:g.76996010C>T	GRCh38
NC_000013.10:g.77570145C>T , CM000675.1:g.77570145C>T	GRCh37
NC_000013.9:g.76468146C>T	NCBI36
NG_009064.1:g.9087C>T , LRG_692:g.9087C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.448C>T (CLN5) MANE Select	ENSP00000366673.5:p.Arg150Ter
ENST00000485938.4:c.448C>T (CLN5)	ENSP00000482959.3:p.Arg150Ter
ENST00000616833.6:c.448C>T (CLN5)	ENSP00000479547.3:p.Arg150Ter
ENST00000635838.1:c.57C>T
ENST00000635905.1:n.449C>T (CLN5)
ENST00000635915.1:c.446C>T (CLN5)
ENST00000635989.1:n.515C>T (CLN5)
ENST00000636183.2:c.448C>T (CLN5)	ENSP00000490181.2:p.Arg150Ter
ENST00000636520.1:n.1960C>T (CLN5)
ENST00000636525.2:c.448C>T (CLN5)	ENSP00000490078.2:p.Arg150Ter
ENST00000636602.1:n.394C>T (CLN5)
ENST00000636681.1:c.*139C>T (CLN5)	ENSP00000489922.1:n.*139C>T
ENST00000636705.1:c.284C>T (CLN5)
ENST00000636767.2:c.448C>T (CLN5)	ENSP00000489855.2:p.Arg150Ter
ENST00000636780.2:c.448C>T (CLN5)	ENSP00000489809.2:p.Arg150Ter
ENST00000637192.1:c.96C>T
ENST00000637278.1:n.774C>T (CLN5)
ENST00000637397.2:c.448C>T (CLN5)	ENSP00000490422.2:p.Arg150Ter
ENST00000637537.2:c.448C>T (CLN5)	ENSP00000489711.2:p.Arg150Ter
ENST00000638101.1:c.52C>T	ENSP00000490535.1:p.Arg18Ter
ENST00000638147.2:c.448C>T	ENSP00000490953.2:p.Arg150Ter
ENST00000377453.7:c.595C>T (CLN5)	ENSP00000366673.3:p.Arg199Ter
ENST00000485797.2:n.174-3059G>A (FBXL3)
ENST00000485938.2:c.431C>T (CLN5)
ENST00000616833.4:c.448C>T (CLN5)	ENSP00000479547.1:p.Arg150Ter
NM_006493.2:c.595C>T , LRG_692t1:c.595C>T (CLN5)	NP_006484.1:p.Arg199Ter
XM_011534917.1:c.595C>T (CLN5)	XP_011533219.1:p.Arg199Ter
NM_001366624.1:c.448C>T (CLN5)	NP_001353553.1:p.Arg150Ter
NM_006493.3:c.448C>T (CLN5)	NP_006484.2:p.Arg150Ter
XM_017020538.2:c.644-3059G>A (FBXL3)	XP_016876027.1:n.644-3059G>A
NM_001366624.2:c.448C>T (CLN5)	NP_001353553.1:p.Arg150Ter
NM_006493.4:c.448C>T (CLN5) MANE Select	NP_006484.2:p.Arg150Ter