Canonical Allele Identifier: CA388308673

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 966545
• ClinVar RCV Id: RCV001241255
• dbSNP Id: rs1231886495
• gnomAD v4: 13-76995920-A-G
• MyVariant Identifiers: chr13:g.77570055A>G (hg19) ; chr13:g.76995920A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995920A>G , CM000675.2:g.76995920A>G	GRCh38
NC_000013.10:g.77570055A>G , CM000675.1:g.77570055A>G	GRCh37
NC_000013.9:g.76468056A>G	NCBI36
NG_009064.1:g.8997A>G , LRG_692:g.8997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.358A>G (CLN5) MANE Select	ENSP00000366673.5:p.Ile120Val
ENST00000485938.4:c.358A>G (CLN5)	ENSP00000482959.3:p.Ile120Val
ENST00000616833.6:c.358A>G (CLN5)	ENSP00000479547.3:p.Ile120Val
ENST00000635905.1:n.359A>G (CLN5)
ENST00000635915.1:c.356A>G (CLN5)
ENST00000635989.1:n.425A>G (CLN5)
ENST00000636183.2:c.358A>G (CLN5)	ENSP00000490181.2:p.Ile120Val
ENST00000636520.1:n.1870A>G (CLN5)
ENST00000636525.2:c.358A>G (CLN5)	ENSP00000490078.2:p.Ile120Val
ENST00000636602.1:n.304A>G (CLN5)
ENST00000636681.1:c.*49A>G (CLN5)	ENSP00000489922.1:n.*49A>G
ENST00000636705.1:c.194A>G (CLN5)
ENST00000636767.2:c.358A>G (CLN5)	ENSP00000489855.2:p.Ile120Val
ENST00000636780.2:c.358A>G (CLN5)	ENSP00000489809.2:p.Ile120Val
ENST00000637192.1:c.6A>G
ENST00000637278.1:n.684A>G (CLN5)
ENST00000637397.2:c.358A>G (CLN5)	ENSP00000490422.2:p.Ile120Val
ENST00000637537.2:c.358A>G (CLN5)	ENSP00000489711.2:p.Ile120Val
ENST00000638147.2:c.358A>G	ENSP00000490953.2:p.Ile120Val
ENST00000377453.7:c.505A>G (CLN5)	ENSP00000366673.3:p.Ile169Val
ENST00000485797.2:n.174-2969T>C (FBXL3)
ENST00000485938.2:c.341A>G (CLN5)
ENST00000616833.4:c.358A>G (CLN5)	ENSP00000479547.1:p.Ile120Val
NM_006493.2:c.505A>G , LRG_692t1:c.505A>G (CLN5)	NP_006484.1:p.Ile169Val
XM_011534917.1:c.505A>G (CLN5)	XP_011533219.1:p.Ile169Val
NM_001366624.1:c.358A>G (CLN5)	NP_001353553.1:p.Ile120Val
NM_006493.3:c.358A>G (CLN5)	NP_006484.2:p.Ile120Val
XM_017020538.2:c.644-2969T>C (FBXL3)	XP_016876027.1:n.644-2969T>C
NM_001366624.2:c.358A>G (CLN5)	NP_001353553.1:p.Ile120Val
NM_006493.4:c.358A>G (CLN5) MANE Select	NP_006484.2:p.Ile120Val