Canonical Allele Identifier: CA388308676

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 2892899
• ClinVar RCV Id: RCV003648823
• gnomAD v4: 13-76995921-T-C
• MyVariant Identifiers: chr13:g.77570056T>C (hg19) ; chr13:g.76995921T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995921T>C , CM000675.2:g.76995921T>C	GRCh38
NC_000013.10:g.77570056T>C , CM000675.1:g.77570056T>C	GRCh37
NC_000013.9:g.76468057T>C	NCBI36
NG_009064.1:g.8998T>C , LRG_692:g.8998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.359T>C (CLN5) MANE Select	ENSP00000366673.5:p.Ile120Thr
ENST00000485938.4:c.359T>C (CLN5)	ENSP00000482959.3:p.Ile120Thr
ENST00000616833.6:c.359T>C (CLN5)	ENSP00000479547.3:p.Ile120Thr
ENST00000635905.1:n.360T>C (CLN5)
ENST00000635915.1:c.357T>C (CLN5)
ENST00000635989.1:n.426T>C (CLN5)
ENST00000636183.2:c.359T>C (CLN5)	ENSP00000490181.2:p.Ile120Thr
ENST00000636520.1:n.1871T>C (CLN5)
ENST00000636525.2:c.359T>C (CLN5)	ENSP00000490078.2:p.Ile120Thr
ENST00000636602.1:n.305T>C (CLN5)
ENST00000636681.1:c.*50T>C (CLN5)	ENSP00000489922.1:n.*50T>C
ENST00000636705.1:c.195T>C (CLN5)
ENST00000636767.2:c.359T>C (CLN5)	ENSP00000489855.2:p.Ile120Thr
ENST00000636780.2:c.359T>C (CLN5)	ENSP00000489809.2:p.Ile120Thr
ENST00000637192.1:c.7T>C
ENST00000637278.1:n.685T>C (CLN5)
ENST00000637397.2:c.359T>C (CLN5)	ENSP00000490422.2:p.Ile120Thr
ENST00000637537.2:c.359T>C (CLN5)	ENSP00000489711.2:p.Ile120Thr
ENST00000638147.2:c.359T>C	ENSP00000490953.2:p.Ile120Thr
ENST00000377453.7:c.506T>C (CLN5)	ENSP00000366673.3:p.Ile169Thr
ENST00000485797.2:n.174-2970A>G (FBXL3)
ENST00000485938.2:c.342T>C (CLN5)
ENST00000616833.4:c.359T>C (CLN5)	ENSP00000479547.1:p.Ile120Thr
NM_006493.2:c.506T>C , LRG_692t1:c.506T>C (CLN5)	NP_006484.1:p.Ile169Thr
XM_011534917.1:c.506T>C (CLN5)	XP_011533219.1:p.Ile169Thr
NM_001366624.1:c.359T>C (CLN5)	NP_001353553.1:p.Ile120Thr
NM_006493.3:c.359T>C (CLN5)	NP_006484.2:p.Ile120Thr
XM_017020538.2:c.644-2970A>G (FBXL3)	XP_016876027.1:n.644-2970A>G
NM_001366624.2:c.359T>C (CLN5)	NP_001353553.1:p.Ile120Thr
NM_006493.4:c.359T>C (CLN5) MANE Select	NP_006484.2:p.Ile120Thr