Canonical Allele Identifier: CA388312796

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 2079589
• ClinVar RCV Id: RCV002995489
• MyVariant Identifiers: chr13:g.77574772T>G (hg19) ; chr13:g.77000637T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000637T>G , CM000675.2:g.77000637T>G	GRCh38
NC_000013.10:g.77574772T>G , CM000675.1:g.77574772T>G	GRCh37
NC_000013.9:g.76472773T>G	NCBI36
NG_009064.1:g.13714T>G , LRG_692:g.13714T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.745T>G (CLN5) MANE Select	ENSP00000366673.5:p.Phe249Val
ENST00000616833.6:c.*187T>G (CLN5)	ENSP00000479547.3:n.*187T>G
ENST00000635838.1:c.174+4510T>G
ENST00000635905.1:n.566+4510T>G (CLN5)
ENST00000635915.1:c.743T>G (CLN5)
ENST00000636183.2:c.745T>G (CLN5)	ENSP00000490181.2:p.Phe249Val
ENST00000636525.2:c.565+4510T>G (CLN5)	ENSP00000490078.2:n.565+4510T>G
ENST00000636681.1:c.*436T>G (CLN5)	ENSP00000489922.1:n.*436T>G
ENST00000636705.1:c.581T>G (CLN5)
ENST00000636767.2:c.565+4510T>G (CLN5)	ENSP00000489855.2:n.565+4510T>G
ENST00000636780.2:c.*194T>G (CLN5)	ENSP00000489809.2:n.*194T>G
ENST00000637192.1:c.213+4510T>G
ENST00000637278.1:n.1071T>G (CLN5)
ENST00000637397.2:c.565+4510T>G (CLN5)	ENSP00000490422.2:n.565+4510T>G
ENST00000638101.1:c.169+4510T>G	ENSP00000490535.1:n.169+4510T>G
ENST00000638147.2:c.565+4510T>G	ENSP00000490953.2:n.565+4510T>G
ENST00000377453.7:c.892T>G (CLN5)	ENSP00000366673.3:p.Phe298Val
ENST00000477982.2:n.1672A>C (FBXL3)
ENST00000485797.2:n.174-7686A>C (FBXL3)
ENST00000616833.4:c.745T>G (CLN5)	ENSP00000479547.1:p.Phe249Val
NM_006493.2:c.892T>G , LRG_692t1:c.892T>G (CLN5)	NP_006484.1:p.Phe298Val
XM_011534917.1:c.*194T>G (CLN5)	XP_011533219.1:n.*194T>G
NM_001366624.1:c.*194T>G (CLN5)	NP_001353553.1:n.*194T>G
NM_006493.3:c.745T>G (CLN5)	NP_006484.2:p.Phe249Val
XM_017020538.2:c.644-7686A>C (FBXL3)	XP_016876027.1:n.644-7686A>C
NM_001366624.2:c.*194T>G (CLN5)	NP_001353553.1:n.*194T>G
NM_006493.4:c.745T>G (CLN5) MANE Select	NP_006484.2:p.Phe249Val