Canonical Allele Identifier: CA388312765

Gene: CLN5 FBXL3

Linked Data

• MyVariant Identifiers: chr13:g.77574770A>T (hg19) ; chr13:g.77000635A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000635A>T , CM000675.2:g.77000635A>T	GRCh38
NC_000013.10:g.77574770A>T , CM000675.1:g.77574770A>T	GRCh37
NC_000013.9:g.76472771A>T	NCBI36
NG_009064.1:g.13712A>T , LRG_692:g.13712A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.743A>T (CLN5) MANE Select	ENSP00000366673.5:p.Glu248Val
ENST00000616833.6:c.*185A>T (CLN5)	ENSP00000479547.3:n.*185A>T
ENST00000635838.1:c.174+4508A>T
ENST00000635905.1:n.566+4508A>T (CLN5)
ENST00000635915.1:c.741A>T (CLN5)
ENST00000636183.2:c.743A>T (CLN5)	ENSP00000490181.2:p.Glu248Val
ENST00000636525.2:c.565+4508A>T (CLN5)	ENSP00000490078.2:n.565+4508A>T
ENST00000636681.1:c.*434A>T (CLN5)	ENSP00000489922.1:n.*434A>T
ENST00000636705.1:c.579A>T (CLN5)
ENST00000636767.2:c.565+4508A>T (CLN5)	ENSP00000489855.2:n.565+4508A>T
ENST00000636780.2:c.*192A>T (CLN5)	ENSP00000489809.2:n.*192A>T
ENST00000637192.1:c.213+4508A>T
ENST00000637278.1:n.1069A>T (CLN5)
ENST00000637397.2:c.565+4508A>T (CLN5)	ENSP00000490422.2:n.565+4508A>T
ENST00000638101.1:c.169+4508A>T	ENSP00000490535.1:n.169+4508A>T
ENST00000638147.2:c.565+4508A>T	ENSP00000490953.2:n.565+4508A>T
ENST00000377453.7:c.890A>T (CLN5)	ENSP00000366673.3:p.Glu297Val
ENST00000477982.2:n.1674T>A (FBXL3)
ENST00000485797.2:n.174-7684T>A (FBXL3)
ENST00000616833.4:c.743A>T (CLN5)	ENSP00000479547.1:p.Glu248Val
NM_006493.2:c.890A>T , LRG_692t1:c.890A>T (CLN5)	NP_006484.1:p.Glu297Val
XM_011534917.1:c.*192A>T (CLN5)	XP_011533219.1:n.*192A>T
NM_001366624.1:c.*192A>T (CLN5)	NP_001353553.1:n.*192A>T
NM_006493.3:c.743A>T (CLN5)	NP_006484.2:p.Glu248Val
XM_017020538.2:c.644-7684T>A (FBXL3)	XP_016876027.1:n.644-7684T>A
NM_001366624.2:c.*192A>T (CLN5)	NP_001353553.1:n.*192A>T
NM_006493.4:c.743A>T (CLN5) MANE Select	NP_006484.2:p.Glu248Val