Canonical Allele Identifier: CA388308856

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 1425365
• ClinVar RCV Id: RCV001926582
• dbSNP Id: rs2154034716
• MyVariant Identifiers: chr13:g.77570101G>A (hg19) ; chr13:g.76995966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995966G>A , CM000675.2:g.76995966G>A	GRCh38
NC_000013.10:g.77570101G>A , CM000675.1:g.77570101G>A	GRCh37
NC_000013.9:g.76468102G>A	NCBI36
NG_009064.1:g.9043G>A , LRG_692:g.9043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.404G>A (CLN5) MANE Select	ENSP00000366673.5:p.Trp135Ter
ENST00000485938.4:c.404G>A (CLN5)	ENSP00000482959.3:p.Trp135Ter
ENST00000616833.6:c.404G>A (CLN5)	ENSP00000479547.3:p.Trp135Ter
ENST00000635838.1:c.13G>A
ENST00000635905.1:n.405G>A (CLN5)
ENST00000635915.1:c.402G>A (CLN5)
ENST00000635989.1:n.471G>A (CLN5)
ENST00000636183.2:c.404G>A (CLN5)	ENSP00000490181.2:p.Trp135Ter
ENST00000636520.1:n.1916G>A (CLN5)
ENST00000636525.2:c.404G>A (CLN5)	ENSP00000490078.2:p.Trp135Ter
ENST00000636602.1:n.350G>A (CLN5)
ENST00000636681.1:c.*95G>A (CLN5)	ENSP00000489922.1:n.*95G>A
ENST00000636705.1:c.240G>A (CLN5)
ENST00000636767.2:c.404G>A (CLN5)	ENSP00000489855.2:p.Trp135Ter
ENST00000636780.2:c.404G>A (CLN5)	ENSP00000489809.2:p.Trp135Ter
ENST00000637192.1:c.52G>A
ENST00000637278.1:n.730G>A (CLN5)
ENST00000637397.2:c.404G>A (CLN5)	ENSP00000490422.2:p.Trp135Ter
ENST00000637537.2:c.404G>A (CLN5)	ENSP00000489711.2:p.Trp135Ter
ENST00000638101.1:c.8G>A	ENSP00000490535.1:p.Trp3Ter
ENST00000638147.2:c.404G>A	ENSP00000490953.2:p.Trp135Ter
ENST00000377453.7:c.551G>A (CLN5)	ENSP00000366673.3:p.Trp184Ter
ENST00000485797.2:n.174-3015C>T (FBXL3)
ENST00000485938.2:c.387G>A (CLN5)
ENST00000616833.4:c.404G>A (CLN5)	ENSP00000479547.1:p.Trp135Ter
NM_006493.2:c.551G>A , LRG_692t1:c.551G>A (CLN5)	NP_006484.1:p.Trp184Ter
XM_011534917.1:c.551G>A (CLN5)	XP_011533219.1:p.Trp184Ter
NM_001366624.1:c.404G>A (CLN5)	NP_001353553.1:p.Trp135Ter
NM_006493.3:c.404G>A (CLN5)	NP_006484.2:p.Trp135Ter
XM_017020538.2:c.644-3015C>T (FBXL3)	XP_016876027.1:n.644-3015C>T
NM_001366624.2:c.404G>A (CLN5)	NP_001353553.1:p.Trp135Ter
NM_006493.4:c.404G>A (CLN5) MANE Select	NP_006484.2:p.Trp135Ter