Canonical Allele Identifier: CA611398065

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 1965231
• ClinVar RCV Id: RCV002726653
• dbSNP Id: rs1365855034
• gnomAD v2: 13-77570279-T-C
• gnomAD v3: 13-76996144-T-C
• gnomAD v4: 13-76996144-T-C
• MyVariant Identifiers: chr13:g.77570279T>C (hg19) ; chr13:g.76996144T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996144T>C , CM000675.2:g.76996144T>C	GRCh38
NC_000013.10:g.77570279T>C , CM000675.1:g.77570279T>C	GRCh37
NC_000013.9:g.76468280T>C	NCBI36
NG_009064.1:g.9221T>C , LRG_692:g.9221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.565+17T>C (CLN5) MANE Select	ENSP00000366673.5:n.565+17T>C
ENST00000485938.4:c.*6T>C (CLN5)	ENSP00000482959.3:n.*6T>C
ENST00000616833.6:c.565+17T>C (CLN5)	ENSP00000479547.3:n.565+17T>C
ENST00000635838.1:c.174+17T>C
ENST00000635905.1:n.566+17T>C (CLN5)
ENST00000635915.1:c.563+17T>C (CLN5)
ENST00000636183.2:c.565+17T>C (CLN5)	ENSP00000490181.2:n.565+17T>C
ENST00000636520.1:n.2094T>C (CLN5)
ENST00000636525.2:c.565+17T>C (CLN5)	ENSP00000490078.2:n.565+17T>C
ENST00000636602.1:n.528T>C (CLN5)
ENST00000636681.1:c.*256+17T>C (CLN5)	ENSP00000489922.1:n.*256+17T>C
ENST00000636705.1:c.401+17T>C (CLN5)
ENST00000636767.2:c.565+17T>C (CLN5)	ENSP00000489855.2:n.565+17T>C
ENST00000636780.2:c.565+17T>C (CLN5)	ENSP00000489809.2:n.565+17T>C
ENST00000637192.1:c.213+17T>C
ENST00000637278.1:n.891+17T>C (CLN5)
ENST00000637397.2:c.565+17T>C (CLN5)	ENSP00000490422.2:n.565+17T>C
ENST00000637537.2:c.565+17T>C (CLN5)	ENSP00000489711.2:n.565+17T>C
ENST00000638101.1:c.169+17T>C	ENSP00000490535.1:n.169+17T>C
ENST00000638147.2:c.565+17T>C	ENSP00000490953.2:n.565+17T>C
ENST00000377453.7:c.712+17T>C (CLN5)	ENSP00000366673.3:n.712+17T>C
ENST00000485797.2:n.174-3193A>G (FBXL3)
ENST00000485938.2:c.565T>C (CLN5)
ENST00000616833.4:c.565+17T>C (CLN5)	ENSP00000479547.1:n.565+17T>C
NM_006493.2:c.712+17T>C , LRG_692t1:c.712+17T>C (CLN5)	NP_006484.1:n.712+17T>C
XM_011534917.1:c.712+17T>C (CLN5)	XP_011533219.1:n.712+17T>C
NM_001366624.1:c.565+17T>C (CLN5)	NP_001353553.1:n.565+17T>C
NM_006493.3:c.565+17T>C (CLN5)	NP_006484.2:n.565+17T>C
XM_017020538.2:c.644-3193A>G (FBXL3)	XP_016876027.1:n.644-3193A>G
NM_001366624.2:c.565+17T>C (CLN5)	NP_001353553.1:n.565+17T>C
NM_006493.4:c.565+17T>C (CLN5) MANE Select	NP_006484.2:n.565+17T>C