Canonical Allele Identifier: CA388314403

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77000842-T-C
• MyVariant Identifiers: chr13:g.77574977T>C (hg19) ; chr13:g.77000842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000842T>C , CM000675.2:g.77000842T>C	GRCh38
NC_000013.10:g.77574977T>C , CM000675.1:g.77574977T>C	GRCh37
NC_000013.9:g.76472978T>C	NCBI36
NG_009064.1:g.13919T>C , LRG_692:g.13919T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.950T>C (CLN5) MANE Select	ENSP00000366673.5:p.Val317Ala
ENST00000616833.6:c.*392T>C (CLN5)	ENSP00000479547.3:n.*392T>C
ENST00000635838.1:c.174+4715T>C
ENST00000635905.1:n.566+4715T>C (CLN5)
ENST00000635915.1:c.948T>C (CLN5)
ENST00000636183.2:c.950T>C (CLN5)	ENSP00000490181.2:p.Val317Ala
ENST00000636525.2:c.565+4715T>C (CLN5)	ENSP00000490078.2:n.565+4715T>C
ENST00000636681.1:c.*641T>C (CLN5)	ENSP00000489922.1:n.*641T>C
ENST00000636705.1:c.786T>C (CLN5)
ENST00000636767.2:c.565+4715T>C (CLN5)	ENSP00000489855.2:n.565+4715T>C
ENST00000636780.2:c.*399T>C (CLN5)	ENSP00000489809.2:n.*399T>C
ENST00000637192.1:c.213+4715T>C
ENST00000637278.1:n.1276T>C (CLN5)
ENST00000637397.2:c.565+4715T>C (CLN5)	ENSP00000490422.2:n.565+4715T>C
ENST00000638101.1:c.169+4715T>C	ENSP00000490535.1:n.169+4715T>C
ENST00000638147.2:c.565+4715T>C	ENSP00000490953.2:n.565+4715T>C
ENST00000377453.7:c.1097T>C (CLN5)	ENSP00000366673.3:p.Val366Ala
ENST00000477982.2:n.1467A>G (FBXL3)
ENST00000485797.2:n.174-7891A>G (FBXL3)
ENST00000616833.4:c.950T>C (CLN5)	ENSP00000479547.1:p.Val317Ala
NM_006493.2:c.1097T>C , LRG_692t1:c.1097T>C (CLN5)	NP_006484.1:p.Val366Ala
NM_001366624.1:c.*399T>C (CLN5)	NP_001353553.1:n.*399T>C
NM_006493.3:c.950T>C (CLN5)	NP_006484.2:p.Val317Ala
XM_017020538.2:c.644-7891A>G (FBXL3)	XP_016876027.1:n.644-7891A>G
NM_001366624.2:c.*399T>C (CLN5)	NP_001353553.1:n.*399T>C
NM_006493.4:c.950T>C (CLN5) MANE Select	NP_006484.2:p.Val317Ala