Canonical Allele Identifier: CA16041689

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 370765
• ClinVar RCV Id: RCV000411598 ; RCV003766127
• dbSNP Id: rs750935331
• MyVariant Identifiers: chr13:g.77574985C>T (hg19) ; chr13:g.77000850C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000850C>T , CM000675.2:g.77000850C>T	GRCh38
NC_000013.10:g.77574985C>T , CM000675.1:g.77574985C>T	GRCh37
NC_000013.9:g.76472986C>T	NCBI36
NG_009064.1:g.13927C>T , LRG_692:g.13927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.958C>T (CLN5) MANE Select	ENSP00000366673.5:p.Gln320Ter
ENST00000616833.6:c.*400C>T (CLN5)	ENSP00000479547.3:n.*400C>T
ENST00000635838.1:c.174+4723C>T
ENST00000635905.1:n.566+4723C>T (CLN5)
ENST00000635915.1:c.956C>T (CLN5)
ENST00000636183.2:c.958C>T (CLN5)	ENSP00000490181.2:p.Gln320Ter
ENST00000636525.2:c.565+4723C>T (CLN5)	ENSP00000490078.2:n.565+4723C>T
ENST00000636681.1:c.*649C>T (CLN5)	ENSP00000489922.1:n.*649C>T
ENST00000636705.1:c.794C>T (CLN5)
ENST00000636767.2:c.565+4723C>T (CLN5)	ENSP00000489855.2:n.565+4723C>T
ENST00000636780.2:c.*407C>T (CLN5)	ENSP00000489809.2:n.*407C>T
ENST00000637192.1:c.213+4723C>T
ENST00000637278.1:n.1284C>T (CLN5)
ENST00000637397.2:c.565+4723C>T (CLN5)	ENSP00000490422.2:n.565+4723C>T
ENST00000638101.1:c.169+4723C>T	ENSP00000490535.1:n.169+4723C>T
ENST00000638147.2:c.565+4723C>T	ENSP00000490953.2:n.565+4723C>T
ENST00000377453.7:c.1105C>T (CLN5)	ENSP00000366673.3:p.Gln369Ter
ENST00000477982.2:n.1459G>A (FBXL3)
ENST00000485797.2:n.174-7899G>A (FBXL3)
ENST00000616833.4:c.958C>T (CLN5)	ENSP00000479547.1:p.Gln320Ter
NM_006493.2:c.1105C>T , LRG_692t1:c.1105C>T (CLN5)	NP_006484.1:p.Gln369Ter
NM_001366624.1:c.*407C>T (CLN5)	NP_001353553.1:n.*407C>T
NM_006493.3:c.958C>T (CLN5)	NP_006484.2:p.Gln320Ter
XM_017020538.2:c.644-7899G>A (FBXL3)	XP_016876027.1:n.644-7899G>A
NM_001366624.2:c.*407C>T (CLN5)	NP_001353553.1:n.*407C>T
NM_006493.4:c.958C>T (CLN5) MANE Select	NP_006484.2:p.Gln320Ter