Canonical Allele Identifier: CA252177674

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 2172922
• ClinVar RCV Id: RCV002581650
• dbSNP Id: rs182060681
• MyVariant Identifiers: chr13:g.77574974T>G (hg19) ; chr13:g.77000839T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000839T>G , CM000675.2:g.77000839T>G	GRCh38
NC_000013.10:g.77574974T>G , CM000675.1:g.77574974T>G	GRCh37
NC_000013.9:g.76472975T>G	NCBI36
NG_009064.1:g.13916T>G , LRG_692:g.13916T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.947T>G (CLN5) MANE Select	ENSP00000366673.5:p.Ile316Ser
ENST00000616833.6:c.*389T>G (CLN5)	ENSP00000479547.3:n.*389T>G
ENST00000635838.1:c.174+4712T>G
ENST00000635905.1:n.566+4712T>G (CLN5)
ENST00000635915.1:c.945T>G (CLN5)
ENST00000636183.2:c.947T>G (CLN5)	ENSP00000490181.2:p.Ile316Ser
ENST00000636525.2:c.565+4712T>G (CLN5)	ENSP00000490078.2:n.565+4712T>G
ENST00000636681.1:c.*638T>G (CLN5)	ENSP00000489922.1:n.*638T>G
ENST00000636705.1:c.783T>G (CLN5)
ENST00000636767.2:c.565+4712T>G (CLN5)	ENSP00000489855.2:n.565+4712T>G
ENST00000636780.2:c.*396T>G (CLN5)	ENSP00000489809.2:n.*396T>G
ENST00000637192.1:c.213+4712T>G
ENST00000637278.1:n.1273T>G (CLN5)
ENST00000637397.2:c.565+4712T>G (CLN5)	ENSP00000490422.2:n.565+4712T>G
ENST00000638101.1:c.169+4712T>G	ENSP00000490535.1:n.169+4712T>G
ENST00000638147.2:c.565+4712T>G	ENSP00000490953.2:n.565+4712T>G
ENST00000377453.7:c.1094T>G (CLN5)	ENSP00000366673.3:p.Ile365Ser
ENST00000477982.2:n.1470A>C (FBXL3)
ENST00000485797.2:n.174-7888A>C (FBXL3)
ENST00000616833.4:c.947T>G (CLN5)	ENSP00000479547.1:p.Ile316Ser
NM_006493.2:c.1094T>G , LRG_692t1:c.1094T>G (CLN5)	NP_006484.1:p.Ile365Ser
NM_001366624.1:c.*396T>G (CLN5)	NP_001353553.1:n.*396T>G
NM_006493.3:c.947T>G (CLN5)	NP_006484.2:p.Ile316Ser
XM_017020538.2:c.644-7888A>C (FBXL3)	XP_016876027.1:n.644-7888A>C
NM_001366624.2:c.*396T>G (CLN5)	NP_001353553.1:n.*396T>G
NM_006493.4:c.947T>G (CLN5) MANE Select	NP_006484.2:p.Ile316Ser