Canonical Allele Identifier: CA7007280

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs749490451
• ExAC: 13:77575022 T / C
• gnomAD v2: 13-77575022-T-C
• gnomAD v4: 13-77000887-T-C
• MyVariant Identifiers: chr13:g.77575022T>C (hg19) ; chr13:g.77000887T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000887T>C , CM000675.2:g.77000887T>C	GRCh38
NC_000013.10:g.77575022T>C , CM000675.1:g.77575022T>C	GRCh37
NC_000013.9:g.76473023T>C	NCBI36
NG_009064.1:g.13964T>C , LRG_692:g.13964T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.995T>C (CLN5) MANE Select	ENSP00000366673.5:p.Leu332Ser
ENST00000616833.6:c.*437T>C (CLN5)	ENSP00000479547.3:n.*437T>C
ENST00000635838.1:c.174+4760T>C
ENST00000635905.1:n.566+4760T>C (CLN5)
ENST00000635915.1:c.993T>C (CLN5)
ENST00000636183.2:c.995T>C (CLN5)	ENSP00000490181.2:p.Leu332Ser
ENST00000636525.2:c.565+4760T>C (CLN5)	ENSP00000490078.2:n.565+4760T>C
ENST00000636681.1:c.*686T>C (CLN5)	ENSP00000489922.1:n.*686T>C
ENST00000636705.1:c.831T>C (CLN5)
ENST00000636767.2:c.565+4760T>C (CLN5)	ENSP00000489855.2:n.565+4760T>C
ENST00000636780.2:c.*444T>C (CLN5)	ENSP00000489809.2:n.*444T>C
ENST00000637192.1:c.213+4760T>C
ENST00000637278.1:n.1321T>C (CLN5)
ENST00000637397.2:c.565+4760T>C (CLN5)	ENSP00000490422.2:n.565+4760T>C
ENST00000638101.1:c.169+4760T>C	ENSP00000490535.1:n.169+4760T>C
ENST00000638147.2:c.565+4760T>C	ENSP00000490953.2:n.565+4760T>C
ENST00000377453.7:c.1142T>C (CLN5)	ENSP00000366673.3:p.Leu381Ser
ENST00000477982.2:n.1422A>G (FBXL3)
ENST00000485797.2:n.174-7936A>G (FBXL3)
ENST00000616833.4:c.995T>C (CLN5)	ENSP00000479547.1:p.Leu332Ser
NM_006493.2:c.1142T>C , LRG_692t1:c.1142T>C (CLN5)	NP_006484.1:p.Leu381Ser
NM_001366624.1:c.*444T>C (CLN5)	NP_001353553.1:n.*444T>C
NM_006493.3:c.995T>C (CLN5)	NP_006484.2:p.Leu332Ser
XM_017020538.2:c.644-7936A>G (FBXL3)	XP_016876027.1:n.644-7936A>G
NM_001366624.2:c.*444T>C (CLN5)	NP_001353553.1:n.*444T>C
NM_006493.4:c.995T>C (CLN5) MANE Select	NP_006484.2:p.Leu332Ser