Canonical Allele Identifier: CA263891

Linked Data

ClinVar Variation Id: 56536
dbSNP Id: rs386833972

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76995939T>G , CM000675.2:g.76995939T>G GRCh38
NC_000013.10:g.77570074T>G , CM000675.1:g.77570074T>G GRCh37
NC_000013.9:g.76468075T>G NCBI36
NG_009064.1:g.9016T>G , LRG_692:g.9016T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.377T>G (CLN5) MANE Select ENSP00000366673.5:p.Leu126Ter
ENST00000485938.4:c.377T>G (CLN5) ENSP00000482959.3:p.Leu126Ter
ENST00000616833.6:c.377T>G (CLN5) ENSP00000479547.3:p.Leu126Ter
ENST00000635905.1:n.378T>G (CLN5)
ENST00000635915.1:c.375T>G (CLN5)
ENST00000635989.1:n.444T>G (CLN5)
ENST00000636183.2:c.377T>G (CLN5) ENSP00000490181.2:p.Leu126Ter
ENST00000636520.1:n.1889T>G (CLN5)
ENST00000636525.2:c.377T>G (CLN5) ENSP00000490078.2:p.Leu126Ter
ENST00000636602.1:n.323T>G (CLN5)
ENST00000636681.1:c.*68T>G (CLN5) ENSP00000489922.1:n.*68T>G
ENST00000636705.1:c.213T>G (CLN5)
ENST00000636767.2:c.377T>G (CLN5) ENSP00000489855.2:p.Leu126Ter
ENST00000636780.2:c.377T>G (CLN5) ENSP00000489809.2:p.Leu126Ter
ENST00000637192.1:c.25T>G
ENST00000637278.1:n.703T>G (CLN5)
ENST00000637397.2:c.377T>G (CLN5) ENSP00000490422.2:p.Leu126Ter
ENST00000637537.2:c.377T>G (CLN5) ENSP00000489711.2:p.Leu126Ter
ENST00000638147.2:c.377T>G ENSP00000490953.2:p.Leu126Ter
ENST00000377453.7:c.524T>G (CLN5) ENSP00000366673.3:p.Leu175Ter
ENST00000485797.2:n.174-2988A>C (FBXL3)
ENST00000485938.2:c.360T>G (CLN5)
ENST00000616833.4:c.377T>G (CLN5) ENSP00000479547.1:p.Leu126Ter
NM_006493.2:c.524T>G , LRG_692t1:c.524T>G (CLN5) NP_006484.1:p.Leu175Ter
XM_011534917.1:c.524T>G (CLN5) XP_011533219.1:p.Leu175Ter
NM_001366624.1:c.377T>G (CLN5) NP_001353553.1:p.Leu126Ter
NM_006493.3:c.377T>G (CLN5) NP_006484.2:p.Leu126Ter
XM_017020538.2:c.644-2988A>C (FBXL3) XP_016876027.1:n.644-2988A>C
NM_001366624.2:c.377T>G (CLN5) NP_001353553.1:p.Leu126Ter
NM_006493.4:c.377T>G (CLN5) MANE Select NP_006484.2:p.Leu126Ter