Canonical Allele Identifier: CA484486569

Linked Data

MyVariant Identifiers: chr13:g.77570198T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76996063T>C , CM000675.2:g.76996063T>C GRCh38
NC_000013.10:g.77570198T>C , CM000675.1:g.77570198T>C GRCh37
NC_000013.9:g.76468199T>C NCBI36
NG_009064.1:g.9140T>C , LRG_692:g.9140T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.501T>C (CLN5) MANE Select ENSP00000366673.5:p.Phe167=
ENST00000485938.4:c.501T>C (CLN5) ENSP00000482959.3:p.Phe167=
ENST00000616833.6:c.501T>C (CLN5) ENSP00000479547.3:p.Phe167=
ENST00000635838.1:c.110T>C
ENST00000635905.1:n.502T>C (CLN5)
ENST00000635915.1:c.499T>C (CLN5)
ENST00000635989.1:n.568T>C (CLN5)
ENST00000636183.2:c.501T>C (CLN5) ENSP00000490181.2:p.Phe167=
ENST00000636520.1:n.2013T>C (CLN5)
ENST00000636525.2:c.501T>C (CLN5) ENSP00000490078.2:p.Phe167=
ENST00000636602.1:n.447T>C (CLN5)
ENST00000636681.1:c.*192T>C (CLN5) ENSP00000489922.1:n.*192T>C
ENST00000636705.1:c.337T>C (CLN5)
ENST00000636767.2:c.501T>C (CLN5) ENSP00000489855.2:p.Phe167=
ENST00000636780.2:c.501T>C (CLN5) ENSP00000489809.2:p.Phe167=
ENST00000637192.1:c.149T>C
ENST00000637278.1:n.827T>C (CLN5)
ENST00000637397.2:c.501T>C (CLN5) ENSP00000490422.2:p.Phe167=
ENST00000637537.2:c.501T>C (CLN5) ENSP00000489711.2:p.Phe167=
ENST00000638101.1:c.105T>C ENSP00000490535.1:p.Phe35=
ENST00000638147.2:c.501T>C ENSP00000490953.2:p.Phe167=
ENST00000377453.7:c.648T>C (CLN5) ENSP00000366673.3:p.Phe216=
ENST00000485797.2:n.174-3112A>G (FBXL3)
ENST00000485938.2:c.484T>C (CLN5)
ENST00000616833.4:c.501T>C (CLN5) ENSP00000479547.1:p.Phe167=
NM_006493.2:c.648T>C , LRG_692t1:c.648T>C (CLN5) NP_006484.1:p.Phe216=
XM_011534917.1:c.648T>C (CLN5) XP_011533219.1:p.Phe216=
NM_001366624.1:c.501T>C (CLN5) NP_001353553.1:p.Phe167=
NM_006493.3:c.501T>C (CLN5) NP_006484.2:p.Phe167=
XM_017020538.2:c.644-3112A>G (FBXL3) XP_016876027.1:n.644-3112A>G
NM_001366624.2:c.501T>C (CLN5) NP_001353553.1:p.Phe167=
NM_006493.4:c.501T>C (CLN5) MANE Select NP_006484.2:p.Phe167=