Canonical Allele Identifier: CA1410883233
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928088C= , CM000665.2:g.150928088C= GRCh38
NC_000003.11:g.150645875C= , CM000665.1:g.150645875C= GRCh37
NC_000003.10:g.152128565C= NCBI36
NG_009168.1:g.49912G= , LRG_700:g.49912G=

Transcript Alleles

HGVS Amino-acid change
ENST00000327047.6:c.547G= MANE Select ENSP00000322280.1:p.Glu183=
ENST00000468836.2:c.695G= ENSP00000419892.2:n.695G=
ENST00000295911.6:c.319G= ENSP00000295911.2:p.Glu107=
ENST00000327047.5:c.547G= ENSP00000322280.1:p.Glu183=
ENST00000328863.8:c.586G= ENSP00000329158.4:p.Glu196=
ENST00000468836.1:c.319G= ENSP00000419892.1:p.Glu107=
ENST00000562308.5:c.104+13494G=
ENST00000565169.1:c.162+13494G=
ENST00000569170.5:c.162+13494G=
NM_001195794.1:c.586G= , LRG_700t1:c.586G= NP_001182723.1:p.Glu196=
NM_001256819.1:c.*161G= NP_001243748.1:n.*161G=
NM_052995.2:c.319G= , LRG_700t2:c.319G= NP_443721.1:p.Glu107=
NM_174878.2:c.547G= NP_777367.1:p.Glu183=
NR_046380.2:n.1028G=
XR_924167.1:n.859G=
NM_001256819.2:c.*161G= NP_001243748.1:n.*161G=
NM_174878.3:c.547G= MANE Select NP_777367.1:p.Glu183=
NR_046380.3:n.756G=