Canonical Allele Identifier: CA1410883256
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928148G= , CM000665.2:g.150928148G= GRCh38
NC_000003.11:g.150645935G= , CM000665.1:g.150645935G= GRCh37
NC_000003.10:g.152128625G= NCBI36
NG_009168.1:g.49852C= , LRG_700:g.49852C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.487C= MANE Select ENSP00000322280.1:p.His163=
ENST00000468836.2:c.635C= ENSP00000419892.2:n.635C=
ENST00000295911.6:c.259C= ENSP00000295911.2:p.His87=
ENST00000327047.5:c.487C= ENSP00000322280.1:p.His163=
ENST00000328863.8:c.526C= ENSP00000329158.4:p.His176=
ENST00000468836.1:c.259C= ENSP00000419892.1:p.His87=
ENST00000562308.5:c.104+13434C=
ENST00000565169.1:c.162+13434C=
ENST00000569170.5:c.162+13434C=
NM_001195794.1:c.526C= , LRG_700t1:c.526C= NP_001182723.1:p.His176=
NM_001256819.1:c.*101C= NP_001243748.1:n.*101C=
NM_052995.2:c.259C= , LRG_700t2:c.259C= NP_443721.1:p.His87=
NM_174878.2:c.487C= NP_777367.1:p.His163=
NR_046380.2:n.968C=
XR_924167.1:n.799C=
NM_001256819.2:c.*101C= NP_001243748.1:n.*101C=
NM_174878.3:c.487C= MANE Select NP_777367.1:p.His163=
NR_046380.3:n.696C=