Canonical Allele Identifier: CA1410883194
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150927975G= , CM000665.2:g.150927975G= GRCh38
NC_000003.11:g.150645762G= , CM000665.1:g.150645762G= GRCh37
NC_000003.10:g.152128452G= NCBI36
NG_009168.1:g.50025C= , LRG_700:g.50025C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.660C= MANE Select ENSP00000322280.1:p.Asp220=
ENST00000295911.6:c.342+90C= ENSP00000295911.2:n.342+90C=
ENST00000327047.5:c.660C= ENSP00000322280.1:p.Asp220=
ENST00000328863.8:c.699C= ENSP00000329158.4:p.Asp233=
ENST00000562308.5:c.104+13607C=
ENST00000565169.1:c.162+13607C=
ENST00000569170.5:c.162+13607C=
NM_001195794.1:c.699C= , LRG_700t1:c.699C= NP_001182723.1:p.Asp233=
NM_001256819.1:c.*274C= NP_001243748.1:n.*274C=
NM_052995.2:c.342+90C= , LRG_700t2:c.342+90C= NP_443721.1:n.342+90C=
NM_174878.2:c.660C= NP_777367.1:p.Asp220=
NR_046380.2:n.1141C=
XR_924167.1:n.972C=
NM_001256819.2:c.*274C= NP_001243748.1:n.*274C=
NM_174878.3:c.660C= MANE Select NP_777367.1:p.Asp220=
NR_046380.3:n.869C=