Canonical Allele Identifier: CA1410883274
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928188A= , CM000665.2:g.150928188A= GRCh38
NC_000003.11:g.150645975A= , CM000665.1:g.150645975A= GRCh37
NC_000003.10:g.152128665A= NCBI36
NG_009168.1:g.49812T= , LRG_700:g.49812T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.447T= MANE Select ENSP00000322280.1:p.Cys149=
ENST00000468836.2:c.595T= ENSP00000419892.2:n.595T=
ENST00000295911.6:c.219T= ENSP00000295911.2:p.Cys73=
ENST00000327047.5:c.447T= ENSP00000322280.1:p.Cys149=
ENST00000328863.8:c.486T= ENSP00000329158.4:p.Cys162=
ENST00000468836.1:c.219T= ENSP00000419892.1:p.Cys73=
ENST00000485607.1:c.111T= ENSP00000419244.1:p.Cys37=
ENST00000562308.5:c.104+13394T=
ENST00000565169.1:c.162+13394T=
ENST00000569170.5:c.162+13394T=
NM_001195794.1:c.486T= , LRG_700t1:c.486T= NP_001182723.1:p.Cys162=
NM_001256819.1:c.*61T= NP_001243748.1:n.*61T=
NM_052995.2:c.219T= , LRG_700t2:c.219T= NP_443721.1:p.Cys73=
NM_174878.2:c.447T= NP_777367.1:p.Cys149=
NR_046380.2:n.928T=
XR_924167.1:n.759T=
NM_001256819.2:c.*61T= NP_001243748.1:n.*61T=
NM_174878.3:c.447T= MANE Select NP_777367.1:p.Cys149=
NR_046380.3:n.656T=