Canonical Allele Identifier: CA1410883266
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928174A= , CM000665.2:g.150928174A= GRCh38
NC_000003.11:g.150645961A= , CM000665.1:g.150645961A= GRCh37
NC_000003.10:g.152128651A= NCBI36
NG_009168.1:g.49826T= , LRG_700:g.49826T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.461T= MANE Select ENSP00000322280.1:p.Leu154=
ENST00000468836.2:c.609T= ENSP00000419892.2:n.609T=
ENST00000295911.6:c.233T= ENSP00000295911.2:p.Leu78=
ENST00000327047.5:c.461T= ENSP00000322280.1:p.Leu154=
ENST00000328863.8:c.500T= ENSP00000329158.4:p.Leu167=
ENST00000468836.1:c.233T= ENSP00000419892.1:p.Leu78=
ENST00000562308.5:c.104+13408T=
ENST00000565169.1:c.162+13408T=
ENST00000569170.5:c.162+13408T=
NM_001195794.1:c.500T= , LRG_700t1:c.500T= NP_001182723.1:p.Leu167=
NM_001256819.1:c.*75T= NP_001243748.1:n.*75T=
NM_052995.2:c.233T= , LRG_700t2:c.233T= NP_443721.1:p.Leu78=
NM_174878.2:c.461T= NP_777367.1:p.Leu154=
NR_046380.2:n.942T=
XR_924167.1:n.773T=
NM_001256819.2:c.*75T= NP_001243748.1:n.*75T=
NM_174878.3:c.461T= MANE Select NP_777367.1:p.Leu154=
NR_046380.3:n.670T=