Canonical Allele Identifier: CA1410883273
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928186A= , CM000665.2:g.150928186A= GRCh38
NC_000003.11:g.150645973A= , CM000665.1:g.150645973A= GRCh37
NC_000003.10:g.152128663A= NCBI36
NG_009168.1:g.49814T= , LRG_700:g.49814T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.449T= MANE Select ENSP00000322280.1:p.Leu150=
ENST00000468836.2:c.597T= ENSP00000419892.2:n.597T=
ENST00000295911.6:c.221T= ENSP00000295911.2:p.Leu74=
ENST00000327047.5:c.449T= ENSP00000322280.1:p.Leu150=
ENST00000328863.8:c.488T= ENSP00000329158.4:p.Leu163=
ENST00000468836.1:c.221T= ENSP00000419892.1:p.Leu74=
ENST00000485607.1:c.113T= ENSP00000419244.1:p.Leu38=
ENST00000562308.5:c.104+13396T=
ENST00000565169.1:c.162+13396T=
ENST00000569170.5:c.162+13396T=
NM_001195794.1:c.488T= , LRG_700t1:c.488T= NP_001182723.1:p.Leu163=
NM_001256819.1:c.*63T= NP_001243748.1:n.*63T=
NM_052995.2:c.221T= , LRG_700t2:c.221T= NP_443721.1:p.Leu74=
NM_174878.2:c.449T= NP_777367.1:p.Leu150=
NR_046380.2:n.930T=
XR_924167.1:n.761T=
NM_001256819.2:c.*63T= NP_001243748.1:n.*63T=
NM_174878.3:c.449T= MANE Select NP_777367.1:p.Leu150=
NR_046380.3:n.658T=