Canonical Allele Identifier: CA1410883207
Community Standard Title: NM_174878.3(CLRN1):c.619C= (p.Arg207=)
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928016G= , CM000665.2:g.150928016G= GRCh38
NC_000003.11:g.150645803G= , CM000665.1:g.150645803G= GRCh37
NC_000003.10:g.152128493G= NCBI36
NG_009168.1:g.49984C= , LRG_700:g.49984C=

Transcript Alleles

HGVS Amino-acid Change
NM_174878.3:c.619C= MANE Select NP_777367.1:p.Arg207=
ENST00000327047.6:c.619C= MANE Select ENSP00000322280.1:p.Arg207=
NM_001195794.1:c.658C= , LRG_700t1:c.658C= NP_001182723.1:p.Arg220=
NM_001256819.1:c.*233C= NP_001243748.1:n.*233C=
NM_001256819.2:c.*233C= NP_001243748.1:n.*233C=
NM_052995.2:c.342+49C= , LRG_700t2:c.342+49C= NP_443721.1:n.342+49C=
NM_174878.2:c.619C= NP_777367.1:p.Arg207=
NR_046380.2:n.1100C=
NR_046380.3:n.828C=
ENST00000295911.6:c.342+49C= ENSP00000295911.2:n.342+49C=
ENST00000327047.5:c.619C= ENSP00000322280.1:p.Arg207=
ENST00000328863.8:c.658C= ENSP00000329158.4:p.Arg220=
ENST00000562308.5:c.104+13566C=
ENST00000565169.1:c.162+13566C=
ENST00000569170.5:c.162+13566C=
XR_924167.1:n.931C=