Canonical Allele Identifier: CA1410883227
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928075G= , CM000665.2:g.150928075G= GRCh38
NC_000003.11:g.150645862G= , CM000665.1:g.150645862G= GRCh37
NC_000003.10:g.152128552G= NCBI36
NG_009168.1:g.49925C= , LRG_700:g.49925C=

Transcript Alleles

HGVS Amino-acid change
ENST00000327047.6:c.560C= MANE Select ENSP00000322280.1:p.Thr187=
ENST00000468836.2:c.708C= ENSP00000419892.2:n.708C=
ENST00000295911.6:c.332C= ENSP00000295911.2:p.Thr111=
ENST00000327047.5:c.560C= ENSP00000322280.1:p.Thr187=
ENST00000328863.8:c.599C= ENSP00000329158.4:p.Thr200=
ENST00000468836.1:c.332C= ENSP00000419892.1:p.Thr111=
ENST00000562308.5:c.104+13507C=
ENST00000565169.1:c.162+13507C=
ENST00000569170.5:c.162+13507C=
NM_001195794.1:c.599C= , LRG_700t1:c.599C= NP_001182723.1:p.Thr200=
NM_001256819.1:c.*174C= NP_001243748.1:n.*174C=
NM_052995.2:c.332C= , LRG_700t2:c.332C= NP_443721.1:p.Thr111=
NM_174878.2:c.560C= NP_777367.1:p.Thr187=
NR_046380.2:n.1041C=
XR_924167.1:n.872C=
NM_001256819.2:c.*174C= NP_001243748.1:n.*174C=
NM_174878.3:c.560C= MANE Select NP_777367.1:p.Thr187=
NR_046380.3:n.769C=