Canonical Allele Identifier: CA354953053
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000327047.6:c.560C>A MANE Select ENSP00000322280.1:p.Thr187Asn
ENST00000468836.2:c.708C>A ENSP00000419892.2:n.708C>A
ENST00000295911.6:c.332C>A ENSP00000295911.2:p.Thr111Asn
ENST00000327047.5:c.560C>A ENSP00000322280.1:p.Thr187Asn
ENST00000328863.8:c.599C>A ENSP00000329158.4:p.Thr200Asn
ENST00000468836.1:c.332C>A ENSP00000419892.1:p.Thr111Asn
ENST00000562308.5:c.104+13507C>A
ENST00000565169.1:c.162+13507C>A
ENST00000569170.5:c.162+13507C>A
NM_001195794.1:c.599C>A , LRG_700t1:c.599C>A NP_001182723.1:p.Thr200Asn
NM_001256819.1:c.*174C>A NP_001243748.1:n.*174C>A
NM_052995.2:c.332C>A , LRG_700t2:c.332C>A NP_443721.1:p.Thr111Asn
NM_174878.2:c.560C>A NP_777367.1:p.Thr187Asn
NR_046380.2:n.1041C>A
XR_924167.1:n.872C>A
NM_001256819.2:c.*174C>A NP_001243748.1:n.*174C>A
NM_174878.3:c.560C>A MANE Select NP_777367.1:p.Thr187Asn
NR_046380.3:n.769C>A