Canonical Allele Identifier: CA354955864
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150941699C>T , CM000665.2:g.150941699C>T GRCh38
NC_000003.11:g.150659486C>T , CM000665.1:g.150659486C>T GRCh37
NC_000003.10:g.152142176C>T NCBI36
NG_009168.1:g.36301G>A , LRG_700:g.36301G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.316G>A MANE Select ENSP00000322280.1:p.Ala106Thr
ENST00000468836.2:c.464G>A ENSP00000419892.2:p.Cys155Tyr
ENST00000644099.1:c.308G>A ENSP00000494762.1:n.308G>A
ENST00000295911.6:c.88G>A ENSP00000295911.2:p.Ala30Thr
ENST00000327047.5:c.316G>A ENSP00000322280.1:p.Ala106Thr
ENST00000328863.8:c.316G>A ENSP00000329158.4:p.Ala106Thr
ENST00000468836.1:c.88G>A ENSP00000419892.1:p.Ala30Thr
ENST00000472224.1:n.322G>A
ENST00000485607.1:c.-21G>A ENSP00000419244.1:n.-21G>A
ENST00000565169.1:c.45G>A
ENST00000569170.5:c.45G>A
NM_001195794.1:c.316G>A , LRG_700t1:c.316G>A NP_001182723.1:p.Ala106Thr
NM_001256819.1:c.488G>A NP_001243748.1:p.Cys163Tyr
NM_052995.2:c.88G>A , LRG_700t2:c.88G>A NP_443721.1:p.Ala30Thr
NM_174878.2:c.316G>A NP_777367.1:p.Ala106Thr
NR_046380.2:n.758G>A
XR_924167.1:n.628G>A
NM_001256819.2:c.488G>A NP_001243748.1:p.Cys163Tyr
NM_174878.3:c.316G>A MANE Select NP_777367.1:p.Ala106Thr
NR_046380.3:n.486G>A