Canonical Allele Identifier: CA354955379
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150941603A>T , CM000665.2:g.150941603A>T GRCh38
NC_000003.11:g.150659390A>T , CM000665.1:g.150659390A>T GRCh37
NC_000003.10:g.152142080A>T NCBI36
NG_009168.1:g.36397T>A , LRG_700:g.36397T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.412T>A MANE Select ENSP00000322280.1:p.Tyr138Asn
ENST00000468836.2:c.560T>A ENSP00000419892.2:n.560T>A
ENST00000644099.1:c.404T>A ENSP00000494762.1:n.404T>A
ENST00000295911.6:c.184T>A ENSP00000295911.2:p.Tyr62Asn
ENST00000327047.5:c.412T>A ENSP00000322280.1:p.Tyr138Asn
ENST00000328863.8:c.412T>A ENSP00000329158.4:p.Tyr138Asn
ENST00000468836.1:c.184T>A ENSP00000419892.1:p.Tyr62Asn
ENST00000472224.1:n.418T>A
ENST00000485607.1:c.76T>A ENSP00000419244.1:p.Tyr26Asn
ENST00000562308.5:c.83T>A
ENST00000565169.1:c.141T>A
ENST00000569170.5:c.141T>A
NM_001195794.1:c.412T>A , LRG_700t1:c.412T>A NP_001182723.1:p.Tyr138Asn
NM_001256819.1:c.*26T>A NP_001243748.1:n.*26T>A
NM_052995.2:c.184T>A , LRG_700t2:c.184T>A NP_443721.1:p.Tyr62Asn
NM_174878.2:c.412T>A NP_777367.1:p.Tyr138Asn
NR_046380.2:n.854T>A
XR_924167.1:n.724T>A
NM_001256819.2:c.*26T>A NP_001243748.1:n.*26T>A
NM_174878.3:c.412T>A MANE Select NP_777367.1:p.Tyr138Asn
NR_046380.3:n.582T>A