Canonical Allele Identifier: CA2668196855
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150926642G>T , CM000665.2:g.150926642G>T GRCh38
NC_000003.11:g.150644429G>T , CM000665.1:g.150644429G>T GRCh37
NC_000003.10:g.152127119G>T NCBI36
NG_009168.1:g.51358C>A , LRG_700:g.51358C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.*1294C>A MANE Select ENSP00000322280.1:n.*1294C>A
ENST00000295911.6:c.*210C>A ENSP00000295911.2:n.*210C>A
ENST00000327047.5:c.*1294C>A ENSP00000322280.1:n.*1294C>A
ENST00000562308.5:c.104+14940C>A
ENST00000565169.1:c.162+14940C>A
ENST00000569170.5:c.162+14940C>A
NM_001195794.1:c.*1294C>A , LRG_700t1:c.*1294C>A NP_001182723.1:n.*1294C>A
NM_001256819.1:c.*1607C>A NP_001243748.1:n.*1607C>A
NM_052995.2:c.*210C>A , LRG_700t2:c.*210C>A NP_443721.1:n.*210C>A
NM_174878.2:c.*1294C>A NP_777367.1:n.*1294C>A
NR_046380.2:n.2474C>A
XR_924167.1:n.2305C>A
NM_001256819.2:c.*1607C>A NP_001243748.1:n.*1607C>A
NM_174878.3:c.*1294C>A MANE Select NP_777367.1:n.*1294C>A
NR_046380.3:n.2202C>A