Canonical Allele Identifier: CA2668197402
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150927897A>G , CM000665.2:g.150927897A>G GRCh38
NC_000003.11:g.150645684A>G , CM000665.1:g.150645684A>G GRCh37
NC_000003.10:g.152128374A>G NCBI36
NG_009168.1:g.50103T>C , LRG_700:g.50103T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.*39T>C MANE Select ENSP00000322280.1:n.*39T>C
ENST00000295911.6:c.342+168T>C ENSP00000295911.2:n.342+168T>C
ENST00000327047.5:c.*39T>C ENSP00000322280.1:n.*39T>C
ENST00000562308.5:c.104+13685T>C
ENST00000565169.1:c.162+13685T>C
ENST00000569170.5:c.162+13685T>C
NM_001195794.1:c.*39T>C , LRG_700t1:c.*39T>C NP_001182723.1:n.*39T>C
NM_001256819.1:c.*352T>C NP_001243748.1:n.*352T>C
NM_052995.2:c.342+168T>C , LRG_700t2:c.342+168T>C NP_443721.1:n.342+168T>C
NM_174878.2:c.*39T>C NP_777367.1:n.*39T>C
NR_046380.2:n.1219T>C
XR_924167.1:n.1050T>C
NM_001256819.2:c.*352T>C NP_001243748.1:n.*352T>C
NM_174878.3:c.*39T>C MANE Select NP_777367.1:n.*39T>C
NR_046380.3:n.947T>C