Canonical Allele Identifier: CA354955322
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150941594T>G , CM000665.2:g.150941594T>G GRCh38
NC_000003.11:g.150659381T>G , CM000665.1:g.150659381T>G GRCh37
NC_000003.10:g.152142071T>G NCBI36
NG_009168.1:g.36406A>C , LRG_700:g.36406A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.421A>C MANE Select ENSP00000322280.1:p.Ser141Arg
ENST00000468836.2:c.569A>C ENSP00000419892.2:n.569A>C
ENST00000644099.1:c.413A>C ENSP00000494762.1:n.413A>C
ENST00000295911.6:c.193A>C ENSP00000295911.2:p.Ser65Arg
ENST00000327047.5:c.421A>C ENSP00000322280.1:p.Ser141Arg
ENST00000328863.8:c.421A>C ENSP00000329158.4:p.Ser141Arg
ENST00000468836.1:c.193A>C ENSP00000419892.1:p.Ser65Arg
ENST00000472224.1:n.427A>C
ENST00000485607.1:c.85A>C ENSP00000419244.1:p.Ser29Arg
ENST00000562308.5:c.92A>C
ENST00000565169.1:c.150A>C
ENST00000569170.5:c.150A>C
NM_001195794.1:c.421A>C , LRG_700t1:c.421A>C NP_001182723.1:p.Ser141Arg
NM_001256819.1:c.*35A>C NP_001243748.1:n.*35A>C
NM_052995.2:c.193A>C , LRG_700t2:c.193A>C NP_443721.1:p.Ser65Arg
NM_174878.2:c.421A>C NP_777367.1:p.Ser141Arg
NR_046380.2:n.863A>C
XR_924167.1:n.733A>C
NM_001256819.2:c.*35A>C NP_001243748.1:n.*35A>C
NM_174878.3:c.421A>C MANE Select NP_777367.1:p.Ser141Arg
NR_046380.3:n.591A>C