Canonical Allele Identifier: CA354953067
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928081T>G , CM000665.2:g.150928081T>G GRCh38
NC_000003.11:g.150645868T>G , CM000665.1:g.150645868T>G GRCh37
NC_000003.10:g.152128558T>G NCBI36
NG_009168.1:g.49919A>C , LRG_700:g.49919A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327047.6:c.554A>C MANE Select ENSP00000322280.1:p.Tyr185Ser
ENST00000468836.2:c.702A>C ENSP00000419892.2:n.702A>C
ENST00000295911.6:c.326A>C ENSP00000295911.2:p.Tyr109Ser
ENST00000327047.5:c.554A>C ENSP00000322280.1:p.Tyr185Ser
ENST00000328863.8:c.593A>C ENSP00000329158.4:p.Tyr198Ser
ENST00000468836.1:c.326A>C ENSP00000419892.1:p.Tyr109Ser
ENST00000562308.5:c.104+13501A>C
ENST00000565169.1:c.162+13501A>C
ENST00000569170.5:c.162+13501A>C
NM_001195794.1:c.593A>C , LRG_700t1:c.593A>C NP_001182723.1:p.Tyr198Ser
NM_001256819.1:c.*168A>C NP_001243748.1:n.*168A>C
NM_052995.2:c.326A>C , LRG_700t2:c.326A>C NP_443721.1:p.Tyr109Ser
NM_174878.2:c.554A>C NP_777367.1:p.Tyr185Ser
NR_046380.2:n.1035A>C
XR_924167.1:n.866A>C
NM_001256819.2:c.*168A>C NP_001243748.1:n.*168A>C
NM_174878.3:c.554A>C MANE Select NP_777367.1:p.Tyr185Ser
NR_046380.3:n.763A>C