Canonical Allele Identifier: CA355011849
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972512A>C , CM000665.2:g.150972512A>C GRCh38
NC_000003.11:g.150690299A>C , CM000665.1:g.150690299A>C GRCh37
NC_000003.10:g.152172989A>C NCBI36
NG_009168.1:g.5488T>G , LRG_700:g.5488T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.197T>G MANE Select ENSP00000322280.1:p.Phe66Cys
ENST00000468836.2:c.173T>G ENSP00000419892.2:p.Phe58Cys
ENST00000644099.1:c.38T>G ENSP00000494762.1:p.Phe13Cys
ENST00000645441.1:c.39T>G
ENST00000327047.5:c.197T>G ENSP00000322280.1:p.Phe66Cys
ENST00000328863.8:c.197T>G ENSP00000329158.4:p.Phe66Cys
ENST00000468836.1:c.-204T>G ENSP00000419892.1:n.-204T>G
ENST00000472224.1:n.203T>G
NM_001195794.1:c.197T>G , LRG_700t1:c.197T>G NP_001182723.1:p.Phe66Cys
NM_001256819.1:c.197T>G NP_001243748.1:p.Phe66Cys
NM_174878.2:c.197T>G NP_777367.1:p.Phe66Cys
NR_046380.2:n.488T>G
XR_924167.1:n.509T>G
NM_001256819.2:c.197T>G NP_001243748.1:p.Phe66Cys
NM_174878.3:c.197T>G MANE Select NP_777367.1:p.Phe66Cys
NR_046380.3:n.216T>G