Canonical Allele Identifier: CA355011789
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972485C>G , CM000665.2:g.150972485C>G GRCh38
NC_000003.11:g.150690272C>G , CM000665.1:g.150690272C>G GRCh37
NC_000003.10:g.152172962C>G NCBI36
NG_009168.1:g.5515G>C , LRG_700:g.5515G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.224G>C MANE Select ENSP00000322280.1:p.Gly75Ala
ENST00000468836.2:c.200G>C ENSP00000419892.2:p.Gly67Ala
ENST00000644099.1:c.65G>C ENSP00000494762.1:p.Gly22Ala
ENST00000645441.1:c.66G>C
ENST00000327047.5:c.224G>C ENSP00000322280.1:p.Gly75Ala
ENST00000328863.8:c.224G>C ENSP00000329158.4:p.Gly75Ala
ENST00000468836.1:c.-177G>C ENSP00000419892.1:n.-177G>C
ENST00000472224.1:n.230G>C
NM_001195794.1:c.224G>C , LRG_700t1:c.224G>C NP_001182723.1:p.Gly75Ala
NM_001256819.1:c.224G>C NP_001243748.1:p.Gly75Ala
NM_174878.2:c.224G>C NP_777367.1:p.Gly75Ala
NR_046380.2:n.515G>C
XR_924167.1:n.536G>C
NM_001256819.2:c.224G>C NP_001243748.1:p.Gly75Ala
NM_174878.3:c.224G>C MANE Select NP_777367.1:p.Gly75Ala
NR_046380.3:n.243G>C