Canonical Allele Identifier: CA354952927
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928016G>C , CM000665.2:g.150928016G>C GRCh38
NC_000003.11:g.150645803G>C , CM000665.1:g.150645803G>C GRCh37
NC_000003.10:g.152128493G>C NCBI36
NG_009168.1:g.49984C>G , LRG_700:g.49984C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.619C>G MANE Select ENSP00000322280.1:p.Arg207Gly
ENST00000295911.6:c.342+49C>G ENSP00000295911.2:n.342+49C>G
ENST00000327047.5:c.619C>G ENSP00000322280.1:p.Arg207Gly
ENST00000328863.8:c.658C>G ENSP00000329158.4:p.Arg220Gly
ENST00000562308.5:c.104+13566C>G
ENST00000565169.1:c.162+13566C>G
ENST00000569170.5:c.162+13566C>G
NM_001195794.1:c.658C>G , LRG_700t1:c.658C>G NP_001182723.1:p.Arg220Gly
NM_001256819.1:c.*233C>G NP_001243748.1:n.*233C>G
NM_052995.2:c.342+49C>G , LRG_700t2:c.342+49C>G NP_443721.1:n.342+49C>G
NM_174878.2:c.619C>G NP_777367.1:p.Arg207Gly
NR_046380.2:n.1100C>G
XR_924167.1:n.931C>G
NM_001256819.2:c.*233C>G NP_001243748.1:n.*233C>G
NM_174878.3:c.619C>G MANE Select NP_777367.1:p.Arg207Gly
NR_046380.3:n.828C>G