Canonical Allele Identifier: CA142675
Gene: CLRN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48142
dbSNP Id: rs111033434

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972582C>T , CM000665.2:g.150972582C>T GRCh38
NC_000003.11:g.150690369C>T , CM000665.1:g.150690369C>T GRCh37
NC_000003.10:g.152173059C>T NCBI36
NG_009168.1:g.5418G>A , LRG_700:g.5418G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327047.6:c.127G>A MANE Select ENSP00000322280.1:p.Gly43Arg
ENST00000468836.2:c.103G>A ENSP00000419892.2:p.Gly35Arg
ENST00000327047.5:c.127G>A ENSP00000322280.1:p.Gly43Arg
ENST00000328863.8:c.127G>A ENSP00000329158.4:p.Gly43Arg
ENST00000468836.1:c.-274G>A ENSP00000419892.1:n.-274G>A
ENST00000472224.1:n.133G>A
NM_001195794.1:c.127G>A , LRG_700t1:c.127G>A NP_001182723.1:p.Gly43Arg
NM_001256819.1:c.127G>A NP_001243748.1:p.Gly43Arg
NM_174878.2:c.127G>A NP_777367.1:p.Gly43Arg
NR_046380.2:n.418G>A
XR_924167.1:n.439G>A
NM_001256819.2:c.127G>A NP_001243748.1:p.Gly43Arg
NM_174878.3:c.127G>A MANE Select NP_777367.1:p.Gly43Arg
NR_046380.3:n.146G>A