Canonical Allele Identifier: CA355011956
Community Standard Title: NM_174878.3(CLRN1):c.149C>A (p.Ser50Ter)
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972560G>T , CM000665.2:g.150972560G>T GRCh38
NC_000003.11:g.150690347G>T , CM000665.1:g.150690347G>T GRCh37
NC_000003.10:g.152173037G>T NCBI36
NG_009168.1:g.5440C>A , LRG_700:g.5440C>A

Transcript Alleles

HGVS Amino-acid Change
NM_174878.3:c.149C>A MANE Select NP_777367.1:p.Ser50Ter
ENST00000327047.6:c.149C>A MANE Select ENSP00000322280.1:p.Ser50Ter
NM_001195794.1:c.149C>A , LRG_700t1:c.149C>A NP_001182723.1:p.Ser50Ter
NM_001256819.1:c.149C>A NP_001243748.1:p.Ser50Ter
NM_001256819.2:c.149C>A NP_001243748.1:p.Ser50Ter
NM_174878.2:c.149C>A NP_777367.1:p.Ser50Ter
NR_046380.2:n.440C>A
NR_046380.3:n.168C>A
ENST00000327047.5:c.149C>A ENSP00000322280.1:p.Ser50Ter
ENST00000328863.8:c.149C>A ENSP00000329158.4:p.Ser50Ter
ENST00000468836.1:c.-252C>A ENSP00000419892.1:n.-252C>A
ENST00000468836.2:c.125C>A ENSP00000419892.2:p.Ser42Ter
ENST00000472224.1:n.155C>A
XR_924167.1:n.461C>A