Canonical Allele Identifier: CA355012010
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972589G>T , CM000665.2:g.150972589G>T GRCh38
NC_000003.11:g.150690376G>T , CM000665.1:g.150690376G>T GRCh37
NC_000003.10:g.152173066G>T NCBI36
NG_009168.1:g.5411C>A , LRG_700:g.5411C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327047.6:c.120C>A MANE Select ENSP00000322280.1:p.Cys40Ter
ENST00000468836.2:c.96C>A ENSP00000419892.2:p.Cys32Ter
ENST00000327047.5:c.120C>A ENSP00000322280.1:p.Cys40Ter
ENST00000328863.8:c.120C>A ENSP00000329158.4:p.Cys40Ter
ENST00000468836.1:c.-281C>A ENSP00000419892.1:n.-281C>A
ENST00000472224.1:n.126C>A
NM_001195794.1:c.120C>A , LRG_700t1:c.120C>A NP_001182723.1:p.Cys40Ter
NM_001256819.1:c.120C>A NP_001243748.1:p.Cys40Ter
NM_174878.2:c.120C>A NP_777367.1:p.Cys40Ter
NR_046380.2:n.411C>A
XR_924167.1:n.432C>A
NM_001256819.2:c.120C>A NP_001243748.1:p.Cys40Ter
NM_174878.3:c.120C>A MANE Select NP_777367.1:p.Cys40Ter
NR_046380.3:n.139C>A