Canonical Allele Identifier: CA1410883232
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928084T= , CM000665.2:g.150928084T= GRCh38
NC_000003.11:g.150645871T= , CM000665.1:g.150645871T= GRCh37
NC_000003.10:g.152128561T= NCBI36
NG_009168.1:g.49916A= , LRG_700:g.49916A=

Transcript Alleles

HGVS Amino-acid change
ENST00000327047.6:c.551A= MANE Select ENSP00000322280.1:p.Lys184=
ENST00000468836.2:c.699A= ENSP00000419892.2:n.699A=
ENST00000295911.6:c.323A= ENSP00000295911.2:p.Lys108=
ENST00000327047.5:c.551A= ENSP00000322280.1:p.Lys184=
ENST00000328863.8:c.590A= ENSP00000329158.4:p.Lys197=
ENST00000468836.1:c.323A= ENSP00000419892.1:p.Lys108=
ENST00000562308.5:c.104+13498A=
ENST00000565169.1:c.162+13498A=
ENST00000569170.5:c.162+13498A=
NM_001195794.1:c.590A= , LRG_700t1:c.590A= NP_001182723.1:p.Lys197=
NM_001256819.1:c.*165A= NP_001243748.1:n.*165A=
NM_052995.2:c.323A= , LRG_700t2:c.323A= NP_443721.1:p.Lys108=
NM_174878.2:c.551A= NP_777367.1:p.Lys184=
NR_046380.2:n.1032A=
XR_924167.1:n.863A=
NM_001256819.2:c.*165A= NP_001243748.1:n.*165A=
NM_174878.3:c.551A= MANE Select NP_777367.1:p.Lys184=
NR_046380.3:n.760A=