Canonical Allele Identifier: CA116829
Gene: CLRN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4396
ClinVar RCV Id: RCV000004646
dbSNP Id: rs121908142

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928186A>G , CM000665.2:g.150928186A>G GRCh38
NC_000003.11:g.150645973A>G , CM000665.1:g.150645973A>G GRCh37
NC_000003.10:g.152128663A>G NCBI36
NG_009168.1:g.49814T>C , LRG_700:g.49814T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327047.6:c.449T>C MANE Select ENSP00000322280.1:p.Leu150Pro
ENST00000468836.2:c.597T>C ENSP00000419892.2:n.597T>C
ENST00000295911.6:c.221T>C ENSP00000295911.2:p.Leu74Pro
ENST00000327047.5:c.449T>C ENSP00000322280.1:p.Leu150Pro
ENST00000328863.8:c.488T>C ENSP00000329158.4:p.Leu163Pro
ENST00000468836.1:c.221T>C ENSP00000419892.1:p.Leu74Pro
ENST00000485607.1:c.113T>C ENSP00000419244.1:p.Leu38Pro
ENST00000562308.5:c.104+13396T>C
ENST00000565169.1:c.162+13396T>C
ENST00000569170.5:c.162+13396T>C
NM_001195794.1:c.488T>C , LRG_700t1:c.488T>C NP_001182723.1:p.Leu163Pro
NM_001256819.1:c.*63T>C NP_001243748.1:n.*63T>C
NM_052995.2:c.221T>C , LRG_700t2:c.221T>C NP_443721.1:p.Leu74Pro
NM_174878.2:c.449T>C NP_777367.1:p.Leu150Pro
NR_046380.2:n.930T>C
XR_924167.1:n.761T>C
NM_001256819.2:c.*63T>C NP_001243748.1:n.*63T>C
NM_174878.3:c.449T>C MANE Select NP_777367.1:p.Leu150Pro
NR_046380.3:n.658T>C