Canonical Allele Identifier: CA1410883133

Gene: CLRN1

Linked Data

• dbSNP Id: rs1712902524
• gnomAD v4: 3-150927858-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927858G>T , CM000665.2:g.150927858G>T	GRCh38
NC_000003.11:g.150645645G>T , CM000665.1:g.150645645G>T	GRCh37
NC_000003.10:g.152128335G>T	NCBI36
NG_009168.1:g.50142C>A , LRG_700:g.50142C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*78C>A MANE Select	ENSP00000322280.1:n.*78C>A
ENST00000295911.6:c.342+207C>A	ENSP00000295911.2:n.342+207C>A
ENST00000327047.5:c.*78C>A	ENSP00000322280.1:n.*78C>A
ENST00000562308.5:c.104+13724C>A
ENST00000565169.1:c.162+13724C>A
ENST00000569170.5:c.162+13724C>A
NM_001195794.1:c.*78C>A , LRG_700t1:c.*78C>A	NP_001182723.1:n.*78C>A
NM_001256819.1:c.*391C>A	NP_001243748.1:n.*391C>A
NM_052995.2:c.342+207C>A , LRG_700t2:c.342+207C>A	NP_443721.1:n.342+207C>A
NM_174878.2:c.*78C>A	NP_777367.1:n.*78C>A
NR_046380.2:n.1258C>A
XR_924167.1:n.1089C>A
NM_001256819.2:c.*391C>A	NP_001243748.1:n.*391C>A
NM_174878.3:c.*78C>A MANE Select	NP_777367.1:n.*78C>A
NR_046380.3:n.986C>A