Canonical Allele Identifier: CA2577935419

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927852C>G , CM000665.2:g.150927852C>G	GRCh38
NC_000003.11:g.150645639C>G , CM000665.1:g.150645639C>G	GRCh37
NC_000003.10:g.152128329C>G	NCBI36
NG_009168.1:g.50148G>C , LRG_700:g.50148G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*84G>C MANE Select	ENSP00000322280.1:n.*84G>C
ENST00000295911.6:c.342+213G>C	ENSP00000295911.2:n.342+213G>C
ENST00000327047.5:c.*84G>C	ENSP00000322280.1:n.*84G>C
ENST00000562308.5:c.104+13730G>C
ENST00000565169.1:c.162+13730G>C
ENST00000569170.5:c.162+13730G>C
NM_001195794.1:c.*84G>C , LRG_700t1:c.*84G>C	NP_001182723.1:n.*84G>C
NM_001256819.1:c.*397G>C	NP_001243748.1:n.*397G>C
NM_052995.2:c.342+213G>C , LRG_700t2:c.342+213G>C	NP_443721.1:n.342+213G>C
NM_174878.2:c.*84G>C	NP_777367.1:n.*84G>C
NR_046380.2:n.1264G>C
XR_924167.1:n.1095G>C
NM_001256819.2:c.*397G>C	NP_001243748.1:n.*397G>C
NM_174878.3:c.*84G>C MANE Select	NP_777367.1:n.*84G>C
NR_046380.3:n.992G>C