Canonical Allele Identifier: CA354952838

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645762G>T (hg19) ; chr3:g.150927975G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927975G>T , CM000665.2:g.150927975G>T	GRCh38
NC_000003.11:g.150645762G>T , CM000665.1:g.150645762G>T	GRCh37
NC_000003.10:g.152128452G>T	NCBI36
NG_009168.1:g.50025C>A , LRG_700:g.50025C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.660C>A MANE Select	ENSP00000322280.1:p.Asp220Glu
ENST00000295911.6:c.342+90C>A	ENSP00000295911.2:n.342+90C>A
ENST00000327047.5:c.660C>A	ENSP00000322280.1:p.Asp220Glu
ENST00000328863.8:c.699C>A	ENSP00000329158.4:p.Asp233Glu
ENST00000562308.5:c.104+13607C>A
ENST00000565169.1:c.162+13607C>A
ENST00000569170.5:c.162+13607C>A
NM_001195794.1:c.699C>A , LRG_700t1:c.699C>A	NP_001182723.1:p.Asp233Glu
NM_001256819.1:c.*274C>A	NP_001243748.1:n.*274C>A
NM_052995.2:c.342+90C>A , LRG_700t2:c.342+90C>A	NP_443721.1:n.342+90C>A
NM_174878.2:c.660C>A	NP_777367.1:p.Asp220Glu
NR_046380.2:n.1141C>A
XR_924167.1:n.972C>A
NM_001256819.2:c.*274C>A	NP_001243748.1:n.*274C>A
NM_174878.3:c.660C>A MANE Select	NP_777367.1:p.Asp220Glu
NR_046380.3:n.869C>A