Canonical Allele Identifier: CA354952784

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150927948-A-T
• MyVariant Identifiers: chr3:g.150645735A>T (hg19) ; chr3:g.150927948A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927948A>T , CM000665.2:g.150927948A>T	GRCh38
NC_000003.11:g.150645735A>T , CM000665.1:g.150645735A>T	GRCh37
NC_000003.10:g.152128425A>T	NCBI36
NG_009168.1:g.50052T>A , LRG_700:g.50052T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.687T>A MANE Select	ENSP00000322280.1:p.Asp229Glu
ENST00000295911.6:c.342+117T>A	ENSP00000295911.2:n.342+117T>A
ENST00000327047.5:c.687T>A	ENSP00000322280.1:p.Asp229Glu
ENST00000328863.8:c.726T>A	ENSP00000329158.4:p.Asp242Glu
ENST00000562308.5:c.104+13634T>A
ENST00000565169.1:c.162+13634T>A
ENST00000569170.5:c.162+13634T>A
NM_001195794.1:c.726T>A , LRG_700t1:c.726T>A	NP_001182723.1:p.Asp242Glu
NM_001256819.1:c.*301T>A	NP_001243748.1:n.*301T>A
NM_052995.2:c.342+117T>A , LRG_700t2:c.342+117T>A	NP_443721.1:n.342+117T>A
NM_174878.2:c.687T>A	NP_777367.1:p.Asp229Glu
NR_046380.2:n.1168T>A
XR_924167.1:n.999T>A
NM_001256819.2:c.*301T>A	NP_001243748.1:n.*301T>A
NM_174878.3:c.687T>A MANE Select	NP_777367.1:p.Asp229Glu
NR_046380.3:n.896T>A