Canonical Allele Identifier: CA354952990

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645833A>T (hg19) ; chr3:g.150928046A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928046A>T , CM000665.2:g.150928046A>T	GRCh38
NC_000003.11:g.150645833A>T , CM000665.1:g.150645833A>T	GRCh37
NC_000003.10:g.152128523A>T	NCBI36
NG_009168.1:g.49954T>A , LRG_700:g.49954T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.589T>A MANE Select	ENSP00000322280.1:p.Phe197Ile
ENST00000295911.6:c.342+19T>A	ENSP00000295911.2:n.342+19T>A
ENST00000327047.5:c.589T>A	ENSP00000322280.1:p.Phe197Ile
ENST00000328863.8:c.628T>A	ENSP00000329158.4:p.Phe210Ile
ENST00000562308.5:c.104+13536T>A
ENST00000565169.1:c.162+13536T>A
ENST00000569170.5:c.162+13536T>A
NM_001195794.1:c.628T>A , LRG_700t1:c.628T>A	NP_001182723.1:p.Phe210Ile
NM_001256819.1:c.*203T>A	NP_001243748.1:n.*203T>A
NM_052995.2:c.342+19T>A , LRG_700t2:c.342+19T>A	NP_443721.1:n.342+19T>A
NM_174878.2:c.589T>A	NP_777367.1:p.Phe197Ile
NR_046380.2:n.1070T>A
XR_924167.1:n.901T>A
NM_001256819.2:c.*203T>A	NP_001243748.1:n.*203T>A
NM_174878.3:c.589T>A MANE Select	NP_777367.1:p.Phe197Ile
NR_046380.3:n.798T>A