Canonical Allele Identifier: CA436394106

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645969G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928182G>T , CM000665.2:g.150928182G>T	GRCh38
NC_000003.11:g.150645969G>T , CM000665.1:g.150645969G>T	GRCh37
NC_000003.10:g.152128659G>T	NCBI36
NG_009168.1:g.49818C>A , LRG_700:g.49818C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.453C>A MANE Select	ENSP00000322280.1:p.Val151=
ENST00000468836.2:c.601C>A	ENSP00000419892.2:n.601C>A
ENST00000295911.6:c.225C>A	ENSP00000295911.2:p.Val75=
ENST00000327047.5:c.453C>A	ENSP00000322280.1:p.Val151=
ENST00000328863.8:c.492C>A	ENSP00000329158.4:p.Val164=
ENST00000468836.1:c.225C>A	ENSP00000419892.1:p.Val75=
ENST00000485607.1:c.117C>A	ENSP00000419244.1:p.Val39=
ENST00000562308.5:c.104+13400C>A
ENST00000565169.1:c.162+13400C>A
ENST00000569170.5:c.162+13400C>A
NM_001195794.1:c.492C>A , LRG_700t1:c.492C>A	NP_001182723.1:p.Val164=
NM_001256819.1:c.*67C>A	NP_001243748.1:n.*67C>A
NM_052995.2:c.225C>A , LRG_700t2:c.225C>A	NP_443721.1:p.Val75=
NM_174878.2:c.453C>A	NP_777367.1:p.Val151=
NR_046380.2:n.934C>A
XR_924167.1:n.765C>A
NM_001256819.2:c.*67C>A	NP_001243748.1:n.*67C>A
NM_174878.3:c.453C>A MANE Select	NP_777367.1:p.Val151=
NR_046380.3:n.662C>A