Canonical Allele Identifier: CA1410883191

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927970T= , CM000665.2:g.150927970T=	GRCh38
NC_000003.11:g.150645757T= , CM000665.1:g.150645757T=	GRCh37
NC_000003.10:g.152128447T=	NCBI36
NG_009168.1:g.50030A= , LRG_700:g.50030A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.665A= MANE Select	ENSP00000322280.1:p.Glu222=
ENST00000295911.6:c.342+95A=	ENSP00000295911.2:n.342+95A=
ENST00000327047.5:c.665A=	ENSP00000322280.1:p.Glu222=
ENST00000328863.8:c.704A=	ENSP00000329158.4:p.Glu235=
ENST00000562308.5:c.104+13612A=
ENST00000565169.1:c.162+13612A=
ENST00000569170.5:c.162+13612A=
NM_001195794.1:c.704A= , LRG_700t1:c.704A=	NP_001182723.1:p.Glu235=
NM_001256819.1:c.*279A=	NP_001243748.1:n.*279A=
NM_052995.2:c.342+95A= , LRG_700t2:c.342+95A=	NP_443721.1:n.342+95A=
NM_174878.2:c.665A=	NP_777367.1:p.Glu222=
NR_046380.2:n.1146A=
XR_924167.1:n.977A=
NM_001256819.2:c.*279A=	NP_001243748.1:n.*279A=
NM_174878.3:c.665A= MANE Select	NP_777367.1:p.Glu222=
NR_046380.3:n.874A=