Canonical Allele Identifier: CA354952761

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927938A>T , CM000665.2:g.150927938A>T	GRCh38
NC_000003.11:g.150645725A>T , CM000665.1:g.150645725A>T	GRCh37
NC_000003.10:g.152128415A>T	NCBI36
NG_009168.1:g.50062T>A , LRG_700:g.50062T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.697T>A MANE Select	NP_777367.1:p.Ter233Arg
ENST00000327047.6:c.697T>A MANE Select	ENSP00000322280.1:p.Ter233Arg
NM_001195794.1:c.736T>A , LRG_700t1:c.736T>A	NP_001182723.1:p.Ter246Arg
NM_001256819.1:c.*311T>A	NP_001243748.1:n.*311T>A
NM_001256819.2:c.*311T>A	NP_001243748.1:n.*311T>A
NM_052995.2:c.342+127T>A , LRG_700t2:c.342+127T>A	NP_443721.1:n.342+127T>A
NM_174878.2:c.697T>A	NP_777367.1:p.Ter233Arg
NR_046380.2:n.1178T>A
NR_046380.3:n.906T>A
ENST00000295911.6:c.342+127T>A	ENSP00000295911.2:n.342+127T>A
ENST00000327047.5:c.697T>A	ENSP00000322280.1:p.Ter233Arg
ENST00000328863.8:c.736T>A	ENSP00000329158.4:p.Ter246Arg
ENST00000562308.5:c.104+13644T>A
ENST00000565169.1:c.162+13644T>A
ENST00000569170.5:c.162+13644T>A
XR_924167.1:n.1009T>A