Canonical Allele Identifier: CA1410888493

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941647G= , CM000665.2:g.150941647G=	GRCh38
NC_000003.11:g.150659434G= , CM000665.1:g.150659434G=	GRCh37
NC_000003.10:g.152142124G=	NCBI36
NG_009168.1:g.36353C= , LRG_700:g.36353C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.368C= MANE Select	ENSP00000322280.1:p.Ala123=
ENST00000468836.2:c.516C=	ENSP00000419892.2:p.Cys172=
ENST00000644099.1:c.360C=	ENSP00000494762.1:n.360C=
ENST00000295911.6:c.140C=	ENSP00000295911.2:p.Ala47=
ENST00000327047.5:c.368C=	ENSP00000322280.1:p.Ala123=
ENST00000328863.8:c.368C=	ENSP00000329158.4:p.Ala123=
ENST00000468836.1:c.140C=	ENSP00000419892.1:p.Ala47=
ENST00000472224.1:n.374C=
ENST00000485607.1:c.32C=	ENSP00000419244.1:p.Ala11=
ENST00000562308.5:c.39C=
ENST00000565169.1:c.97C=
ENST00000569170.5:c.97C=
NM_001195794.1:c.368C= , LRG_700t1:c.368C=	NP_001182723.1:p.Ala123=
NM_001256819.1:c.540C=	NP_001243748.1:p.Cys180=
NM_052995.2:c.140C= , LRG_700t2:c.140C=	NP_443721.1:p.Ala47=
NM_174878.2:c.368C=	NP_777367.1:p.Ala123=
NR_046380.2:n.810C=
XR_924167.1:n.680C=
NM_001256819.2:c.540C=	NP_001243748.1:p.Cys180=
NM_174878.3:c.368C= MANE Select	NP_777367.1:p.Ala123=
NR_046380.3:n.538C=