Canonical Allele Identifier: CA354953227

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928139C>A , CM000665.2:g.150928139C>A	GRCh38
NC_000003.11:g.150645926C>A , CM000665.1:g.150645926C>A	GRCh37
NC_000003.10:g.152128616C>A	NCBI36
NG_009168.1:g.49861G>T , LRG_700:g.49861G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.496G>T MANE Select	NP_777367.1:p.Glu166Ter
ENST00000327047.6:c.496G>T MANE Select	ENSP00000322280.1:p.Glu166Ter
NM_001195794.1:c.535G>T , LRG_700t1:c.535G>T	NP_001182723.1:p.Glu179Ter
NM_001256819.1:c.*110G>T	NP_001243748.1:n.*110G>T
NM_001256819.2:c.*110G>T	NP_001243748.1:n.*110G>T
NM_052995.2:c.268G>T , LRG_700t2:c.268G>T	NP_443721.1:p.Glu90Ter
NM_174878.2:c.496G>T	NP_777367.1:p.Glu166Ter
NR_046380.2:n.977G>T
NR_046380.3:n.705G>T
ENST00000295911.6:c.268G>T	ENSP00000295911.2:p.Glu90Ter
ENST00000327047.5:c.496G>T	ENSP00000322280.1:p.Glu166Ter
ENST00000328863.8:c.535G>T	ENSP00000329158.4:p.Glu179Ter
ENST00000468836.1:c.268G>T	ENSP00000419892.1:p.Glu90Ter
ENST00000468836.2:c.644G>T	ENSP00000419892.2:n.644G>T
ENST00000562308.5:c.104+13443G>T
ENST00000565169.1:c.162+13443G>T
ENST00000569170.5:c.162+13443G>T
XR_924167.1:n.808G>T