Canonical Allele Identifier: CA2666006

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928029A>C , CM000665.2:g.150928029A>C	GRCh38
NC_000003.11:g.150645816A>C , CM000665.1:g.150645816A>C	GRCh37
NC_000003.10:g.152128506A>C	NCBI36
NG_009168.1:g.49971T>G , LRG_700:g.49971T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.606T>G MANE Select	NP_777367.1:p.Asn202Lys
ENST00000327047.6:c.606T>G MANE Select	ENSP00000322280.1:p.Asn202Lys
NM_001195794.1:c.645T>G , LRG_700t1:c.645T>G	NP_001182723.1:p.Asn215Lys
NM_001256819.1:c.*220T>G	NP_001243748.1:n.*220T>G
NM_001256819.2:c.*220T>G	NP_001243748.1:n.*220T>G
NM_052995.2:c.342+36T>G , LRG_700t2:c.342+36T>G	NP_443721.1:n.342+36T>G
NM_174878.2:c.606T>G	NP_777367.1:p.Asn202Lys
NR_046380.2:n.1087T>G
NR_046380.3:n.815T>G
ENST00000295911.6:c.342+36T>G	ENSP00000295911.2:n.342+36T>G
ENST00000327047.5:c.606T>G	ENSP00000322280.1:p.Asn202Lys
ENST00000328863.8:c.645T>G	ENSP00000329158.4:p.Asn215Lys
ENST00000562308.5:c.104+13553T>G
ENST00000565169.1:c.162+13553T>G
ENST00000569170.5:c.162+13553T>G
XR_924167.1:n.918T>G