Canonical Allele Identifier: CA2839567547

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926767A>T , CM000665.2:g.150926767A>T	GRCh38
NC_000003.11:g.150644554A>T , CM000665.1:g.150644554A>T	GRCh37
NC_000003.10:g.152127244A>T	NCBI36
NG_009168.1:g.51233T>A , LRG_700:g.51233T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*1169T>A MANE Select	ENSP00000322280.1:n.*1169T>A
ENST00000295911.6:c.*85T>A	ENSP00000295911.2:n.*85T>A
ENST00000327047.5:c.*1169T>A	ENSP00000322280.1:n.*1169T>A
ENST00000562308.5:c.104+14815T>A
ENST00000565169.1:c.162+14815T>A
ENST00000569170.5:c.162+14815T>A
NM_001195794.1:c.*1169T>A , LRG_700t1:c.*1169T>A	NP_001182723.1:n.*1169T>A
NM_001256819.1:c.*1482T>A	NP_001243748.1:n.*1482T>A
NM_052995.2:c.*85T>A , LRG_700t2:c.*85T>A	NP_443721.1:n.*85T>A
NM_174878.2:c.*1169T>A	NP_777367.1:n.*1169T>A
NR_046380.2:n.2349T>A
XR_924167.1:n.2180T>A
NM_001256819.2:c.*1482T>A	NP_001243748.1:n.*1482T>A
NM_174878.3:c.*1169T>A MANE Select	NP_777367.1:n.*1169T>A
NR_046380.3:n.2077T>A