Canonical Allele Identifier: CA2577935411

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926827G>A , CM000665.2:g.150926827G>A	GRCh38
NC_000003.11:g.150644614G>A , CM000665.1:g.150644614G>A	GRCh37
NC_000003.10:g.152127304G>A	NCBI36
NG_009168.1:g.51173C>T , LRG_700:g.51173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*1109C>T MANE Select	ENSP00000322280.1:n.*1109C>T
ENST00000295911.6:c.*25C>T	ENSP00000295911.2:n.*25C>T
ENST00000327047.5:c.*1109C>T	ENSP00000322280.1:n.*1109C>T
ENST00000562308.5:c.104+14755C>T
ENST00000565169.1:c.162+14755C>T
ENST00000569170.5:c.162+14755C>T
NM_001195794.1:c.*1109C>T , LRG_700t1:c.*1109C>T	NP_001182723.1:n.*1109C>T
NM_001256819.1:c.*1422C>T	NP_001243748.1:n.*1422C>T
NM_052995.2:c.*25C>T , LRG_700t2:c.*25C>T	NP_443721.1:n.*25C>T
NM_174878.2:c.*1109C>T	NP_777367.1:n.*1109C>T
NR_046380.2:n.2289C>T
XR_924167.1:n.2120C>T
NM_001256819.2:c.*1422C>T	NP_001243748.1:n.*1422C>T
NM_174878.3:c.*1109C>T MANE Select	NP_777367.1:n.*1109C>T
NR_046380.3:n.2017C>T