Canonical Allele Identifier: CA354953514

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928198G>T , CM000665.2:g.150928198G>T	GRCh38
NC_000003.11:g.150645985G>T , CM000665.1:g.150645985G>T	GRCh37
NC_000003.10:g.152128675G>T	NCBI36
NG_009168.1:g.49802C>A , LRG_700:g.49802C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.437C>A MANE Select	NP_777367.1:p.Ser146Tyr
ENST00000327047.6:c.437C>A MANE Select	ENSP00000322280.1:p.Ser146Tyr
NM_001195794.1:c.476C>A , LRG_700t1:c.476C>A	NP_001182723.1:p.Ser159Tyr
NM_001256819.1:c.*51C>A	NP_001243748.1:n.*51C>A
NM_001256819.2:c.*51C>A	NP_001243748.1:n.*51C>A
NM_052995.2:c.209C>A , LRG_700t2:c.209C>A	NP_443721.1:p.Ser70Tyr
NM_174878.2:c.437C>A	NP_777367.1:p.Ser146Tyr
NR_046380.2:n.918C>A
NR_046380.3:n.646C>A
ENST00000295911.6:c.209C>A	ENSP00000295911.2:p.Ser70Tyr
ENST00000327047.5:c.437C>A	ENSP00000322280.1:p.Ser146Tyr
ENST00000328863.8:c.476C>A	ENSP00000329158.4:p.Ser159Tyr
ENST00000468836.1:c.209C>A	ENSP00000419892.1:p.Ser70Tyr
ENST00000468836.2:c.585C>A	ENSP00000419892.2:n.585C>A
ENST00000485607.1:c.101C>A	ENSP00000419244.1:p.Ser34Tyr
ENST00000562308.5:c.104+13384C>A
ENST00000565169.1:c.162+13384C>A
ENST00000569170.5:c.162+13384C>A
XR_924167.1:n.749C>A