Canonical Allele Identifier: CA354953080

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645874T>A (hg19) ; chr3:g.150928087T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928087T>A , CM000665.2:g.150928087T>A	GRCh38
NC_000003.11:g.150645874T>A , CM000665.1:g.150645874T>A	GRCh37
NC_000003.10:g.152128564T>A	NCBI36
NG_009168.1:g.49913A>T , LRG_700:g.49913A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.548A>T MANE Select	ENSP00000322280.1:p.Glu183Val
ENST00000468836.2:c.696A>T	ENSP00000419892.2:n.696A>T
ENST00000295911.6:c.320A>T	ENSP00000295911.2:p.Glu107Val
ENST00000327047.5:c.548A>T	ENSP00000322280.1:p.Glu183Val
ENST00000328863.8:c.587A>T	ENSP00000329158.4:p.Glu196Val
ENST00000468836.1:c.320A>T	ENSP00000419892.1:p.Glu107Val
ENST00000562308.5:c.104+13495A>T
ENST00000565169.1:c.162+13495A>T
ENST00000569170.5:c.162+13495A>T
NM_001195794.1:c.587A>T , LRG_700t1:c.587A>T	NP_001182723.1:p.Glu196Val
NM_001256819.1:c.*162A>T	NP_001243748.1:n.*162A>T
NM_052995.2:c.320A>T , LRG_700t2:c.320A>T	NP_443721.1:p.Glu107Val
NM_174878.2:c.548A>T	NP_777367.1:p.Glu183Val
NR_046380.2:n.1029A>T
XR_924167.1:n.860A>T
NM_001256819.2:c.*162A>T	NP_001243748.1:n.*162A>T
NM_174878.3:c.548A>T MANE Select	NP_777367.1:p.Glu183Val
NR_046380.3:n.757A>T