Canonical Allele Identifier: CA354953084

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645875C>G (hg19) ; chr3:g.150928088C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928088C>G , CM000665.2:g.150928088C>G	GRCh38
NC_000003.11:g.150645875C>G , CM000665.1:g.150645875C>G	GRCh37
NC_000003.10:g.152128565C>G	NCBI36
NG_009168.1:g.49912G>C , LRG_700:g.49912G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.547G>C MANE Select	ENSP00000322280.1:p.Glu183Gln
ENST00000468836.2:c.695G>C	ENSP00000419892.2:n.695G>C
ENST00000295911.6:c.319G>C	ENSP00000295911.2:p.Glu107Gln
ENST00000327047.5:c.547G>C	ENSP00000322280.1:p.Glu183Gln
ENST00000328863.8:c.586G>C	ENSP00000329158.4:p.Glu196Gln
ENST00000468836.1:c.319G>C	ENSP00000419892.1:p.Glu107Gln
ENST00000562308.5:c.104+13494G>C
ENST00000565169.1:c.162+13494G>C
ENST00000569170.5:c.162+13494G>C
NM_001195794.1:c.586G>C , LRG_700t1:c.586G>C	NP_001182723.1:p.Glu196Gln
NM_001256819.1:c.*161G>C	NP_001243748.1:n.*161G>C
NM_052995.2:c.319G>C , LRG_700t2:c.319G>C	NP_443721.1:p.Glu107Gln
NM_174878.2:c.547G>C	NP_777367.1:p.Glu183Gln
NR_046380.2:n.1028G>C
XR_924167.1:n.859G>C
NM_001256819.2:c.*161G>C	NP_001243748.1:n.*161G>C
NM_174878.3:c.547G>C MANE Select	NP_777367.1:p.Glu183Gln
NR_046380.3:n.756G>C