Canonical Allele Identifier: CA354952921

Gene: CLRN1

Linked Data

• dbSNP Id: rs1246066431
• MyVariant Identifiers: chr3:g.150645799A>C (hg19) ; chr3:g.150928012A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928012A>C , CM000665.2:g.150928012A>C	GRCh38
NC_000003.11:g.150645799A>C , CM000665.1:g.150645799A>C	GRCh37
NC_000003.10:g.152128489A>C	NCBI36
NG_009168.1:g.49988T>G , LRG_700:g.49988T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.623T>G MANE Select	ENSP00000322280.1:p.Leu208Arg
ENST00000295911.6:c.342+53T>G	ENSP00000295911.2:n.342+53T>G
ENST00000327047.5:c.623T>G	ENSP00000322280.1:p.Leu208Arg
ENST00000328863.8:c.662T>G	ENSP00000329158.4:p.Leu221Arg
ENST00000562308.5:c.104+13570T>G
ENST00000565169.1:c.162+13570T>G
ENST00000569170.5:c.162+13570T>G
NM_001195794.1:c.662T>G , LRG_700t1:c.662T>G	NP_001182723.1:p.Leu221Arg
NM_001256819.1:c.*237T>G	NP_001243748.1:n.*237T>G
NM_052995.2:c.342+53T>G , LRG_700t2:c.342+53T>G	NP_443721.1:n.342+53T>G
NM_174878.2:c.623T>G	NP_777367.1:p.Leu208Arg
NR_046380.2:n.1104T>G
XR_924167.1:n.935T>G
NM_001256819.2:c.*237T>G	NP_001243748.1:n.*237T>G
NM_174878.3:c.623T>G MANE Select	NP_777367.1:p.Leu208Arg
NR_046380.3:n.832T>G