Canonical Allele Identifier: CA354952827

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645757T>G (hg19) ; chr3:g.150927970T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927970T>G , CM000665.2:g.150927970T>G	GRCh38
NC_000003.11:g.150645757T>G , CM000665.1:g.150645757T>G	GRCh37
NC_000003.10:g.152128447T>G	NCBI36
NG_009168.1:g.50030A>C , LRG_700:g.50030A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.665A>C MANE Select	ENSP00000322280.1:p.Glu222Ala
ENST00000295911.6:c.342+95A>C	ENSP00000295911.2:n.342+95A>C
ENST00000327047.5:c.665A>C	ENSP00000322280.1:p.Glu222Ala
ENST00000328863.8:c.704A>C	ENSP00000329158.4:p.Glu235Ala
ENST00000562308.5:c.104+13612A>C
ENST00000565169.1:c.162+13612A>C
ENST00000569170.5:c.162+13612A>C
NM_001195794.1:c.704A>C , LRG_700t1:c.704A>C	NP_001182723.1:p.Glu235Ala
NM_001256819.1:c.*279A>C	NP_001243748.1:n.*279A>C
NM_052995.2:c.342+95A>C , LRG_700t2:c.342+95A>C	NP_443721.1:n.342+95A>C
NM_174878.2:c.665A>C	NP_777367.1:p.Glu222Ala
NR_046380.2:n.1146A>C
XR_924167.1:n.977A>C
NM_001256819.2:c.*279A>C	NP_001243748.1:n.*279A>C
NM_174878.3:c.665A>C MANE Select	NP_777367.1:p.Glu222Ala
NR_046380.3:n.874A>C