Canonical Allele Identifier: CA354952786

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645736T>G (hg19) ; chr3:g.150927949T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927949T>G , CM000665.2:g.150927949T>G	GRCh38
NC_000003.11:g.150645736T>G , CM000665.1:g.150645736T>G	GRCh37
NC_000003.10:g.152128426T>G	NCBI36
NG_009168.1:g.50051A>C , LRG_700:g.50051A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.686A>C MANE Select	ENSP00000322280.1:p.Asp229Ala
ENST00000295911.6:c.342+116A>C	ENSP00000295911.2:n.342+116A>C
ENST00000327047.5:c.686A>C	ENSP00000322280.1:p.Asp229Ala
ENST00000328863.8:c.725A>C	ENSP00000329158.4:p.Asp242Ala
ENST00000562308.5:c.104+13633A>C
ENST00000565169.1:c.162+13633A>C
ENST00000569170.5:c.162+13633A>C
NM_001195794.1:c.725A>C , LRG_700t1:c.725A>C	NP_001182723.1:p.Asp242Ala
NM_001256819.1:c.*300A>C	NP_001243748.1:n.*300A>C
NM_052995.2:c.342+116A>C , LRG_700t2:c.342+116A>C	NP_443721.1:n.342+116A>C
NM_174878.2:c.686A>C	NP_777367.1:p.Asp229Ala
NR_046380.2:n.1167A>C
XR_924167.1:n.998A>C
NM_001256819.2:c.*300A>C	NP_001243748.1:n.*300A>C
NM_174878.3:c.686A>C MANE Select	NP_777367.1:p.Asp229Ala
NR_046380.3:n.895A>C