Canonical Allele Identifier: CA436393845

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645759T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927972T>G , CM000665.2:g.150927972T>G	GRCh38
NC_000003.11:g.150645759T>G , CM000665.1:g.150645759T>G	GRCh37
NC_000003.10:g.152128449T>G	NCBI36
NG_009168.1:g.50028A>C , LRG_700:g.50028A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.663A>C MANE Select	ENSP00000322280.1:p.Ala221=
ENST00000295911.6:c.342+93A>C	ENSP00000295911.2:n.342+93A>C
ENST00000327047.5:c.663A>C	ENSP00000322280.1:p.Ala221=
ENST00000328863.8:c.702A>C	ENSP00000329158.4:p.Ala234=
ENST00000562308.5:c.104+13610A>C
ENST00000565169.1:c.162+13610A>C
ENST00000569170.5:c.162+13610A>C
NM_001195794.1:c.702A>C , LRG_700t1:c.702A>C	NP_001182723.1:p.Ala234=
NM_001256819.1:c.*277A>C	NP_001243748.1:n.*277A>C
NM_052995.2:c.342+93A>C , LRG_700t2:c.342+93A>C	NP_443721.1:n.342+93A>C
NM_174878.2:c.663A>C	NP_777367.1:p.Ala221=
NR_046380.2:n.1144A>C
XR_924167.1:n.975A>C
NM_001256819.2:c.*277A>C	NP_001243748.1:n.*277A>C
NM_174878.3:c.663A>C MANE Select	NP_777367.1:p.Ala221=
NR_046380.3:n.872A>C