Canonical Allele Identifier: CA354952795

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645740C>G (hg19) ; chr3:g.150927953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927953C>G , CM000665.2:g.150927953C>G	GRCh38
NC_000003.11:g.150645740C>G , CM000665.1:g.150645740C>G	GRCh37
NC_000003.10:g.152128430C>G	NCBI36
NG_009168.1:g.50047G>C , LRG_700:g.50047G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.682G>C MANE Select	ENSP00000322280.1:p.Ala228Pro
ENST00000295911.6:c.342+112G>C	ENSP00000295911.2:n.342+112G>C
ENST00000327047.5:c.682G>C	ENSP00000322280.1:p.Ala228Pro
ENST00000328863.8:c.721G>C	ENSP00000329158.4:p.Ala241Pro
ENST00000562308.5:c.104+13629G>C
ENST00000565169.1:c.162+13629G>C
ENST00000569170.5:c.162+13629G>C
NM_001195794.1:c.721G>C , LRG_700t1:c.721G>C	NP_001182723.1:p.Ala241Pro
NM_001256819.1:c.*296G>C	NP_001243748.1:n.*296G>C
NM_052995.2:c.342+112G>C , LRG_700t2:c.342+112G>C	NP_443721.1:n.342+112G>C
NM_174878.2:c.682G>C	NP_777367.1:p.Ala228Pro
NR_046380.2:n.1163G>C
XR_924167.1:n.994G>C
NM_001256819.2:c.*296G>C	NP_001243748.1:n.*296G>C
NM_174878.3:c.682G>C MANE Select	NP_777367.1:p.Ala228Pro
NR_046380.3:n.891G>C