Canonical Allele Identifier: CA354952763

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645726G>T (hg19) ; chr3:g.150927939G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927939G>T , CM000665.2:g.150927939G>T	GRCh38
NC_000003.11:g.150645726G>T , CM000665.1:g.150645726G>T	GRCh37
NC_000003.10:g.152128416G>T	NCBI36
NG_009168.1:g.50061C>A , LRG_700:g.50061C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.696C>A MANE Select	ENSP00000322280.1:p.Tyr232Ter
ENST00000295911.6:c.342+126C>A	ENSP00000295911.2:n.342+126C>A
ENST00000327047.5:c.696C>A	ENSP00000322280.1:p.Tyr232Ter
ENST00000328863.8:c.735C>A	ENSP00000329158.4:p.Tyr245Ter
ENST00000562308.5:c.104+13643C>A
ENST00000565169.1:c.162+13643C>A
ENST00000569170.5:c.162+13643C>A
NM_001195794.1:c.735C>A , LRG_700t1:c.735C>A	NP_001182723.1:p.Tyr245Ter
NM_001256819.1:c.*310C>A	NP_001243748.1:n.*310C>A
NM_052995.2:c.342+126C>A , LRG_700t2:c.342+126C>A	NP_443721.1:n.342+126C>A
NM_174878.2:c.696C>A	NP_777367.1:p.Tyr232Ter
NR_046380.2:n.1177C>A
XR_924167.1:n.1008C>A
NM_001256819.2:c.*310C>A	NP_001243748.1:n.*310C>A
NM_174878.3:c.696C>A MANE Select	NP_777367.1:p.Tyr232Ter
NR_046380.3:n.905C>A