Canonical Allele Identifier: CA354953383

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645959A>C (hg19) ; chr3:g.150928172A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928172A>C , CM000665.2:g.150928172A>C	GRCh38
NC_000003.11:g.150645959A>C , CM000665.1:g.150645959A>C	GRCh37
NC_000003.10:g.152128649A>C	NCBI36
NG_009168.1:g.49828T>G , LRG_700:g.49828T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.463T>G MANE Select	ENSP00000322280.1:p.Phe155Val
ENST00000468836.2:c.611T>G	ENSP00000419892.2:n.611T>G
ENST00000295911.6:c.235T>G	ENSP00000295911.2:p.Phe79Val
ENST00000327047.5:c.463T>G	ENSP00000322280.1:p.Phe155Val
ENST00000328863.8:c.502T>G	ENSP00000329158.4:p.Phe168Val
ENST00000468836.1:c.235T>G	ENSP00000419892.1:p.Phe79Val
ENST00000562308.5:c.104+13410T>G
ENST00000565169.1:c.162+13410T>G
ENST00000569170.5:c.162+13410T>G
NM_001195794.1:c.502T>G , LRG_700t1:c.502T>G	NP_001182723.1:p.Phe168Val
NM_001256819.1:c.*77T>G	NP_001243748.1:n.*77T>G
NM_052995.2:c.235T>G , LRG_700t2:c.235T>G	NP_443721.1:p.Phe79Val
NM_174878.2:c.463T>G	NP_777367.1:p.Phe155Val
NR_046380.2:n.944T>G
XR_924167.1:n.775T>G
NM_001256819.2:c.*77T>G	NP_001243748.1:n.*77T>G
NM_174878.3:c.463T>G MANE Select	NP_777367.1:p.Phe155Val
NR_046380.3:n.672T>G