Canonical Allele Identifier: CA354955465

Gene: CLRN1

Linked Data

• COSMIC: COSM728742 ; COSM1149621
• MyVariant Identifiers: chr3:g.150659416T>C (hg19) ; chr3:g.150941629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941629T>C , CM000665.2:g.150941629T>C	GRCh38
NC_000003.11:g.150659416T>C , CM000665.1:g.150659416T>C	GRCh37
NC_000003.10:g.152142106T>C	NCBI36
NG_009168.1:g.36371A>G , LRG_700:g.36371A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.386A>G MANE Select	ENSP00000322280.1:p.Glu129Gly
ENST00000468836.2:c.534A>G	ENSP00000419892.2:p.Ter178Trp
ENST00000644099.1:c.378A>G	ENSP00000494762.1:n.378A>G
ENST00000295911.6:c.158A>G	ENSP00000295911.2:p.Glu53Gly
ENST00000327047.5:c.386A>G	ENSP00000322280.1:p.Glu129Gly
ENST00000328863.8:c.386A>G	ENSP00000329158.4:p.Glu129Gly
ENST00000468836.1:c.158A>G	ENSP00000419892.1:p.Glu53Gly
ENST00000472224.1:n.392A>G
ENST00000485607.1:c.50A>G	ENSP00000419244.1:p.Glu17Gly
ENST00000562308.5:c.57A>G
ENST00000565169.1:c.115A>G
ENST00000569170.5:c.115A>G
NM_001195794.1:c.386A>G , LRG_700t1:c.386A>G	NP_001182723.1:p.Glu129Gly
NM_001256819.1:c.558A>G	NP_001243748.1:p.Ter186Trp
NM_052995.2:c.158A>G , LRG_700t2:c.158A>G	NP_443721.1:p.Glu53Gly
NM_174878.2:c.386A>G	NP_777367.1:p.Glu129Gly
NR_046380.2:n.828A>G
XR_924167.1:n.698A>G
NM_001256819.2:c.558A>G	NP_001243748.1:p.Ter186Trp
NM_174878.3:c.386A>G MANE Select	NP_777367.1:p.Glu129Gly
NR_046380.3:n.556A>G