Canonical Allele Identifier: CA354955303

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659378A>C (hg19) ; chr3:g.150941591A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941591A>C , CM000665.2:g.150941591A>C	GRCh38
NC_000003.11:g.150659378A>C , CM000665.1:g.150659378A>C	GRCh37
NC_000003.10:g.152142068A>C	NCBI36
NG_009168.1:g.36409T>G , LRG_700:g.36409T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.424T>G MANE Select	ENSP00000322280.1:p.Phe142Val
ENST00000468836.2:c.572T>G	ENSP00000419892.2:n.572T>G
ENST00000644099.1:c.416T>G	ENSP00000494762.1:n.416T>G
ENST00000295911.6:c.196T>G	ENSP00000295911.2:p.Phe66Val
ENST00000327047.5:c.424T>G	ENSP00000322280.1:p.Phe142Val
ENST00000328863.8:c.424T>G	ENSP00000329158.4:p.Phe142Val
ENST00000468836.1:c.196T>G	ENSP00000419892.1:p.Phe66Val
ENST00000472224.1:n.430T>G
ENST00000485607.1:c.88T>G	ENSP00000419244.1:p.Phe30Val
ENST00000562308.5:c.95T>G
ENST00000565169.1:c.153T>G
ENST00000569170.5:c.153T>G
NM_001195794.1:c.424T>G , LRG_700t1:c.424T>G	NP_001182723.1:p.Phe142Val
NM_001256819.1:c.*38T>G	NP_001243748.1:n.*38T>G
NM_052995.2:c.196T>G , LRG_700t2:c.196T>G	NP_443721.1:p.Phe66Val
NM_174878.2:c.424T>G	NP_777367.1:p.Phe142Val
NR_046380.2:n.866T>G
XR_924167.1:n.736T>G
NM_001256819.2:c.*38T>G	NP_001243748.1:n.*38T>G
NM_174878.3:c.424T>G MANE Select	NP_777367.1:p.Phe142Val
NR_046380.3:n.594T>G