Canonical Allele Identifier: CA354955586

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659449A>C (hg19) ; chr3:g.150941662A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941662A>C , CM000665.2:g.150941662A>C	GRCh38
NC_000003.11:g.150659449A>C , CM000665.1:g.150659449A>C	GRCh37
NC_000003.10:g.152142139A>C	NCBI36
NG_009168.1:g.36338T>G , LRG_700:g.36338T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.353T>G MANE Select	ENSP00000322280.1:p.Phe118Cys
ENST00000468836.2:c.501T>G	ENSP00000419892.2:p.Leu167=
ENST00000644099.1:c.345T>G	ENSP00000494762.1:n.345T>G
ENST00000295911.6:c.125T>G	ENSP00000295911.2:p.Phe42Cys
ENST00000327047.5:c.353T>G	ENSP00000322280.1:p.Phe118Cys
ENST00000328863.8:c.353T>G	ENSP00000329158.4:p.Phe118Cys
ENST00000468836.1:c.125T>G	ENSP00000419892.1:p.Phe42Cys
ENST00000472224.1:n.359T>G
ENST00000485607.1:c.17T>G	ENSP00000419244.1:p.Phe6Cys
ENST00000562308.5:c.24T>G
ENST00000565169.1:c.82T>G
ENST00000569170.5:c.82T>G
NM_001195794.1:c.353T>G , LRG_700t1:c.353T>G	NP_001182723.1:p.Phe118Cys
NM_001256819.1:c.525T>G	NP_001243748.1:p.Leu175=
NM_052995.2:c.125T>G , LRG_700t2:c.125T>G	NP_443721.1:p.Phe42Cys
NM_174878.2:c.353T>G	NP_777367.1:p.Phe118Cys
NR_046380.2:n.795T>G
XR_924167.1:n.665T>G
NM_001256819.2:c.525T>G	NP_001243748.1:p.Leu175=
NM_174878.3:c.353T>G MANE Select	NP_777367.1:p.Phe118Cys
NR_046380.3:n.523T>G