Canonical Allele Identifier: CA354955581

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659448G>C (hg19) ; chr3:g.150941661G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941661G>C , CM000665.2:g.150941661G>C	GRCh38
NC_000003.11:g.150659448G>C , CM000665.1:g.150659448G>C	GRCh37
NC_000003.10:g.152142138G>C	NCBI36
NG_009168.1:g.36339C>G , LRG_700:g.36339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.354C>G MANE Select	ENSP00000322280.1:p.Phe118Leu
ENST00000468836.2:c.502C>G	ENSP00000419892.2:p.Leu168Val
ENST00000644099.1:c.346C>G	ENSP00000494762.1:n.346C>G
ENST00000295911.6:c.126C>G	ENSP00000295911.2:p.Phe42Leu
ENST00000327047.5:c.354C>G	ENSP00000322280.1:p.Phe118Leu
ENST00000328863.8:c.354C>G	ENSP00000329158.4:p.Phe118Leu
ENST00000468836.1:c.126C>G	ENSP00000419892.1:p.Phe42Leu
ENST00000472224.1:n.360C>G
ENST00000485607.1:c.18C>G	ENSP00000419244.1:p.Phe6Leu
ENST00000562308.5:c.25C>G
ENST00000565169.1:c.83C>G
ENST00000569170.5:c.83C>G
NM_001195794.1:c.354C>G , LRG_700t1:c.354C>G	NP_001182723.1:p.Phe118Leu
NM_001256819.1:c.526C>G	NP_001243748.1:p.Leu176Val
NM_052995.2:c.126C>G , LRG_700t2:c.126C>G	NP_443721.1:p.Phe42Leu
NM_174878.2:c.354C>G	NP_777367.1:p.Phe118Leu
NR_046380.2:n.796C>G
XR_924167.1:n.666C>G
NM_001256819.2:c.526C>G	NP_001243748.1:p.Leu176Val
NM_174878.3:c.354C>G MANE Select	NP_777367.1:p.Phe118Leu
NR_046380.3:n.524C>G