Canonical Allele Identifier: CA354955823

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659480G>C (hg19) ; chr3:g.150941693G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941693G>C , CM000665.2:g.150941693G>C	GRCh38
NC_000003.11:g.150659480G>C , CM000665.1:g.150659480G>C	GRCh37
NC_000003.10:g.152142170G>C	NCBI36
NG_009168.1:g.36307C>G , LRG_700:g.36307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.322C>G MANE Select	ENSP00000322280.1:p.Leu108Val
ENST00000468836.2:c.470C>G	ENSP00000419892.2:p.Pro157Arg
ENST00000644099.1:c.314C>G	ENSP00000494762.1:n.314C>G
ENST00000295911.6:c.94C>G	ENSP00000295911.2:p.Leu32Val
ENST00000327047.5:c.322C>G	ENSP00000322280.1:p.Leu108Val
ENST00000328863.8:c.322C>G	ENSP00000329158.4:p.Leu108Val
ENST00000468836.1:c.94C>G	ENSP00000419892.1:p.Leu32Val
ENST00000472224.1:n.328C>G
ENST00000485607.1:c.-15C>G	ENSP00000419244.1:n.-15C>G
ENST00000565169.1:c.51C>G
ENST00000569170.5:c.51C>G
NM_001195794.1:c.322C>G , LRG_700t1:c.322C>G	NP_001182723.1:p.Leu108Val
NM_001256819.1:c.494C>G	NP_001243748.1:p.Pro165Arg
NM_052995.2:c.94C>G , LRG_700t2:c.94C>G	NP_443721.1:p.Leu32Val
NM_174878.2:c.322C>G	NP_777367.1:p.Leu108Val
NR_046380.2:n.764C>G
XR_924167.1:n.634C>G
NM_001256819.2:c.494C>G	NP_001243748.1:p.Pro165Arg
NM_174878.3:c.322C>G MANE Select	NP_777367.1:p.Leu108Val
NR_046380.3:n.492C>G