Canonical Allele Identifier: CA436393887

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645861G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928074G>C , CM000665.2:g.150928074G>C	GRCh38
NC_000003.11:g.150645861G>C , CM000665.1:g.150645861G>C	GRCh37
NC_000003.10:g.152128551G>C	NCBI36
NG_009168.1:g.49926C>G , LRG_700:g.49926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.561C>G MANE Select	ENSP00000322280.1:p.Thr187=
ENST00000468836.2:c.709C>G	ENSP00000419892.2:n.709C>G
ENST00000295911.6:c.333C>G	ENSP00000295911.2:p.Thr111=
ENST00000327047.5:c.561C>G	ENSP00000322280.1:p.Thr187=
ENST00000328863.8:c.600C>G	ENSP00000329158.4:p.Thr200=
ENST00000468836.1:c.333C>G	ENSP00000419892.1:p.Thr111=
ENST00000562308.5:c.104+13508C>G
ENST00000565169.1:c.162+13508C>G
ENST00000569170.5:c.162+13508C>G
NM_001195794.1:c.600C>G , LRG_700t1:c.600C>G	NP_001182723.1:p.Thr200=
NM_001256819.1:c.*175C>G	NP_001243748.1:n.*175C>G
NM_052995.2:c.333C>G , LRG_700t2:c.333C>G	NP_443721.1:p.Thr111=
NM_174878.2:c.561C>G	NP_777367.1:p.Thr187=
NR_046380.2:n.1042C>G
XR_924167.1:n.873C>G
NM_001256819.2:c.*175C>G	NP_001243748.1:n.*175C>G
NM_174878.3:c.561C>G MANE Select	NP_777367.1:p.Thr187=
NR_046380.3:n.770C>G