Canonical Allele Identifier: CA436393906

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645870T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928083T>C , CM000665.2:g.150928083T>C	GRCh38
NC_000003.11:g.150645870T>C , CM000665.1:g.150645870T>C	GRCh37
NC_000003.10:g.152128560T>C	NCBI36
NG_009168.1:g.49917A>G , LRG_700:g.49917A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.552A>G MANE Select	ENSP00000322280.1:p.Lys184=
ENST00000468836.2:c.700A>G	ENSP00000419892.2:n.700A>G
ENST00000295911.6:c.324A>G	ENSP00000295911.2:p.Lys108=
ENST00000327047.5:c.552A>G	ENSP00000322280.1:p.Lys184=
ENST00000328863.8:c.591A>G	ENSP00000329158.4:p.Lys197=
ENST00000468836.1:c.324A>G	ENSP00000419892.1:p.Lys108=
ENST00000562308.5:c.104+13499A>G
ENST00000565169.1:c.162+13499A>G
ENST00000569170.5:c.162+13499A>G
NM_001195794.1:c.591A>G , LRG_700t1:c.591A>G	NP_001182723.1:p.Lys197=
NM_001256819.1:c.*166A>G	NP_001243748.1:n.*166A>G
NM_052995.2:c.324A>G , LRG_700t2:c.324A>G	NP_443721.1:p.Lys108=
NM_174878.2:c.552A>G	NP_777367.1:p.Lys184=
NR_046380.2:n.1033A>G
XR_924167.1:n.864A>G
NM_001256819.2:c.*166A>G	NP_001243748.1:n.*166A>G
NM_174878.3:c.552A>G MANE Select	NP_777367.1:p.Lys184=
NR_046380.3:n.761A>G