Canonical Allele Identifier: CA354953074

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645871T>C (hg19) ; chr3:g.150928084T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928084T>C , CM000665.2:g.150928084T>C	GRCh38
NC_000003.11:g.150645871T>C , CM000665.1:g.150645871T>C	GRCh37
NC_000003.10:g.152128561T>C	NCBI36
NG_009168.1:g.49916A>G , LRG_700:g.49916A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.551A>G MANE Select	ENSP00000322280.1:p.Lys184Arg
ENST00000468836.2:c.699A>G	ENSP00000419892.2:n.699A>G
ENST00000295911.6:c.323A>G	ENSP00000295911.2:p.Lys108Arg
ENST00000327047.5:c.551A>G	ENSP00000322280.1:p.Lys184Arg
ENST00000328863.8:c.590A>G	ENSP00000329158.4:p.Lys197Arg
ENST00000468836.1:c.323A>G	ENSP00000419892.1:p.Lys108Arg
ENST00000562308.5:c.104+13498A>G
ENST00000565169.1:c.162+13498A>G
ENST00000569170.5:c.162+13498A>G
NM_001195794.1:c.590A>G , LRG_700t1:c.590A>G	NP_001182723.1:p.Lys197Arg
NM_001256819.1:c.*165A>G	NP_001243748.1:n.*165A>G
NM_052995.2:c.323A>G , LRG_700t2:c.323A>G	NP_443721.1:p.Lys108Arg
NM_174878.2:c.551A>G	NP_777367.1:p.Lys184Arg
NR_046380.2:n.1032A>G
XR_924167.1:n.863A>G
NM_001256819.2:c.*165A>G	NP_001243748.1:n.*165A>G
NM_174878.3:c.551A>G MANE Select	NP_777367.1:p.Lys184Arg
NR_046380.3:n.760A>G