Canonical Allele Identifier: CA2666099

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941745G>C , CM000665.2:g.150941745G>C	GRCh38
NC_000003.11:g.150659532G>C , CM000665.1:g.150659532G>C	GRCh37
NC_000003.10:g.152142222G>C	NCBI36
NG_009168.1:g.36255C>G , LRG_700:g.36255C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.270C>G MANE Select	NP_777367.1:p.Leu90=
ENST00000327047.6:c.270C>G MANE Select	ENSP00000322280.1:p.Leu90=
NM_001195794.1:c.270C>G , LRG_700t1:c.270C>G	NP_001182723.1:p.Leu90=
NM_001256819.1:c.442C>G	NP_001243748.1:p.Gln148Glu
NM_001256819.2:c.442C>G	NP_001243748.1:p.Gln148Glu
NM_052995.2:c.42C>G , LRG_700t2:c.42C>G	NP_443721.1:p.Leu14=
NM_174878.2:c.270C>G	NP_777367.1:p.Leu90=
NR_046380.2:n.712C>G
NR_046380.3:n.440C>G
ENST00000295911.6:c.42C>G	ENSP00000295911.2:p.Leu14=
ENST00000327047.5:c.270C>G	ENSP00000322280.1:p.Leu90=
ENST00000328863.8:c.270C>G	ENSP00000329158.4:p.Leu90=
ENST00000468836.1:c.42C>G	ENSP00000419892.1:p.Leu14=
ENST00000468836.2:c.418C>G	ENSP00000419892.2:p.Gln140Glu
ENST00000472224.1:n.276C>G
ENST00000485607.1:c.-67C>G	ENSP00000419244.1:n.-67C>G
ENST00000644099.1:c.262C>G	ENSP00000494762.1:n.262C>G
XR_924167.1:n.582C>G