Canonical Allele Identifier: CA436402997

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690316T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972529T>C , CM000665.2:g.150972529T>C	GRCh38
NC_000003.11:g.150690316T>C , CM000665.1:g.150690316T>C	GRCh37
NC_000003.10:g.152173006T>C	NCBI36
NG_009168.1:g.5471A>G , LRG_700:g.5471A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.180A>G MANE Select	ENSP00000322280.1:p.Glu60=
ENST00000468836.2:c.156A>G	ENSP00000419892.2:p.Glu52=
ENST00000644099.1:c.21A>G	ENSP00000494762.1:p.Glu7=
ENST00000645441.1:c.22A>G
ENST00000327047.5:c.180A>G	ENSP00000322280.1:p.Glu60=
ENST00000328863.8:c.180A>G	ENSP00000329158.4:p.Glu60=
ENST00000468836.1:c.-221A>G	ENSP00000419892.1:n.-221A>G
ENST00000472224.1:n.186A>G
NM_001195794.1:c.180A>G , LRG_700t1:c.180A>G	NP_001182723.1:p.Glu60=
NM_001256819.1:c.180A>G	NP_001243748.1:p.Glu60=
NM_174878.2:c.180A>G	NP_777367.1:p.Glu60=
NR_046380.2:n.471A>G
XR_924167.1:n.492A>G
NM_001256819.2:c.180A>G	NP_001243748.1:p.Glu60=
NM_174878.3:c.180A>G MANE Select	NP_777367.1:p.Glu60=
NR_046380.3:n.199A>G