Canonical Allele Identifier: CA355011889

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690316T>G (hg19) ; chr3:g.150972529T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.180A>C MANE Select	ENSP00000322280.1:p.Glu60Asp
ENST00000468836.2:c.156A>C	ENSP00000419892.2:p.Glu52Asp
ENST00000644099.1:c.21A>C	ENSP00000494762.1:p.Glu7Asp
ENST00000645441.1:c.22A>C
ENST00000327047.5:c.180A>C	ENSP00000322280.1:p.Glu60Asp
ENST00000328863.8:c.180A>C	ENSP00000329158.4:p.Glu60Asp
ENST00000468836.1:c.-221A>C	ENSP00000419892.1:n.-221A>C
ENST00000472224.1:n.186A>C
NM_001195794.1:c.180A>C , LRG_700t1:c.180A>C	NP_001182723.1:p.Glu60Asp
NM_001256819.1:c.180A>C	NP_001243748.1:p.Glu60Asp
NM_174878.2:c.180A>C	NP_777367.1:p.Glu60Asp
NR_046380.2:n.471A>C
XR_924167.1:n.492A>C
NM_001256819.2:c.180A>C	NP_001243748.1:p.Glu60Asp
NM_174878.3:c.180A>C MANE Select	NP_777367.1:p.Glu60Asp
NR_046380.3:n.199A>C