Canonical Allele Identifier: CA355011894

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690318C>G (hg19) ; chr3:g.150972531C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972531C>G , CM000665.2:g.150972531C>G	GRCh38
NC_000003.11:g.150690318C>G , CM000665.1:g.150690318C>G	GRCh37
NC_000003.10:g.152173008C>G	NCBI36
NG_009168.1:g.5469G>C , LRG_700:g.5469G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.178G>C MANE Select	ENSP00000322280.1:p.Glu60Gln
ENST00000468836.2:c.154G>C	ENSP00000419892.2:p.Glu52Gln
ENST00000644099.1:c.19G>C	ENSP00000494762.1:p.Glu7Gln
ENST00000645441.1:c.20G>C
ENST00000327047.5:c.178G>C	ENSP00000322280.1:p.Glu60Gln
ENST00000328863.8:c.178G>C	ENSP00000329158.4:p.Glu60Gln
ENST00000468836.1:c.-223G>C	ENSP00000419892.1:n.-223G>C
ENST00000472224.1:n.184G>C
NM_001195794.1:c.178G>C , LRG_700t1:c.178G>C	NP_001182723.1:p.Glu60Gln
NM_001256819.1:c.178G>C	NP_001243748.1:p.Glu60Gln
NM_174878.2:c.178G>C	NP_777367.1:p.Glu60Gln
NR_046380.2:n.469G>C
XR_924167.1:n.490G>C
NM_001256819.2:c.178G>C	NP_001243748.1:p.Glu60Gln
NM_174878.3:c.178G>C MANE Select	NP_777367.1:p.Glu60Gln
NR_046380.3:n.197G>C