Canonical Allele Identifier: CA355011790

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690272C>T (hg19) ; chr3:g.150972485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972485C>T , CM000665.2:g.150972485C>T	GRCh38
NC_000003.11:g.150690272C>T , CM000665.1:g.150690272C>T	GRCh37
NC_000003.10:g.152172962C>T	NCBI36
NG_009168.1:g.5515G>A , LRG_700:g.5515G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.224G>A MANE Select	ENSP00000322280.1:p.Gly75Glu
ENST00000468836.2:c.200G>A	ENSP00000419892.2:p.Gly67Glu
ENST00000644099.1:c.65G>A	ENSP00000494762.1:p.Gly22Glu
ENST00000645441.1:c.66G>A
ENST00000327047.5:c.224G>A	ENSP00000322280.1:p.Gly75Glu
ENST00000328863.8:c.224G>A	ENSP00000329158.4:p.Gly75Glu
ENST00000468836.1:c.-177G>A	ENSP00000419892.1:n.-177G>A
ENST00000472224.1:n.230G>A
NM_001195794.1:c.224G>A , LRG_700t1:c.224G>A	NP_001182723.1:p.Gly75Glu
NM_001256819.1:c.224G>A	NP_001243748.1:p.Gly75Glu
NM_174878.2:c.224G>A	NP_777367.1:p.Gly75Glu
NR_046380.2:n.515G>A
XR_924167.1:n.536G>A
NM_001256819.2:c.224G>A	NP_001243748.1:p.Gly75Glu
NM_174878.3:c.224G>A MANE Select	NP_777367.1:p.Gly75Glu
NR_046380.3:n.243G>A