Canonical Allele Identifier: CA5581332

Gene: RGR

Linked Data

• ClinVar Variation Id: 374663
• ClinVar RCV Id: RCV000416255
• dbSNP Id: rs761126266
• ExAC: 10:86007497 T / G
• gnomAD v2: 10-86007497-T-G
• gnomAD v4: 10-84247741-T-G
• MyVariant Identifiers: chr10:g.86007497T>G (hg19) ; chr10:g.84247741T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247741T>G , CM000672.2:g.84247741T>G	GRCh38
NC_000010.10:g.86007497T>G , CM000672.1:g.86007497T>G	GRCh37
NC_000010.9:g.85997477T>G	NCBI36
NG_009106.1:g.7689T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.230T>G	ENSP00000350823.5:p.Leu77Arg
ENST00000359452.9:c.230T>G	ENSP00000352427.4:p.Leu77Arg
ENST00000478727.6:c.*301T>G	ENSP00000498966.1:n.*301T>G
ENST00000483744.6:c.230T>G	ENSP00000498992.1:p.Leu77Arg
ENST00000650682.1:c.-308T>G	ENSP00000498223.1:n.-308T>G
ENST00000650774.1:c.180T>G	ENSP00000498908.1:p.Pro60=
ENST00000651155.1:c.230T>G	ENSP00000499193.1:p.Leu77Arg
ENST00000651237.1:c.-308T>G	ENSP00000498404.1:n.-308T>G
ENST00000652073.1:c.-308T>G	ENSP00000498800.1:n.-308T>G
ENST00000652092.2:c.230T>G MANE Select	ENSP00000498299.1:p.Leu77Arg
ENST00000652122.1:c.230T>G	ENSP00000498917.1:p.Leu77Arg
ENST00000652310.1:c.*158T>G	ENSP00000498927.1:n.*158T>G
ENST00000358110.6:c.230T>G	ENSP00000350823.5:p.Leu77Arg
ENST00000359452.8:c.230T>G	ENSP00000352427.4:p.Leu77Arg
ENST00000372092.3:c.180T>G	ENSP00000361164.3:p.Pro60=
ENST00000469446.5:n.268T>G
ENST00000478727.5:n.268T>G
ENST00000483660.5:n.108-1181T>G
ENST00000483744.5:n.37T>G
ENST00000483771.5:n.182T>G
NM_001012720.1:c.230T>G	NP_001012738.1:p.Leu77Arg
NM_001012722.1:c.230T>G	NP_001012740.1:p.Leu77Arg
NM_002921.3:c.230T>G	NP_002912.2:p.Leu77Arg
XM_011540028.1:c.257T>G	XP_011538330.1:p.Leu86Arg
XM_024448118.1:c.230T>G	XP_024303886.1:p.Leu77Arg
XR_002957005.1:n.1580T>G
NM_001012720.2:c.230T>G MANE Select	NP_001012738.1:p.Leu77Arg
NM_001012722.2:c.230T>G	NP_001012740.1:p.Leu77Arg
NM_002921.4:c.230T>G	NP_002912.2:p.Leu77Arg