Canonical Allele Identifier: CA377390851

Gene: RGR

Linked Data

• MyVariant Identifiers: chr10:g.86007460A>C (hg19) ; chr10:g.84247704A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247704A>C , CM000672.2:g.84247704A>C	GRCh38
NC_000010.10:g.86007460A>C , CM000672.1:g.86007460A>C	GRCh37
NC_000010.9:g.85997440A>C	NCBI36
NG_009106.1:g.7652A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.193A>C	ENSP00000350823.5:p.Ile65Leu
ENST00000359452.9:c.193A>C	ENSP00000352427.4:p.Ile65Leu
ENST00000478727.6:c.*264A>C	ENSP00000498966.1:n.*264A>C
ENST00000483744.6:c.193A>C	ENSP00000498992.1:p.Ile65Leu
ENST00000650682.1:c.-345A>C	ENSP00000498223.1:n.-345A>C
ENST00000650774.1:c.143A>C	ENSP00000498908.1:p.Asp48Ala
ENST00000651155.1:c.193A>C	ENSP00000499193.1:p.Ile65Leu
ENST00000651237.1:c.-345A>C	ENSP00000498404.1:n.-345A>C
ENST00000652073.1:c.-345A>C	ENSP00000498800.1:n.-345A>C
ENST00000652092.2:c.193A>C MANE Select	ENSP00000498299.1:p.Ile65Leu
ENST00000652122.1:c.193A>C	ENSP00000498917.1:p.Ile65Leu
ENST00000652310.1:c.*121A>C	ENSP00000498927.1:n.*121A>C
ENST00000358110.6:c.193A>C	ENSP00000350823.5:p.Ile65Leu
ENST00000359452.8:c.193A>C	ENSP00000352427.4:p.Ile65Leu
ENST00000372092.3:c.143A>C	ENSP00000361164.3:p.Asp48Ala
ENST00000469446.5:n.231A>C
ENST00000478727.5:n.231A>C
ENST00000483660.5:n.108-1218A>C
ENST00000483771.5:n.145A>C
NM_001012720.1:c.193A>C	NP_001012738.1:p.Ile65Leu
NM_001012722.1:c.193A>C	NP_001012740.1:p.Ile65Leu
NM_002921.3:c.193A>C	NP_002912.2:p.Ile65Leu
XM_011540028.1:c.220A>C	XP_011538330.1:p.Ile74Leu
XM_024448118.1:c.193A>C	XP_024303886.1:p.Ile65Leu
XR_002957005.1:n.1543A>C
NM_001012720.2:c.193A>C MANE Select	NP_001012738.1:p.Ile65Leu
NM_001012722.2:c.193A>C	NP_001012740.1:p.Ile65Leu
NM_002921.4:c.193A>C	NP_002912.2:p.Ile65Leu