Canonical Allele Identifier: CA377390872

Gene: RGR

Linked Data

• MyVariant Identifiers: chr10:g.86007467T>G (hg19) ; chr10:g.84247711T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247711T>G , CM000672.2:g.84247711T>G	GRCh38
NC_000010.10:g.86007467T>G , CM000672.1:g.86007467T>G	GRCh37
NC_000010.9:g.85997447T>G	NCBI36
NG_009106.1:g.7659T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358110.7:c.200T>G	ENSP00000350823.5:p.Leu67Arg
ENST00000359452.9:c.200T>G	ENSP00000352427.4:p.Leu67Arg
ENST00000478727.6:c.*271T>G	ENSP00000498966.1:n.*271T>G
ENST00000483744.6:c.200T>G	ENSP00000498992.1:p.Leu67Arg
ENST00000650682.1:c.-338T>G	ENSP00000498223.1:n.-338T>G
ENST00000650774.1:c.150T>G	ENSP00000498908.1:p.Pro50=
ENST00000651155.1:c.200T>G	ENSP00000499193.1:p.Leu67Arg
ENST00000651237.1:c.-338T>G	ENSP00000498404.1:n.-338T>G
ENST00000652073.1:c.-338T>G	ENSP00000498800.1:n.-338T>G
ENST00000652092.2:c.200T>G MANE Select	ENSP00000498299.1:p.Leu67Arg
ENST00000652122.1:c.200T>G	ENSP00000498917.1:p.Leu67Arg
ENST00000652310.1:c.*128T>G	ENSP00000498927.1:n.*128T>G
ENST00000358110.6:c.200T>G	ENSP00000350823.5:p.Leu67Arg
ENST00000359452.8:c.200T>G	ENSP00000352427.4:p.Leu67Arg
ENST00000372092.3:c.150T>G	ENSP00000361164.3:p.Pro50=
ENST00000469446.5:n.238T>G
ENST00000478727.5:n.238T>G
ENST00000483660.5:n.108-1211T>G
ENST00000483744.5:n.7T>G
ENST00000483771.5:n.152T>G
NM_001012720.1:c.200T>G	NP_001012738.1:p.Leu67Arg
NM_001012722.1:c.200T>G	NP_001012740.1:p.Leu67Arg
NM_002921.3:c.200T>G	NP_002912.2:p.Leu67Arg
XM_011540028.1:c.227T>G	XP_011538330.1:p.Leu76Arg
XM_024448118.1:c.200T>G	XP_024303886.1:p.Leu67Arg
XR_002957005.1:n.1550T>G
NM_001012720.2:c.200T>G MANE Select	NP_001012738.1:p.Leu67Arg
NM_001012722.2:c.200T>G	NP_001012740.1:p.Leu67Arg
NM_002921.4:c.200T>G	NP_002912.2:p.Leu67Arg