Canonical Allele Identifier: CA5581540

Gene: RGR

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84257928C>T , CM000672.2:g.84257928C>T	GRCh38
NC_000010.10:g.86017684C>T , CM000672.1:g.86017684C>T	GRCh37
NC_000010.9:g.86007664C>T	NCBI36
NG_009106.1:g.17876C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001012720.2:c.666C>T MANE Select	NP_001012738.1:p.Leu222=
ENST00000652092.2:c.666C>T MANE Select	ENSP00000498299.1:p.Leu222=
NM_001012720.1:c.666C>T	NP_001012738.1:p.Leu222=
NM_001012722.1:c.631-580C>T	NP_001012740.1:n.631-580C>T
NM_001012722.2:c.631-580C>T	NP_001012740.1:n.631-580C>T
NM_002921.3:c.678C>T	NP_002912.2:p.Leu226=
NM_002921.4:c.678C>T	NP_002912.2:p.Leu226=
ENST00000358110.6:c.631-580C>T	ENSP00000350823.5:n.631-580C>T
ENST00000358110.7:c.631-580C>T	ENSP00000350823.5:n.631-580C>T
ENST00000359452.8:c.678C>T	ENSP00000352427.4:p.Leu226=
ENST00000359452.9:c.678C>T	ENSP00000352427.4:p.Leu226=
ENST00000478727.5:n.669-580C>T
ENST00000478727.6:c.*702-580C>T	ENSP00000498966.1:n.*702-580C>T
ENST00000479725.1:n.261C>T
ENST00000483660.5:n.537C>T
ENST00000483771.5:n.1792C>T
ENST00000650682.1:c.94-580C>T	ENSP00000498223.1:n.94-580C>T
ENST00000650774.1:c.*269-580C>T	ENSP00000498908.1:n.*269-580C>T
ENST00000651155.1:c.*276C>T	ENSP00000499193.1:n.*276C>T
ENST00000651237.1:c.129C>T	ENSP00000498404.1:p.Leu43=
ENST00000652073.1:c.129C>T	ENSP00000498800.1:p.Leu43=
ENST00000652122.1:c.723C>T	ENSP00000498917.1:p.Leu241=
ENST00000652310.1:c.*852C>T	ENSP00000498927.1:n.*852C>T
XM_011540028.1:c.658-580C>T	XP_011538330.1:n.658-580C>T
XR_002957005.1:n.2274C>T