Canonical Allele Identifier: CA377390873

Gene: RGR

Linked Data

• ClinVar Variation Id: 2801250
• ClinVar RCV Id: RCV003674014
• dbSNP Id: rs372829444
• MyVariant Identifiers: chr10:g.86007468G>C (hg19) ; chr10:g.84247712G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247712G>C , CM000672.2:g.84247712G>C	GRCh38
NC_000010.10:g.86007468G>C , CM000672.1:g.86007468G>C	GRCh37
NC_000010.9:g.85997448G>C	NCBI36
NG_009106.1:g.7660G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358110.7:c.201G>C	ENSP00000350823.5:p.Leu67=
ENST00000359452.9:c.201G>C	ENSP00000352427.4:p.Leu67=
ENST00000478727.6:c.*272G>C	ENSP00000498966.1:n.*272G>C
ENST00000483744.6:c.201G>C	ENSP00000498992.1:p.Leu67=
ENST00000650682.1:c.-337G>C	ENSP00000498223.1:n.-337G>C
ENST00000650774.1:c.151G>C	ENSP00000498908.1:p.Glu51Gln
ENST00000651155.1:c.201G>C	ENSP00000499193.1:p.Leu67=
ENST00000651237.1:c.-337G>C	ENSP00000498404.1:n.-337G>C
ENST00000652073.1:c.-337G>C	ENSP00000498800.1:n.-337G>C
ENST00000652092.2:c.201G>C MANE Select	ENSP00000498299.1:p.Leu67=
ENST00000652122.1:c.201G>C	ENSP00000498917.1:p.Leu67=
ENST00000652310.1:c.*129G>C	ENSP00000498927.1:n.*129G>C
ENST00000358110.6:c.201G>C	ENSP00000350823.5:p.Leu67=
ENST00000359452.8:c.201G>C	ENSP00000352427.4:p.Leu67=
ENST00000372092.3:c.151G>C	ENSP00000361164.3:p.Glu51Gln
ENST00000469446.5:n.239G>C
ENST00000478727.5:n.239G>C
ENST00000483660.5:n.108-1210G>C
ENST00000483744.5:n.8G>C
ENST00000483771.5:n.153G>C
NM_001012720.1:c.201G>C	NP_001012738.1:p.Leu67=
NM_001012722.1:c.201G>C	NP_001012740.1:p.Leu67=
NM_002921.3:c.201G>C	NP_002912.2:p.Leu67=
XM_011540028.1:c.228G>C	XP_011538330.1:p.Leu76=
XM_024448118.1:c.201G>C	XP_024303886.1:p.Leu67=
XR_002957005.1:n.1551G>C
NM_001012720.2:c.201G>C MANE Select	NP_001012738.1:p.Leu67=
NM_001012722.2:c.201G>C	NP_001012740.1:p.Leu67=
NM_002921.4:c.201G>C	NP_002912.2:p.Leu67=