Canonical Allele Identifier: CA645509440

Gene: RGR

Linked Data

• ClinVar Variation Id: 438065
• ClinVar RCV Id: RCV000505119
• dbSNP Id: rs1554824273
• MyVariant Identifiers: chr10:g.86018469dup (hg19) ; chr10:g.84258713dup (hg38)
• PubMed: PMID:10581022 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84258713dup , CM000672.2:g.84258713dup	GRCh38
NC_000010.10:g.86018469dup , CM000672.1:g.86018469dup	GRCh37
NC_000010.9:g.86008449dup	NCBI36
NG_009106.1:g.18661dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.*74dup	ENSP00000350823.5:n.*74dup
ENST00000359452.9:c.*74dup	ENSP00000352427.4:n.*74dup
ENST00000478727.6:c.*907dup	ENSP00000498966.1:n.*907dup
ENST00000650682.1:c.*74dup	ENSP00000498223.1:n.*74dup
ENST00000650774.1:c.*474dup	ENSP00000498908.1:n.*474dup
ENST00000651155.1:c.*560dup	ENSP00000499193.1:n.*560dup
ENST00000651237.1:c.*74dup	ENSP00000498404.1:n.*74dup
ENST00000652073.1:c.*74dup	ENSP00000498800.1:n.*74dup
ENST00000652092.2:c.*74dup MANE Select	ENSP00000498299.1:n.*74dup
ENST00000652122.1:c.*74dup	ENSP00000498917.1:n.*74dup
ENST00000652310.1:c.*1136dup	ENSP00000498927.1:n.*1136dup
ENST00000358110.6:c.*74dup	ENSP00000350823.5:n.*74dup
ENST00000359452.8:c.*74dup	ENSP00000352427.4:n.*74dup
ENST00000479725.1:n.545dup
ENST00000483771.5:n.2076dup
NM_001012720.1:c.*74dup	NP_001012738.1:n.*74dup
NM_001012722.1:c.*74dup	NP_001012740.1:n.*74dup
NM_002921.3:c.*74dup	NP_002912.2:n.*74dup
XM_011540028.1:c.*74dup	XP_011538330.1:n.*74dup
XR_002957005.1:n.2558dup
NM_001012720.2:c.*74dup MANE Select	NP_001012738.1:n.*74dup
NM_001012722.2:c.*74dup	NP_001012740.1:n.*74dup
NM_002921.4:c.*74dup	NP_002912.2:n.*74dup