Canonical Allele Identifier: CA377390608

Gene: RGR

Linked Data

• MyVariant Identifiers: chr10:g.86007364C>G (hg19) ; chr10:g.84247608C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247608C>G , CM000672.2:g.84247608C>G	GRCh38
NC_000010.10:g.86007364C>G , CM000672.1:g.86007364C>G	GRCh37
NC_000010.9:g.85997344C>G	NCBI36
NG_009106.1:g.7556C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358110.7:c.97C>G	ENSP00000350823.5:p.Leu33Val
ENST00000359452.9:c.97C>G	ENSP00000352427.4:p.Leu33Val
ENST00000478727.6:c.*168C>G	ENSP00000498966.1:n.*168C>G
ENST00000483744.6:c.97C>G	ENSP00000498992.1:p.Leu33Val
ENST00000650682.1:c.-441C>G	ENSP00000498223.1:n.-441C>G
ENST00000650774.1:c.80-33C>G	ENSP00000498908.1:n.80-33C>G
ENST00000651155.1:c.97C>G	ENSP00000499193.1:p.Leu33Val
ENST00000651237.1:c.-441C>G	ENSP00000498404.1:n.-441C>G
ENST00000652073.1:c.-441C>G	ENSP00000498800.1:n.-441C>G
ENST00000652092.2:c.97C>G MANE Select	ENSP00000498299.1:p.Leu33Val
ENST00000652122.1:c.97C>G	ENSP00000498917.1:p.Leu33Val
ENST00000652310.1:c.*58-33C>G	ENSP00000498927.1:n.*58-33C>G
ENST00000358110.6:c.97C>G	ENSP00000350823.5:p.Leu33Val
ENST00000359452.8:c.97C>G	ENSP00000352427.4:p.Leu33Val
ENST00000372092.3:c.80-33C>G	ENSP00000361164.3:n.80-33C>G
ENST00000469446.5:n.135C>G
ENST00000478727.5:n.135C>G
ENST00000483660.5:n.108-1314C>G
ENST00000483771.5:n.82-33C>G
NM_001012720.1:c.97C>G	NP_001012738.1:p.Leu33Val
NM_001012722.1:c.97C>G	NP_001012740.1:p.Leu33Val
NM_002921.3:c.97C>G	NP_002912.2:p.Leu33Val
XM_011540028.1:c.124C>G	XP_011538330.1:p.Leu42Val
XM_024448118.1:c.97C>G	XP_024303886.1:p.Leu33Val
XR_002957005.1:n.1447C>G
NM_001012720.2:c.97C>G MANE Select	NP_001012738.1:p.Leu33Val
NM_001012722.2:c.97C>G	NP_001012740.1:p.Leu33Val
NM_002921.4:c.97C>G	NP_002912.2:p.Leu33Val