Canonical Allele Identifier: CA5581310

Gene: RGR

Linked Data

• ClinVar Variation Id: 1491747
• ClinVar RCV Id: RCV002010147 ; RCV003888978
• dbSNP Id: rs774849552
• ExAC: 10:86007377 C / T
• gnomAD v2: 10-86007377-C-T
• gnomAD v3: 10-84247621-C-T
• gnomAD v4: 10-84247621-C-T
• MyVariant Identifiers: chr10:g.86007377C>T (hg19) ; chr10:g.84247621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247621C>T , CM000672.2:g.84247621C>T	GRCh38
NC_000010.10:g.86007377C>T , CM000672.1:g.86007377C>T	GRCh37
NC_000010.9:g.85997357C>T	NCBI36
NG_009106.1:g.7569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.110C>T	ENSP00000350823.5:p.Thr37Ile
ENST00000359452.9:c.110C>T	ENSP00000352427.4:p.Thr37Ile
ENST00000478727.6:c.*181C>T	ENSP00000498966.1:n.*181C>T
ENST00000483744.6:c.110C>T	ENSP00000498992.1:p.Thr37Ile
ENST00000650682.1:c.-428C>T	ENSP00000498223.1:n.-428C>T
ENST00000650774.1:c.80-20C>T	ENSP00000498908.1:n.80-20C>T
ENST00000651155.1:c.110C>T	ENSP00000499193.1:p.Thr37Ile
ENST00000651237.1:c.-428C>T	ENSP00000498404.1:n.-428C>T
ENST00000652073.1:c.-428C>T	ENSP00000498800.1:n.-428C>T
ENST00000652092.2:c.110C>T MANE Select	ENSP00000498299.1:p.Thr37Ile
ENST00000652122.1:c.110C>T	ENSP00000498917.1:p.Thr37Ile
ENST00000652310.1:c.*58-20C>T	ENSP00000498927.1:n.*58-20C>T
ENST00000358110.6:c.110C>T	ENSP00000350823.5:p.Thr37Ile
ENST00000359452.8:c.110C>T	ENSP00000352427.4:p.Thr37Ile
ENST00000372092.3:c.80-20C>T	ENSP00000361164.3:n.80-20C>T
ENST00000469446.5:n.148C>T
ENST00000478727.5:n.148C>T
ENST00000483660.5:n.108-1301C>T
ENST00000483771.5:n.82-20C>T
NM_001012720.1:c.110C>T	NP_001012738.1:p.Thr37Ile
NM_001012722.1:c.110C>T	NP_001012740.1:p.Thr37Ile
NM_002921.3:c.110C>T	NP_002912.2:p.Thr37Ile
XM_011540028.1:c.137C>T	XP_011538330.1:p.Thr46Ile
XM_024448118.1:c.110C>T	XP_024303886.1:p.Thr37Ile
XR_002957005.1:n.1460C>T
NM_001012720.2:c.110C>T MANE Select	NP_001012738.1:p.Thr37Ile
NM_001012722.2:c.110C>T	NP_001012740.1:p.Thr37Ile
NM_002921.4:c.110C>T	NP_002912.2:p.Thr37Ile