Canonical Allele Identifier: CA120805
Gene: RPGR HGNC NCBI

Linked Data

ClinVar Variation Id: 9916
ClinVar RCV Id: RCV003128227 RCV003151715
dbSNP Id: rs137852550
MyVariant Identifiers: chrX:g.38176671C>G (hg19) chrX:g.38317418C>G (hg38)
PubMed: PMID:14627685
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38317418C>G , CM000685.2:g.38317418C>G GRCh38
NC_000023.10:g.38176671C>G , CM000685.1:g.38176671C>G GRCh37
NC_000023.9:g.38061615C>G NCBI36
NG_009553.1:g.15118G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642170.1:n.927G>C
ENST00000642373.1:c.*96G>C ENSP00000496030.1:n.*96G>C
ENST00000642395.2:c.517G>C ENSP00000493468.2:p.Gly173Arg
ENST00000642558.1:c.424G>C ENSP00000496427.1:p.Gly142Arg
ENST00000642739.1:c.517G>C ENSP00000493596.1:p.Gly173Arg
ENST00000644238.1:c.517G>C ENSP00000496728.1:p.Gly173Arg
ENST00000644337.1:c.517G>C ENSP00000494557.1:p.Gly173Arg
ENST00000645032.1:c.517G>C MANE Select ENSP00000495537.1:p.Gly173Arg
ENST00000645124.1:c.517G>C ENSP00000496446.1:p.Gly173Arg
ENST00000646020.1:c.517G>C ENSP00000494745.1:p.Gly173Arg
ENST00000647261.1:c.517G>C ENSP00000493681.1:p.Gly173Arg
ENST00000318842.11:c.517G>C ENSP00000322219.6:p.Gly173Arg
ENST00000339363.7:c.517G>C ENSP00000343671.3:p.Gly173Arg
ENST00000378505.6:c.517G>C ENSP00000367766.2:p.Gly173Arg
ENST00000465127.1:c.172-348703C>G ENSP00000417050.1:n.172-348703C>G
ENST00000470183.1:n.210G>C
ENST00000474584.5:c.517G>C ENSP00000418926.1:p.Gly173Arg
ENST00000482855.5:c.517G>C ENSP00000419276.1:p.Gly173Arg
NM_000328.2:c.517G>C NP_000319.1:p.Gly173Arg
NM_001034853.1:c.517G>C NP_001030025.1:p.Gly173Arg
XM_005272633.1:c.517G>C XP_005272690.1:p.Gly173Arg
XM_011543940.1:c.517G>C XP_011542242.1:p.Gly173Arg
XM_005272633.3:c.517G>C XP_005272690.1:p.Gly173Arg
XM_011543940.3:c.517G>C XP_011542242.1:p.Gly173Arg
XM_017029712.2:c.517G>C XP_016885201.1:p.Gly173Arg
NM_001367245.1:c.517G>C NP_001354174.1:p.Gly173Arg
NM_001367246.1:c.517G>C NP_001354175.1:p.Gly173Arg
NM_001367247.1:c.517G>C NP_001354176.1:p.Gly173Arg
NM_001367248.1:c.547G>C NP_001354177.1:p.Gly183Arg
NM_001367249.1:c.514G>C NP_001354178.1:p.Gly172Arg
NM_001367250.1:c.517G>C NP_001354179.1:p.Gly173Arg
NM_001367251.1:c.517G>C NP_001354180.1:p.Gly173Arg
NR_159803.1:n.659G>C
NR_159804.1:n.659G>C
NR_159805.1:n.659G>C
NR_159806.1:n.659G>C
NR_159807.1:n.659G>C
NR_159808.1:n.927G>C
NM_000328.3:c.517G>C NP_000319.1:p.Gly173Arg
NM_001034853.2:c.517G>C MANE Select NP_001030025.1:p.Gly173Arg
Search 100 bp 5'
Search 100 bp 3'