Canonical Allele Identifier: CA412722394
Community Standard Title: NC_000023.11:g.38269815T>G
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38269815T>G , CM000685.2:g.38269815T>G GRCh38
NC_000023.10:g.38129068T>G , CM000685.1:g.38129068T>G GRCh37
NC_000023.9:g.38014012T>G NCBI36
NG_009553.1:g.62721A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000328.2:c.2259A>C NP_000319.1:p.Arg753Ser
NM_000328.3:c.2259A>C NP_000319.1:p.Arg753Ser
NM_001367245.1:c.2256A>C NP_001354174.1:p.Arg752Ser
NM_001367246.1:c.2073A>C NP_001354175.1:p.Arg691Ser
NM_001367247.1:c.1926A>C NP_001354176.1:p.Arg642Ser
NM_001367248.1:c.1956A>C NP_001354177.1:p.Arg652Ser
NM_001367249.1:c.1923A>C NP_001354178.1:p.Arg641Ser
NM_001367250.1:c.1923A>C NP_001354179.1:p.Arg641Ser
NM_001367251.1:c.1740A>C NP_001354180.1:p.Arg580Ser
NR_159803.1:n.2617A>C
NR_159804.1:n.2002A>C
NR_159805.1:n.2347A>C
NR_159806.1:n.2220A>C
NR_159807.1:n.1976A>C
NR_159808.1:n.2459A>C
ENST00000318842.11:c.2259A>C ENSP00000322219.6:p.Arg753Ser
ENST00000339363.7:c.2874A>C ENSP00000343671.3:p.Arg958Ser
ENST00000465127.1:c.172-396306T>G ENSP00000417050.1:n.172-396306T>G
ENST00000474584.5:c.*391A>C ENSP00000418926.1:n.*391A>C
ENST00000476559.2:n.575A>C
ENST00000482855.5:c.*357A>C ENSP00000419276.1:n.*357A>C
ENST00000642170.1:n.2459A>C
ENST00000642395.2:c.2259A>C ENSP00000493468.2:p.Arg753Ser
ENST00000642739.1:c.*183A>C ENSP00000493596.1:n.*183A>C
ENST00000644238.1:c.1740A>C ENSP00000496728.1:p.Arg580Ser
ENST00000644337.1:c.2073A>C ENSP00000494557.1:p.Arg691Ser
ENST00000645124.1:c.*455A>C ENSP00000496446.1:n.*455A>C
ENST00000646020.1:c.*948A>C ENSP00000494745.1:n.*948A>C
XM_005272633.1:c.1926A>C XP_005272690.1:p.Arg642Ser
XM_005272633.3:c.1926A>C XP_005272690.1:p.Arg642Ser
XM_011543940.1:c.2256A>C XP_011542242.1:p.Arg752Ser
XM_011543940.3:c.2256A>C XP_011542242.1:p.Arg752Ser
XM_017029712.2:c.1923A>C XP_016885201.1:p.Arg641Ser