Canonical Allele Identifier: CA226381
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38276598T>A , CM000685.2:g.38276598T>A GRCh38
NC_000023.10:g.38135851T>A , CM000685.1:g.38135851T>A GRCh37
NC_000023.9:g.38020795T>A NCBI36
NG_009553.1:g.55938A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.1128A>T
ENST00000642170.1:n.2001A>T
ENST00000642395.2:c.2080A>T ENSP00000493468.2:p.Thr694Ser
ENST00000642739.1:c.1747A>T ENSP00000493596.1:p.Thr583Ser
ENST00000644238.1:c.1561A>T ENSP00000496728.1:p.Thr521Ser
ENST00000644337.1:c.1894A>T ENSP00000494557.1:p.Thr632Ser
ENST00000645124.1:c.*276A>T ENSP00000496446.1:n.*276A>T
ENST00000646020.1:c.*769A>T ENSP00000494745.1:n.*769A>T
ENST00000318842.11:c.2080A>T ENSP00000322219.6:p.Thr694Ser
ENST00000339363.7:c.2695A>T ENSP00000343671.3:p.Thr899Ser
ENST00000465127.1:c.172-389523T>A ENSP00000417050.1:n.172-389523T>A
ENST00000474584.5:c.*212A>T ENSP00000418926.1:n.*212A>T
ENST00000482855.5:c.*178A>T ENSP00000419276.1:n.*178A>T
ENST00000494707.5:c.314A>T
NM_000328.2:c.2080A>T NP_000319.1:p.Thr694Ser
XM_005272633.1:c.1747A>T XP_005272690.1:p.Thr583Ser
XM_011543940.1:c.2077A>T XP_011542242.1:p.Thr693Ser
XM_005272633.3:c.1747A>T XP_005272690.1:p.Thr583Ser
XM_011543940.3:c.2077A>T XP_011542242.1:p.Thr693Ser
XM_017029712.2:c.1744A>T XP_016885201.1:p.Thr582Ser
NM_001367245.1:c.2077A>T NP_001354174.1:p.Thr693Ser
NM_001367246.1:c.1894A>T NP_001354175.1:p.Thr632Ser
NM_001367247.1:c.1747A>T NP_001354176.1:p.Thr583Ser
NM_001367248.1:c.1777A>T NP_001354177.1:p.Thr593Ser
NM_001367249.1:c.1744A>T NP_001354178.1:p.Thr582Ser
NM_001367250.1:c.1744A>T NP_001354179.1:p.Thr582Ser
NM_001367251.1:c.1561A>T NP_001354180.1:p.Thr521Ser
NR_159803.1:n.2438A>T
NR_159804.1:n.1823A>T
NR_159805.1:n.1889A>T
NR_159806.1:n.2041A>T
NR_159807.1:n.1797A>T
NR_159808.1:n.2001A>T
NM_000328.3:c.2080A>T NP_000319.1:p.Thr694Ser