Canonical Allele Identifier: CA640865472

Gene: RPGR

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38273381C>T , CM000685.2:g.38273381C>T	GRCh38
NC_000023.10:g.38132634C>T , CM000685.1:g.38132634C>T	GRCh37
NC_000023.9:g.38017578C>T	NCBI36
NG_009553.1:g.59155G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000328.2:c.2241+5G>A	NP_000319.1:n.2241+5G>A
NM_000328.3:c.2241+5G>A	NP_000319.1:n.2241+5G>A
NM_001367245.1:c.2238+5G>A	NP_001354174.1:n.2238+5G>A
NM_001367246.1:c.2055+5G>A	NP_001354175.1:n.2055+5G>A
NM_001367247.1:c.1908+5G>A	NP_001354176.1:n.1908+5G>A
NM_001367248.1:c.1938+5G>A	NP_001354177.1:n.1938+5G>A
NM_001367249.1:c.1905+5G>A	NP_001354178.1:n.1905+5G>A
NM_001367250.1:c.1905+5G>A	NP_001354179.1:n.1905+5G>A
NM_001367251.1:c.1722+5G>A	NP_001354180.1:n.1722+5G>A
NR_159803.1:n.2599+5G>A
NR_159804.1:n.1984+5G>A
NR_159805.1:n.2050+5G>A
NR_159806.1:n.2202+5G>A
NR_159807.1:n.1958+5G>A
NR_159808.1:n.2162+5G>A
ENST00000318842.11:c.2241+5G>A	ENSP00000322219.6:n.2241+5G>A
ENST00000339363.7:c.2856+5G>A	ENSP00000343671.3:n.2856+5G>A
ENST00000465127.1:c.172-392740C>T	ENSP00000417050.1:n.172-392740C>T
ENST00000474584.5:c.*373+5G>A	ENSP00000418926.1:n.*373+5G>A
ENST00000476559.2:n.557+5G>A
ENST00000482855.5:c.*339+5G>A	ENSP00000419276.1:n.*339+5G>A
ENST00000642170.1:n.2162+5G>A
ENST00000642395.2:c.2241+5G>A	ENSP00000493468.2:n.2241+5G>A
ENST00000642739.1:c.1908+5G>A	ENSP00000493596.1:n.1908+5G>A
ENST00000644238.1:c.1722+5G>A	ENSP00000496728.1:n.1722+5G>A
ENST00000644337.1:c.2055+5G>A	ENSP00000494557.1:n.2055+5G>A
ENST00000645124.1:c.*437+5G>A	ENSP00000496446.1:n.*437+5G>A
ENST00000646020.1:c.*930+5G>A	ENSP00000494745.1:n.*930+5G>A
XM_005272633.1:c.1908+5G>A	XP_005272690.1:n.1908+5G>A
XM_005272633.3:c.1908+5G>A	XP_005272690.1:n.1908+5G>A
XM_011543940.1:c.2238+5G>A	XP_011542242.1:n.2238+5G>A
XM_011543940.3:c.2238+5G>A	XP_011542242.1:n.2238+5G>A
XM_017029712.2:c.1905+5G>A	XP_016885201.1:n.1905+5G>A