Canonical Allele Identifier: CA10385110

Gene: RPGR

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38276604C>G , CM000685.2:g.38276604C>G	GRCh38
NC_000023.10:g.38135857C>G , CM000685.1:g.38135857C>G	GRCh37
NC_000023.9:g.38020801C>G	NCBI36
NG_009553.1:g.55932G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000328.2:c.2074G>C	NP_000319.1:p.Ala692Pro
NM_000328.3:c.2074G>C	NP_000319.1:p.Ala692Pro
NM_001367245.1:c.2071G>C	NP_001354174.1:p.Ala691Pro
NM_001367246.1:c.1888G>C	NP_001354175.1:p.Ala630Pro
NM_001367247.1:c.1741G>C	NP_001354176.1:p.Ala581Pro
NM_001367248.1:c.1771G>C	NP_001354177.1:p.Ala591Pro
NM_001367249.1:c.1738G>C	NP_001354178.1:p.Ala580Pro
NM_001367250.1:c.1738G>C	NP_001354179.1:p.Ala580Pro
NM_001367251.1:c.1555G>C	NP_001354180.1:p.Ala519Pro
NR_159803.1:n.2432G>C
NR_159804.1:n.1817G>C
NR_159805.1:n.1883G>C
NR_159806.1:n.2035G>C
NR_159807.1:n.1791G>C
NR_159808.1:n.1995G>C
ENST00000318842.11:c.2074G>C	ENSP00000322219.6:p.Ala692Pro
ENST00000339363.7:c.2689G>C	ENSP00000343671.3:p.Ala897Pro
ENST00000465127.1:c.172-389517C>G	ENSP00000417050.1:n.172-389517C>G
ENST00000474584.5:c.*206G>C	ENSP00000418926.1:n.*206G>C
ENST00000482855.5:c.*172G>C	ENSP00000419276.1:n.*172G>C
ENST00000494707.5:c.308G>C
ENST00000494707.6:c.1122G>C
ENST00000642170.1:n.1995G>C
ENST00000642395.2:c.2074G>C	ENSP00000493468.2:p.Ala692Pro
ENST00000642739.1:c.1741G>C	ENSP00000493596.1:p.Ala581Pro
ENST00000644238.1:c.1555G>C	ENSP00000496728.1:p.Ala519Pro
ENST00000644337.1:c.1888G>C	ENSP00000494557.1:p.Ala630Pro
ENST00000645124.1:c.*270G>C	ENSP00000496446.1:n.*270G>C
ENST00000646020.1:c.*763G>C	ENSP00000494745.1:n.*763G>C
XM_005272633.1:c.1741G>C	XP_005272690.1:p.Ala581Pro
XM_005272633.3:c.1741G>C	XP_005272690.1:p.Ala581Pro
XM_011543940.1:c.2071G>C	XP_011542242.1:p.Ala691Pro
XM_011543940.3:c.2071G>C	XP_011542242.1:p.Ala691Pro
XM_017029712.2:c.1738G>C	XP_016885201.1:p.Ala580Pro