Canonical Allele Identifier: CA515651569

Gene: RPGR

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38269809G>A , CM000685.2:g.38269809G>A	GRCh38
NC_000023.10:g.38129062G>A , CM000685.1:g.38129062G>A	GRCh37
NC_000023.9:g.38014006G>A	NCBI36
NG_009553.1:g.62727C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000328.2:c.2265C>T	NP_000319.1:p.Pro755=
NM_000328.3:c.2265C>T	NP_000319.1:p.Pro755=
NM_001367245.1:c.2262C>T	NP_001354174.1:p.Pro754=
NM_001367246.1:c.2079C>T	NP_001354175.1:p.Pro693=
NM_001367247.1:c.1932C>T	NP_001354176.1:p.Pro644=
NM_001367248.1:c.1962C>T	NP_001354177.1:p.Pro654=
NM_001367249.1:c.1929C>T	NP_001354178.1:p.Pro643=
NM_001367250.1:c.1929C>T	NP_001354179.1:p.Pro643=
NM_001367251.1:c.1746C>T	NP_001354180.1:p.Pro582=
NR_159803.1:n.2623C>T
NR_159804.1:n.2008C>T
NR_159805.1:n.2353C>T
NR_159806.1:n.2226C>T
NR_159807.1:n.1982C>T
NR_159808.1:n.2465C>T
ENST00000318842.11:c.2265C>T	ENSP00000322219.6:p.Pro755=
ENST00000339363.7:c.2880C>T	ENSP00000343671.3:p.Pro960=
ENST00000465127.1:c.172-396312G>A	ENSP00000417050.1:n.172-396312G>A
ENST00000474584.5:c.*397C>T	ENSP00000418926.1:n.*397C>T
ENST00000476559.2:n.581C>T
ENST00000482855.5:c.*363C>T	ENSP00000419276.1:n.*363C>T
ENST00000642170.1:n.2465C>T
ENST00000642395.2:c.2265C>T	ENSP00000493468.2:p.Pro755=
ENST00000642739.1:c.*189C>T	ENSP00000493596.1:n.*189C>T
ENST00000644238.1:c.1746C>T	ENSP00000496728.1:p.Pro582=
ENST00000644337.1:c.2079C>T	ENSP00000494557.1:p.Pro693=
ENST00000645124.1:c.*461C>T	ENSP00000496446.1:n.*461C>T
ENST00000646020.1:c.*954C>T	ENSP00000494745.1:n.*954C>T
XM_005272633.1:c.1932C>T	XP_005272690.1:p.Pro644=
XM_005272633.3:c.1932C>T	XP_005272690.1:p.Pro644=
XM_011543940.1:c.2262C>T	XP_011542242.1:p.Pro754=
XM_011543940.3:c.2262C>T	XP_011542242.1:p.Pro754=
XM_017029712.2:c.1929C>T	XP_016885201.1:p.Pro643=