Canonical Allele Identifier: CA10385475

Gene: RPGR

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38291399T>G , CM000685.2:g.38291399T>G	GRCh38
NC_000023.10:g.38150652T>G , CM000685.1:g.38150652T>G	GRCh37
NC_000023.9:g.38035596T>G	NCBI36
NG_009553.1:g.41137A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001034853.2:c.1500A>C MANE Select	NP_001030025.1:p.Leu500Phe
ENST00000645032.1:c.1500A>C MANE Select	ENSP00000495537.1:p.Leu500Phe
NM_000328.2:c.1500A>C	NP_000319.1:p.Leu500Phe
NM_000328.3:c.1500A>C	NP_000319.1:p.Leu500Phe
NM_001034853.1:c.1500A>C	NP_001030025.1:p.Leu500Phe
NM_001367245.1:c.1497A>C	NP_001354174.1:p.Leu499Phe
NM_001367246.1:c.1314A>C	NP_001354175.1:p.Leu438Phe
NM_001367247.1:c.1500A>C	NP_001354176.1:p.Leu500Phe
NM_001367248.1:c.1530A>C	NP_001354177.1:p.Leu510Phe
NM_001367249.1:c.1497A>C	NP_001354178.1:p.Leu499Phe
NM_001367250.1:c.1497A>C	NP_001354179.1:p.Leu499Phe
NM_001367251.1:c.1314A>C	NP_001354180.1:p.Leu438Phe
NR_159803.1:n.1862A>C
NR_159804.1:n.1576A>C
NR_159805.1:n.1642A>C
NR_159806.1:n.1642A>C
NR_159807.1:n.1557-375A>C
NR_159808.1:n.1754A>C
ENST00000318842.11:c.1500A>C	ENSP00000322219.6:p.Leu500Phe
ENST00000339363.7:c.1500A>C	ENSP00000343671.3:p.Leu500Phe
ENST00000378505.6:c.1500A>C	ENSP00000367766.2:p.Leu500Phe
ENST00000465127.1:c.172-374722T>G	ENSP00000417050.1:n.172-374722T>G
ENST00000474584.5:c.1415-375A>C	ENSP00000418926.1:n.1415-375A>C
ENST00000482855.5:c.1500A>C	ENSP00000419276.1:p.Leu500Phe
ENST00000494707.5:c.67A>C
ENST00000494707.6:c.704A>C
ENST00000642170.1:n.1754A>C
ENST00000642395.2:c.1500A>C	ENSP00000493468.2:p.Leu500Phe
ENST00000642739.1:c.1500A>C	ENSP00000493596.1:p.Leu500Phe
ENST00000644238.1:c.1314A>C	ENSP00000496728.1:p.Leu438Phe
ENST00000644337.1:c.1314A>C	ENSP00000494557.1:p.Leu438Phe
ENST00000645124.1:c.1500A>C	ENSP00000496446.1:p.Leu500Phe
ENST00000646020.1:c.*193A>C	ENSP00000494745.1:n.*193A>C
XM_005272633.1:c.1500A>C	XP_005272690.1:p.Leu500Phe
XM_005272633.3:c.1500A>C	XP_005272690.1:p.Leu500Phe
XM_011543940.1:c.1497A>C	XP_011542242.1:p.Leu499Phe
XM_011543940.3:c.1497A>C	XP_011542242.1:p.Leu499Phe
XM_017029712.2:c.1497A>C	XP_016885201.1:p.Leu499Phe