Canonical Allele Identifier: CA226464

Gene: RPGR

Linked Data

• ClinVar Variation Id: 98813
• ClinVar RCV Id: RCV000085136 ; RCV002513920
• dbSNP Id: rs62640592
• MyVariant Identifiers: chrX:g.38163887C>G (hg19) ; chrX:g.38304634C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38304634C>G , CM000685.2:g.38304634C>G	GRCh38
NC_000023.10:g.38163887C>G , CM000685.1:g.38163887C>G	GRCh37
NC_000023.9:g.38048831C>G	NCBI36
NG_009553.1:g.27902G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.138+1G>C
ENST00000642170.1:n.1189-3263G>C
ENST00000642395.2:c.934+1G>C	ENSP00000493468.2:n.934+1G>C
ENST00000642558.1:c.841+1G>C	ENSP00000496427.1:n.841+1G>C
ENST00000642739.1:c.934+1G>C	ENSP00000493596.1:n.934+1G>C
ENST00000644238.1:c.934+1G>C	ENSP00000496728.1:n.934+1G>C
ENST00000644337.1:c.934+1G>C	ENSP00000494557.1:n.934+1G>C
ENST00000645032.1:c.934+1G>C MANE Select	ENSP00000495537.1:n.934+1G>C
ENST00000645124.1:c.934+1G>C	ENSP00000496446.1:n.934+1G>C
ENST00000646020.1:c.934+1G>C	ENSP00000494745.1:n.934+1G>C
ENST00000647261.1:c.934+1G>C	ENSP00000493681.1:n.934+1G>C
ENST00000318842.11:c.934+1G>C	ENSP00000322219.6:n.934+1G>C
ENST00000339363.7:c.934+1G>C	ENSP00000343671.3:n.934+1G>C
ENST00000378505.6:c.934+1G>C	ENSP00000367766.2:n.934+1G>C
ENST00000465127.1:c.172-361487C>G	ENSP00000417050.1:n.172-361487C>G
ENST00000474584.5:c.934+1G>C	ENSP00000418926.1:n.934+1G>C
ENST00000482855.5:c.934+1G>C	ENSP00000419276.1:n.934+1G>C
ENST00000494841.1:n.197+1G>C
NM_000328.2:c.934+1G>C	NP_000319.1:n.934+1G>C
NM_001034853.1:c.934+1G>C	NP_001030025.1:n.934+1G>C
XM_005272633.1:c.934+1G>C	XP_005272690.1:n.934+1G>C
XM_011543940.1:c.931+1G>C	XP_011542242.1:n.931+1G>C
XM_005272633.3:c.934+1G>C	XP_005272690.1:n.934+1G>C
XM_011543940.3:c.931+1G>C	XP_011542242.1:n.931+1G>C
XM_017029712.2:c.931+1G>C	XP_016885201.1:n.931+1G>C
NM_001367245.1:c.931+1G>C	NP_001354174.1:n.931+1G>C
NM_001367246.1:c.934+1G>C	NP_001354175.1:n.934+1G>C
NM_001367247.1:c.934+1G>C	NP_001354176.1:n.934+1G>C
NM_001367248.1:c.964+1G>C	NP_001354177.1:n.964+1G>C
NM_001367249.1:c.931+1G>C	NP_001354178.1:n.931+1G>C
NM_001367250.1:c.931+1G>C	NP_001354179.1:n.931+1G>C
NM_001367251.1:c.934+1G>C	NP_001354180.1:n.934+1G>C
NR_159803.1:n.1076+1G>C
NR_159804.1:n.985+1G>C
NR_159805.1:n.1076+1G>C
NR_159806.1:n.1076+1G>C
NR_159807.1:n.1076+1G>C
NR_159808.1:n.1189-3263G>C
NM_000328.3:c.934+1G>C	NP_000319.1:n.934+1G>C
NM_001034853.2:c.934+1G>C MANE Select	NP_001030025.1:n.934+1G>C