Canonical Allele Identifier: CA226394

Gene: RPGR

Linked Data

• ClinVar Variation Id: 98765
• ClinVar RCV Id: RCV000085084 ; RCV000787714
• dbSNP Id: rs62638633
• gnomAD v4: X-38321091-T-C
• MyVariant Identifiers: chrX:g.38180344T>C (hg19) ; chrX:g.38321091T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38321091T>C , CM000685.2:g.38321091T>C	GRCh38
NC_000023.10:g.38180344T>C , CM000685.1:g.38180344T>C	GRCh37
NC_000023.9:g.38065288T>C	NCBI36
NG_009553.1:g.11445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642170.1:n.658-2A>G
ENST00000642373.1:c.248-2A>G	ENSP00000496030.1:n.248-2A>G
ENST00000642395.2:c.248-2A>G	ENSP00000493468.2:n.248-2A>G
ENST00000642558.1:c.155-2A>G	ENSP00000496427.1:n.155-2A>G
ENST00000642739.1:c.248-2A>G	ENSP00000493596.1:n.248-2A>G
ENST00000644238.1:c.248-2A>G	ENSP00000496728.1:n.248-2A>G
ENST00000644337.1:c.248-2A>G	ENSP00000494557.1:n.248-2A>G
ENST00000645032.1:c.248-2A>G MANE Select	ENSP00000495537.1:n.248-2A>G
ENST00000645124.1:c.248-2A>G	ENSP00000496446.1:n.248-2A>G
ENST00000646020.1:c.248-2A>G	ENSP00000494745.1:n.248-2A>G
ENST00000647261.1:c.248-2A>G	ENSP00000493681.1:n.248-2A>G
ENST00000318842.11:c.248-2A>G	ENSP00000322219.6:n.248-2A>G
ENST00000339363.7:c.248-2A>G	ENSP00000343671.3:n.248-2A>G
ENST00000378505.6:c.248-2A>G	ENSP00000367766.2:n.248-2A>G
ENST00000465127.1:c.172-345030T>C	ENSP00000417050.1:n.172-345030T>C
ENST00000474584.5:c.248-2A>G	ENSP00000418926.1:n.248-2A>G
ENST00000482855.5:c.248-2A>G	ENSP00000419276.1:n.248-2A>G
NM_000328.2:c.248-2A>G	NP_000319.1:n.248-2A>G
NM_001034853.1:c.248-2A>G	NP_001030025.1:n.248-2A>G
XM_005272633.1:c.248-2A>G	XP_005272690.1:n.248-2A>G
XM_011543940.1:c.248-2A>G	XP_011542242.1:n.248-2A>G
XM_005272633.3:c.248-2A>G	XP_005272690.1:n.248-2A>G
XM_011543940.3:c.248-2A>G	XP_011542242.1:n.248-2A>G
XM_017029712.2:c.248-2A>G	XP_016885201.1:n.248-2A>G
NM_001367245.1:c.248-2A>G	NP_001354174.1:n.248-2A>G
NM_001367246.1:c.248-2A>G	NP_001354175.1:n.248-2A>G
NM_001367247.1:c.248-2A>G	NP_001354176.1:n.248-2A>G
NM_001367248.1:c.278-2A>G	NP_001354177.1:n.278-2A>G
NM_001367249.1:c.248-2A>G	NP_001354178.1:n.248-2A>G
NM_001367250.1:c.248-2A>G	NP_001354179.1:n.248-2A>G
NM_001367251.1:c.248-2A>G	NP_001354180.1:n.248-2A>G
NR_159803.1:n.390-2A>G
NR_159804.1:n.390-2A>G
NR_159805.1:n.390-2A>G
NR_159806.1:n.390-2A>G
NR_159807.1:n.390-2A>G
NR_159808.1:n.658-2A>G
NM_000328.3:c.248-2A>G	NP_000319.1:n.248-2A>G
NM_001034853.2:c.248-2A>G MANE Select	NP_001030025.1:n.248-2A>G