Canonical Allele Identifier: CA226418

Gene: RPGR

Linked Data

• ClinVar Variation Id: 9897
• ClinVar RCV Id: RCV000010575 ; RCV000085105
• dbSNP Id: rs62638644
• MyVariant Identifiers: chrX:g.38178162A>C (hg19) ; chrX:g.38318909A>C (hg38)
• PubMed: PMID:8817343 ; PMID:20631154

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38318909A>C , CM000685.2:g.38318909A>C	GRCh38
NC_000023.10:g.38178162A>C , CM000685.1:g.38178162A>C	GRCh37
NC_000023.9:g.38063106A>C	NCBI36
NG_009553.1:g.13627T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642170.1:n.799T>G
ENST00000642373.1:c.389T>G	ENSP00000496030.1:p.Phe130Cys
ENST00000642395.2:c.389T>G	ENSP00000493468.2:p.Phe130Cys
ENST00000642558.1:c.296T>G	ENSP00000496427.1:p.Phe99Cys
ENST00000642739.1:c.389T>G	ENSP00000493596.1:p.Phe130Cys
ENST00000644238.1:c.389T>G	ENSP00000496728.1:p.Phe130Cys
ENST00000644337.1:c.389T>G	ENSP00000494557.1:p.Phe130Cys
ENST00000645032.1:c.389T>G MANE Select	ENSP00000495537.1:p.Phe130Cys
ENST00000645124.1:c.389T>G	ENSP00000496446.1:p.Phe130Cys
ENST00000646020.1:c.389T>G	ENSP00000494745.1:p.Phe130Cys
ENST00000647261.1:c.389T>G	ENSP00000493681.1:p.Phe130Cys
ENST00000318842.11:c.389T>G	ENSP00000322219.6:p.Phe130Cys
ENST00000339363.7:c.389T>G	ENSP00000343671.3:p.Phe130Cys
ENST00000378505.6:c.389T>G	ENSP00000367766.2:p.Phe130Cys
ENST00000465127.1:c.172-347212A>C	ENSP00000417050.1:n.172-347212A>C
ENST00000470183.1:n.82T>G
ENST00000474584.5:c.389T>G	ENSP00000418926.1:p.Phe130Cys
ENST00000482855.5:c.389T>G	ENSP00000419276.1:p.Phe130Cys
NM_000328.2:c.389T>G	NP_000319.1:p.Phe130Cys
NM_001034853.1:c.389T>G	NP_001030025.1:p.Phe130Cys
XM_005272633.1:c.389T>G	XP_005272690.1:p.Phe130Cys
XM_011543940.1:c.389T>G	XP_011542242.1:p.Phe130Cys
XM_005272633.3:c.389T>G	XP_005272690.1:p.Phe130Cys
XM_011543940.3:c.389T>G	XP_011542242.1:p.Phe130Cys
XM_017029712.2:c.389T>G	XP_016885201.1:p.Phe130Cys
NM_001367245.1:c.389T>G	NP_001354174.1:p.Phe130Cys
NM_001367246.1:c.389T>G	NP_001354175.1:p.Phe130Cys
NM_001367247.1:c.389T>G	NP_001354176.1:p.Phe130Cys
NM_001367248.1:c.419T>G	NP_001354177.1:p.Phe140Cys
NM_001367249.1:c.386T>G	NP_001354178.1:p.Phe129Cys
NM_001367250.1:c.389T>G	NP_001354179.1:p.Phe130Cys
NM_001367251.1:c.389T>G	NP_001354180.1:p.Phe130Cys
NR_159803.1:n.531T>G
NR_159804.1:n.531T>G
NR_159805.1:n.531T>G
NR_159806.1:n.531T>G
NR_159807.1:n.531T>G
NR_159808.1:n.799T>G
NM_000328.3:c.389T>G	NP_000319.1:p.Phe130Cys
NM_001034853.2:c.389T>G MANE Select	NP_001030025.1:p.Phe130Cys