Canonical Allele Identifier: CA270037

Gene: RPGR

Linked Data

• ClinVar Variation Id: 143094
• ClinVar RCV Id: RCV000132614
• dbSNP Id: rs527236112
• MyVariant Identifiers: chrX:g.38163900C>G (hg19) ; chrX:g.38304647C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38304647C>G , CM000685.2:g.38304647C>G	GRCh38
NC_000023.10:g.38163900C>G , CM000685.1:g.38163900C>G	GRCh37
NC_000023.9:g.38048844C>G	NCBI36
NG_009553.1:g.27889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.126G>C
ENST00000642170.1:n.1189-3276G>C
ENST00000642395.2:c.922G>C	ENSP00000493468.2:p.Ala308Pro
ENST00000642558.1:c.829G>C	ENSP00000496427.1:p.Ala277Pro
ENST00000642739.1:c.922G>C	ENSP00000493596.1:p.Ala308Pro
ENST00000644238.1:c.922G>C	ENSP00000496728.1:p.Ala308Pro
ENST00000644337.1:c.922G>C	ENSP00000494557.1:p.Ala308Pro
ENST00000645032.1:c.922G>C MANE Select	ENSP00000495537.1:p.Ala308Pro
ENST00000645124.1:c.922G>C	ENSP00000496446.1:p.Ala308Pro
ENST00000646020.1:c.922G>C	ENSP00000494745.1:p.Ala308Pro
ENST00000647261.1:c.922G>C	ENSP00000493681.1:p.Ala308Pro
ENST00000318842.11:c.922G>C	ENSP00000322219.6:p.Ala308Pro
ENST00000339363.7:c.922G>C	ENSP00000343671.3:p.Ala308Pro
ENST00000378505.6:c.922G>C	ENSP00000367766.2:p.Ala308Pro
ENST00000465127.1:c.172-361474C>G	ENSP00000417050.1:n.172-361474C>G
ENST00000474584.5:c.922G>C	ENSP00000418926.1:p.Ala308Pro
ENST00000482855.5:c.922G>C	ENSP00000419276.1:p.Ala308Pro
ENST00000494841.1:n.185G>C
NM_000328.2:c.922G>C	NP_000319.1:p.Ala308Pro
NM_001034853.1:c.922G>C	NP_001030025.1:p.Ala308Pro
XM_005272633.1:c.922G>C	XP_005272690.1:p.Ala308Pro
XM_011543940.1:c.919G>C	XP_011542242.1:p.Ala307Pro
XM_005272633.3:c.922G>C	XP_005272690.1:p.Ala308Pro
XM_011543940.3:c.919G>C	XP_011542242.1:p.Ala307Pro
XM_017029712.2:c.919G>C	XP_016885201.1:p.Ala307Pro
NM_001367245.1:c.919G>C	NP_001354174.1:p.Ala307Pro
NM_001367246.1:c.922G>C	NP_001354175.1:p.Ala308Pro
NM_001367247.1:c.922G>C	NP_001354176.1:p.Ala308Pro
NM_001367248.1:c.952G>C	NP_001354177.1:p.Ala318Pro
NM_001367249.1:c.919G>C	NP_001354178.1:p.Ala307Pro
NM_001367250.1:c.919G>C	NP_001354179.1:p.Ala307Pro
NM_001367251.1:c.922G>C	NP_001354180.1:p.Ala308Pro
NR_159803.1:n.1064G>C
NR_159804.1:n.973G>C
NR_159805.1:n.1064G>C
NR_159806.1:n.1064G>C
NR_159807.1:n.1064G>C
NR_159808.1:n.1189-3276G>C
NM_000328.3:c.922G>C	NP_000319.1:p.Ala308Pro
NM_001034853.2:c.922G>C MANE Select	NP_001030025.1:p.Ala308Pro