Canonical Allele Identifier: CA412730692

Gene: RPGR

Linked Data

• ClinVar Variation Id: 493516
• ClinVar RCV Id: RCV000585628 ; RCV001199539
• dbSNP Id: rs1555961787
• MyVariant Identifiers: chrX:g.38145836C>A (hg19) ; chrX:g.38286583C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286583C>A , CM000685.2:g.38286583C>A	GRCh38
NC_000023.10:g.38145836C>A , CM000685.1:g.38145836C>A	GRCh37
NC_000023.9:g.38030780C>A	NCBI36
NG_009553.1:g.45953G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1282G>T
ENST00000642170.1:n.1826+4376G>T
ENST00000642395.2:c.1905+511G>T	ENSP00000493468.2:n.1905+511G>T
ENST00000642739.1:c.1572+4376G>T	ENSP00000493596.1:n.1572+4376G>T
ENST00000644238.1:c.1386+4376G>T	ENSP00000496728.1:n.1386+4376G>T
ENST00000644337.1:c.1719+511G>T	ENSP00000494557.1:n.1719+511G>T
ENST00000645032.1:c.2416G>T MANE Select	ENSP00000495537.1:p.Glu806Ter
ENST00000645124.1:c.*101+511G>T	ENSP00000496446.1:n.*101+511G>T
ENST00000646020.1:c.*594+511G>T	ENSP00000494745.1:n.*594+511G>T
ENST00000318842.11:c.1905+511G>T	ENSP00000322219.6:n.1905+511G>T
ENST00000339363.7:c.2520+511G>T	ENSP00000343671.3:n.2520+511G>T
ENST00000378505.6:c.2416G>T	ENSP00000367766.2:p.Glu806Ter
ENST00000465127.1:c.172-379538C>A	ENSP00000417050.1:n.172-379538C>A
ENST00000474584.5:c.*37+4376G>T	ENSP00000418926.1:n.*37+4376G>T
ENST00000482855.5:c.1905+511G>T	ENSP00000419276.1:n.1905+511G>T
ENST00000494707.5:c.139+4376G>T
NM_000328.2:c.1905+511G>T	NP_000319.1:n.1905+511G>T
NM_001034853.1:c.2416G>T	NP_001030025.1:p.Glu806Ter
XM_005272633.1:c.1572+4376G>T	XP_005272690.1:n.1572+4376G>T
XM_011543940.1:c.1902+511G>T	XP_011542242.1:n.1902+511G>T
XM_005272633.3:c.1572+4376G>T	XP_005272690.1:n.1572+4376G>T
XM_011543940.3:c.1902+511G>T	XP_011542242.1:n.1902+511G>T
XM_017029712.2:c.1569+4376G>T	XP_016885201.1:n.1569+4376G>T
NM_001367245.1:c.1902+511G>T	NP_001354174.1:n.1902+511G>T
NM_001367246.1:c.1719+511G>T	NP_001354175.1:n.1719+511G>T
NM_001367247.1:c.1572+4376G>T	NP_001354176.1:n.1572+4376G>T
NM_001367248.1:c.1602+4376G>T	NP_001354177.1:n.1602+4376G>T
NM_001367249.1:c.1569+4376G>T	NP_001354178.1:n.1569+4376G>T
NM_001367250.1:c.1569+4376G>T	NP_001354179.1:n.1569+4376G>T
NM_001367251.1:c.1386+4376G>T	NP_001354180.1:n.1386+4376G>T
NR_159803.1:n.2263+511G>T
NR_159804.1:n.1648+4376G>T
NR_159805.1:n.1714+4376G>T
NR_159806.1:n.1866+511G>T
NR_159807.1:n.1622+4376G>T
NR_159808.1:n.1826+4376G>T
NM_000328.3:c.1905+511G>T	NP_000319.1:n.1905+511G>T
NM_001034853.2:c.2416G>T MANE Select	NP_001030025.1:p.Glu806Ter