Canonical Allele Identifier: CA16616540

Gene: RPGR

Linked Data

• ClinVar Variation Id: 406540
• ClinVar RCV Id: RCV000473079 ; RCV001591081
• dbSNP Id: rs1060501181
• MyVariant Identifiers: chrX:g.38156585G>A (hg19) ; chrX:g.38297332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38297332G>A , CM000685.2:g.38297332G>A	GRCh38
NC_000023.10:g.38156585G>A , CM000685.1:g.38156585G>A	GRCh37
NC_000023.9:g.38041529G>A	NCBI36
NG_009553.1:g.35204C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.570C>T
ENST00000642170.1:n.1620C>T
ENST00000642395.2:c.1366C>T	ENSP00000493468.2:p.Gln456Ter
ENST00000642739.1:c.1366C>T	ENSP00000493596.1:p.Gln456Ter
ENST00000644238.1:c.1180C>T	ENSP00000496728.1:p.Gln394Ter
ENST00000644337.1:c.1180C>T	ENSP00000494557.1:p.Gln394Ter
ENST00000645032.1:c.1366C>T MANE Select	ENSP00000495537.1:p.Gln456Ter
ENST00000645124.1:c.1366C>T	ENSP00000496446.1:p.Gln456Ter
ENST00000646020.1:c.1426C>T	ENSP00000494745.1:p.Gln476Ter
ENST00000318842.11:c.1366C>T	ENSP00000322219.6:p.Gln456Ter
ENST00000339363.7:c.1366C>T	ENSP00000343671.3:p.Gln456Ter
ENST00000378505.6:c.1366C>T	ENSP00000367766.2:p.Gln456Ter
ENST00000465127.1:c.172-368789G>A	ENSP00000417050.1:n.172-368789G>A
ENST00000474584.5:c.1366C>T	ENSP00000418926.1:p.Gln456Ter
ENST00000482855.5:c.1366C>T	ENSP00000419276.1:p.Gln456Ter
ENST00000494841.1:n.629C>T
NM_000328.2:c.1366C>T	NP_000319.1:p.Gln456Ter
NM_001034853.1:c.1366C>T	NP_001030025.1:p.Gln456Ter
XM_005272633.1:c.1366C>T	XP_005272690.1:p.Gln456Ter
XM_011543940.1:c.1363C>T	XP_011542242.1:p.Gln455Ter
XM_005272633.3:c.1366C>T	XP_005272690.1:p.Gln456Ter
XM_011543940.3:c.1363C>T	XP_011542242.1:p.Gln455Ter
XM_017029712.2:c.1363C>T	XP_016885201.1:p.Gln455Ter
NM_001367245.1:c.1363C>T	NP_001354174.1:p.Gln455Ter
NM_001367246.1:c.1180C>T	NP_001354175.1:p.Gln394Ter
NM_001367247.1:c.1366C>T	NP_001354176.1:p.Gln456Ter
NM_001367248.1:c.1396C>T	NP_001354177.1:p.Gln466Ter
NM_001367249.1:c.1363C>T	NP_001354178.1:p.Gln455Ter
NM_001367250.1:c.1363C>T	NP_001354179.1:p.Gln455Ter
NM_001367251.1:c.1180C>T	NP_001354180.1:p.Gln394Ter
NR_159803.1:n.1568C>T
NR_159804.1:n.1442C>T
NR_159805.1:n.1508C>T
NR_159806.1:n.1508C>T
NR_159807.1:n.1508C>T
NR_159808.1:n.1620C>T
NM_000328.3:c.1366C>T	NP_000319.1:p.Gln456Ter
NM_001034853.2:c.1366C>T MANE Select	NP_001030025.1:p.Gln456Ter