Canonical Allele Identifier: CA226348

Gene: RPGR

Linked Data

• ClinVar Variation Id: 98732
• ClinVar RCV Id: RCV000010579 ; RCV000085047 ; RCV001073791 ; RCV002514520
• dbSNP Id: rs62635002
• MyVariant Identifiers: chrX:g.38158206T>C (hg19) ; chrX:g.38298953T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38298953T>C , CM000685.2:g.38298953T>C	GRCh38
NC_000023.10:g.38158206T>C , CM000685.1:g.38158206T>C	GRCh37
NC_000023.9:g.38043150T>C	NCBI36
NG_009553.1:g.33583A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.449+3A>G
ENST00000642170.1:n.1499+3A>G
ENST00000642395.2:c.1245+3A>G	ENSP00000493468.2:n.1245+3A>G
ENST00000642739.1:c.1245+3A>G	ENSP00000493596.1:n.1245+3A>G
ENST00000644238.1:c.1060-1501A>G	ENSP00000496728.1:n.1060-1501A>G
ENST00000644337.1:c.1060-1501A>G	ENSP00000494557.1:n.1060-1501A>G
ENST00000645032.1:c.1245+3A>G MANE Select	ENSP00000495537.1:n.1245+3A>G
ENST00000645124.1:c.1245+3A>G	ENSP00000496446.1:n.1245+3A>G
ENST00000646020.1:c.1305+3A>G	ENSP00000494745.1:n.1305+3A>G
ENST00000318842.11:c.1245+3A>G	ENSP00000322219.6:n.1245+3A>G
ENST00000339363.7:c.1245+3A>G	ENSP00000343671.3:n.1245+3A>G
ENST00000378505.6:c.1245+3A>G	ENSP00000367766.2:n.1245+3A>G
ENST00000464437.1:c.311+3A>G
ENST00000465127.1:c.172-367168T>C	ENSP00000417050.1:n.172-367168T>C
ENST00000474584.5:c.1245+3A>G	ENSP00000418926.1:n.1245+3A>G
ENST00000482855.5:c.1245+3A>G	ENSP00000419276.1:n.1245+3A>G
ENST00000494841.1:n.508+3A>G
NM_000328.2:c.1245+3A>G	NP_000319.1:n.1245+3A>G
NM_001034853.1:c.1245+3A>G	NP_001030025.1:n.1245+3A>G
XM_005272633.1:c.1245+3A>G	XP_005272690.1:n.1245+3A>G
XM_011543940.1:c.1242+3A>G	XP_011542242.1:n.1242+3A>G
XM_005272633.3:c.1245+3A>G	XP_005272690.1:n.1245+3A>G
XM_011543940.3:c.1242+3A>G	XP_011542242.1:n.1242+3A>G
XM_017029712.2:c.1242+3A>G	XP_016885201.1:n.1242+3A>G
NM_001367245.1:c.1242+3A>G	NP_001354174.1:n.1242+3A>G
NM_001367246.1:c.1060-1501A>G	NP_001354175.1:n.1060-1501A>G
NM_001367247.1:c.1245+3A>G	NP_001354176.1:n.1245+3A>G
NM_001367248.1:c.1275+3A>G	NP_001354177.1:n.1275+3A>G
NM_001367249.1:c.1242+3A>G	NP_001354178.1:n.1242+3A>G
NM_001367250.1:c.1242+3A>G	NP_001354179.1:n.1242+3A>G
NM_001367251.1:c.1060-1501A>G	NP_001354180.1:n.1060-1501A>G
NR_159803.1:n.1447+3A>G
NR_159804.1:n.1296+3A>G
NR_159805.1:n.1387+3A>G
NR_159806.1:n.1387+3A>G
NR_159807.1:n.1387+3A>G
NR_159808.1:n.1499+3A>G
NM_000328.3:c.1245+3A>G	NP_000319.1:n.1245+3A>G
NM_001034853.2:c.1245+3A>G MANE Select	NP_001030025.1:n.1245+3A>G