Canonical Allele Identifier: CA10385526

Gene: RPGR

Linked Data

• ClinVar Variation Id: 2051748
• ClinVar RCV Id: RCV002904911
• dbSNP Id: rs372004762
• ExAC: X:38158279 G / A
• gnomAD v2: X-38158279-G-A
• gnomAD v3: X-38299026-G-A
• gnomAD v4: X-38299026-G-A
• MyVariant Identifiers: chrX:g.38158279G>A (hg19) ; chrX:g.38299026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38299026G>A , CM000685.2:g.38299026G>A	GRCh38
NC_000023.10:g.38158279G>A , CM000685.1:g.38158279G>A	GRCh37
NC_000023.9:g.38043223G>A	NCBI36
NG_009553.1:g.33510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.379C>T
ENST00000642170.1:n.1429C>T
ENST00000642395.2:c.1175C>T	ENSP00000493468.2:p.Pro392Leu
ENST00000642558.1:c.1082C>T	ENSP00000496427.1:p.Pro361Leu
ENST00000642739.1:c.1175C>T	ENSP00000493596.1:p.Pro392Leu
ENST00000644238.1:c.1060-1574C>T	ENSP00000496728.1:n.1060-1574C>T
ENST00000644337.1:c.1060-1574C>T	ENSP00000494557.1:n.1060-1574C>T
ENST00000645032.1:c.1175C>T MANE Select	ENSP00000495537.1:p.Pro392Leu
ENST00000645124.1:c.1175C>T	ENSP00000496446.1:p.Pro392Leu
ENST00000646020.1:c.1235C>T	ENSP00000494745.1:p.Pro412Leu
ENST00000318842.11:c.1175C>T	ENSP00000322219.6:p.Pro392Leu
ENST00000339363.7:c.1175C>T	ENSP00000343671.3:p.Pro392Leu
ENST00000378505.6:c.1175C>T	ENSP00000367766.2:p.Pro392Leu
ENST00000464437.1:c.241C>T
ENST00000465127.1:c.172-367095G>A	ENSP00000417050.1:n.172-367095G>A
ENST00000474584.5:c.1175C>T	ENSP00000418926.1:p.Pro392Leu
ENST00000482855.5:c.1175C>T	ENSP00000419276.1:p.Pro392Leu
ENST00000494841.1:n.438C>T
NM_000328.2:c.1175C>T	NP_000319.1:p.Pro392Leu
NM_001034853.1:c.1175C>T	NP_001030025.1:p.Pro392Leu
XM_005272633.1:c.1175C>T	XP_005272690.1:p.Pro392Leu
XM_011543940.1:c.1172C>T	XP_011542242.1:p.Pro391Leu
XM_005272633.3:c.1175C>T	XP_005272690.1:p.Pro392Leu
XM_011543940.3:c.1172C>T	XP_011542242.1:p.Pro391Leu
XM_017029712.2:c.1172C>T	XP_016885201.1:p.Pro391Leu
NM_001367245.1:c.1172C>T	NP_001354174.1:p.Pro391Leu
NM_001367246.1:c.1060-1574C>T	NP_001354175.1:n.1060-1574C>T
NM_001367247.1:c.1175C>T	NP_001354176.1:p.Pro392Leu
NM_001367248.1:c.1205C>T	NP_001354177.1:p.Pro402Leu
NM_001367249.1:c.1172C>T	NP_001354178.1:p.Pro391Leu
NM_001367250.1:c.1172C>T	NP_001354179.1:p.Pro391Leu
NM_001367251.1:c.1060-1574C>T	NP_001354180.1:n.1060-1574C>T
NR_159803.1:n.1377C>T
NR_159804.1:n.1226C>T
NR_159805.1:n.1317C>T
NR_159806.1:n.1317C>T
NR_159807.1:n.1317C>T
NR_159808.1:n.1429C>T
NM_000328.3:c.1175C>T	NP_000319.1:p.Pro392Leu
NM_001034853.2:c.1175C>T MANE Select	NP_001030025.1:p.Pro392Leu