Canonical Allele Identifier: CA10385525

Gene: RPGR

Linked Data

• ClinVar Variation Id: 2888613
• ClinVar RCV Id: RCV003650061
• dbSNP Id: rs149742786
• ExAC: X:38158278 C / T
• gnomAD v2: X-38158278-C-T
• gnomAD v3: X-38299025-C-T
• gnomAD v4: X-38299025-C-T
• MyVariant Identifiers: chrX:g.38158278C>T (hg19) ; chrX:g.38299025C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38299025C>T , CM000685.2:g.38299025C>T	GRCh38
NC_000023.10:g.38158278C>T , CM000685.1:g.38158278C>T	GRCh37
NC_000023.9:g.38043222C>T	NCBI36
NG_009553.1:g.33511G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.380G>A
ENST00000642170.1:n.1430G>A
ENST00000642395.2:c.1176G>A	ENSP00000493468.2:p.Pro392=
ENST00000642558.1:c.1083G>A	ENSP00000496427.1:p.Pro361=
ENST00000642739.1:c.1176G>A	ENSP00000493596.1:p.Pro392=
ENST00000644238.1:c.1060-1573G>A	ENSP00000496728.1:n.1060-1573G>A
ENST00000644337.1:c.1060-1573G>A	ENSP00000494557.1:n.1060-1573G>A
ENST00000645032.1:c.1176G>A MANE Select	ENSP00000495537.1:p.Pro392=
ENST00000645124.1:c.1176G>A	ENSP00000496446.1:p.Pro392=
ENST00000646020.1:c.1236G>A	ENSP00000494745.1:p.Pro412=
ENST00000318842.11:c.1176G>A	ENSP00000322219.6:p.Pro392=
ENST00000339363.7:c.1176G>A	ENSP00000343671.3:p.Pro392=
ENST00000378505.6:c.1176G>A	ENSP00000367766.2:p.Pro392=
ENST00000464437.1:c.242G>A
ENST00000465127.1:c.172-367096C>T	ENSP00000417050.1:n.172-367096C>T
ENST00000474584.5:c.1176G>A	ENSP00000418926.1:p.Pro392=
ENST00000482855.5:c.1176G>A	ENSP00000419276.1:p.Pro392=
ENST00000494841.1:n.439G>A
NM_000328.2:c.1176G>A	NP_000319.1:p.Pro392=
NM_001034853.1:c.1176G>A	NP_001030025.1:p.Pro392=
XM_005272633.1:c.1176G>A	XP_005272690.1:p.Pro392=
XM_011543940.1:c.1173G>A	XP_011542242.1:p.Pro391=
XM_005272633.3:c.1176G>A	XP_005272690.1:p.Pro392=
XM_011543940.3:c.1173G>A	XP_011542242.1:p.Pro391=
XM_017029712.2:c.1173G>A	XP_016885201.1:p.Pro391=
NM_001367245.1:c.1173G>A	NP_001354174.1:p.Pro391=
NM_001367246.1:c.1060-1573G>A	NP_001354175.1:n.1060-1573G>A
NM_001367247.1:c.1176G>A	NP_001354176.1:p.Pro392=
NM_001367248.1:c.1206G>A	NP_001354177.1:p.Pro402=
NM_001367249.1:c.1173G>A	NP_001354178.1:p.Pro391=
NM_001367250.1:c.1173G>A	NP_001354179.1:p.Pro391=
NM_001367251.1:c.1060-1573G>A	NP_001354180.1:n.1060-1573G>A
NR_159803.1:n.1378G>A
NR_159804.1:n.1227G>A
NR_159805.1:n.1318G>A
NR_159806.1:n.1318G>A
NR_159807.1:n.1318G>A
NR_159808.1:n.1430G>A
NM_000328.3:c.1176G>A	NP_000319.1:p.Pro392=
NM_001034853.2:c.1176G>A MANE Select	NP_001030025.1:p.Pro392=