Canonical Allele Identifier: CA10385521

Gene: RPGR

Linked Data

• ClinVar Variation Id: 255830
• ClinVar RCV Id: RCV000247379
• dbSNP Id: rs768625051
• ExAC: X:38158254 A / G
• gnomAD v2: X-38158254-A-G
• gnomAD v3: X-38299001-A-G
• gnomAD v4: X-38299001-A-G
• MyVariant Identifiers: chrX:g.38158254A>G (hg19) ; chrX:g.38299001A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38299001A>G , CM000685.2:g.38299001A>G	GRCh38
NC_000023.10:g.38158254A>G , CM000685.1:g.38158254A>G	GRCh37
NC_000023.9:g.38043198A>G	NCBI36
NG_009553.1:g.33535T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.404T>C
ENST00000642170.1:n.1454T>C
ENST00000642395.2:c.1200T>C	ENSP00000493468.2:p.Asn400=
ENST00000642558.1:c.1107T>C	ENSP00000496427.1:p.Asn369=
ENST00000642739.1:c.1200T>C	ENSP00000493596.1:p.Asn400=
ENST00000644238.1:c.1060-1549T>C	ENSP00000496728.1:n.1060-1549T>C
ENST00000644337.1:c.1060-1549T>C	ENSP00000494557.1:n.1060-1549T>C
ENST00000645032.1:c.1200T>C MANE Select	ENSP00000495537.1:p.Asn400=
ENST00000645124.1:c.1200T>C	ENSP00000496446.1:p.Asn400=
ENST00000646020.1:c.1260T>C	ENSP00000494745.1:p.Asn420=
ENST00000318842.11:c.1200T>C	ENSP00000322219.6:p.Asn400=
ENST00000339363.7:c.1200T>C	ENSP00000343671.3:p.Asn400=
ENST00000378505.6:c.1200T>C	ENSP00000367766.2:p.Asn400=
ENST00000464437.1:c.266T>C
ENST00000465127.1:c.172-367120A>G	ENSP00000417050.1:n.172-367120A>G
ENST00000474584.5:c.1200T>C	ENSP00000418926.1:p.Asn400=
ENST00000482855.5:c.1200T>C	ENSP00000419276.1:p.Asn400=
ENST00000494841.1:n.463T>C
NM_000328.2:c.1200T>C	NP_000319.1:p.Asn400=
NM_001034853.1:c.1200T>C	NP_001030025.1:p.Asn400=
XM_005272633.1:c.1200T>C	XP_005272690.1:p.Asn400=
XM_011543940.1:c.1197T>C	XP_011542242.1:p.Asn399=
XM_005272633.3:c.1200T>C	XP_005272690.1:p.Asn400=
XM_011543940.3:c.1197T>C	XP_011542242.1:p.Asn399=
XM_017029712.2:c.1197T>C	XP_016885201.1:p.Asn399=
NM_001367245.1:c.1197T>C	NP_001354174.1:p.Asn399=
NM_001367246.1:c.1060-1549T>C	NP_001354175.1:n.1060-1549T>C
NM_001367247.1:c.1200T>C	NP_001354176.1:p.Asn400=
NM_001367248.1:c.1230T>C	NP_001354177.1:p.Asn410=
NM_001367249.1:c.1197T>C	NP_001354178.1:p.Asn399=
NM_001367250.1:c.1197T>C	NP_001354179.1:p.Asn399=
NM_001367251.1:c.1060-1549T>C	NP_001354180.1:n.1060-1549T>C
NR_159803.1:n.1402T>C
NR_159804.1:n.1251T>C
NR_159805.1:n.1342T>C
NR_159806.1:n.1342T>C
NR_159807.1:n.1342T>C
NR_159808.1:n.1454T>C
NM_000328.3:c.1200T>C	NP_000319.1:p.Asn400=
NM_001034853.2:c.1200T>C MANE Select	NP_001030025.1:p.Asn400=