Canonical Allele Identifier: CA226374

Gene: RPGR

Linked Data

• ClinVar Variation Id: 98753
• ClinVar RCV Id: RCV000085071 ; RCV003534331
• dbSNP Id: rs62635013
• MyVariant Identifiers: chrX:g.38147120C>A (hg19) ; chrX:g.38287867C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38287867C>A , CM000685.2:g.38287867C>A	GRCh38
NC_000023.10:g.38147120C>A , CM000685.1:g.38147120C>A	GRCh37
NC_000023.9:g.38032064C>A	NCBI36
NG_009553.1:g.44669G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.951G>T
ENST00000642170.1:n.1826+3092G>T
ENST00000642395.2:c.1747G>T	ENSP00000493468.2:p.Glu583Ter
ENST00000642739.1:c.1572+3092G>T	ENSP00000493596.1:n.1572+3092G>T
ENST00000644238.1:c.1386+3092G>T	ENSP00000496728.1:n.1386+3092G>T
ENST00000644337.1:c.1561G>T	ENSP00000494557.1:p.Glu521Ter
ENST00000645032.1:c.1747G>T MANE Select	ENSP00000495537.1:p.Glu583Ter
ENST00000645124.1:c.1573-622G>T	ENSP00000496446.1:n.1573-622G>T
ENST00000646020.1:c.*440G>T	ENSP00000494745.1:n.*440G>T
ENST00000318842.11:c.1747G>T	ENSP00000322219.6:p.Glu583Ter
ENST00000339363.7:c.1747G>T	ENSP00000343671.3:p.Glu583Ter
ENST00000378505.6:c.1747G>T	ENSP00000367766.2:p.Glu583Ter
ENST00000465127.1:c.172-378254C>A	ENSP00000417050.1:n.172-378254C>A
ENST00000474584.5:c.*37+3092G>T	ENSP00000418926.1:n.*37+3092G>T
ENST00000482855.5:c.1747G>T	ENSP00000419276.1:p.Glu583Ter
ENST00000494707.5:c.139+3092G>T
NM_000328.2:c.1747G>T	NP_000319.1:p.Glu583Ter
NM_001034853.1:c.1747G>T	NP_001030025.1:p.Glu583Ter
XM_005272633.1:c.1572+3092G>T	XP_005272690.1:n.1572+3092G>T
XM_011543940.1:c.1744G>T	XP_011542242.1:p.Glu582Ter
XM_005272633.3:c.1572+3092G>T	XP_005272690.1:n.1572+3092G>T
XM_011543940.3:c.1744G>T	XP_011542242.1:p.Glu582Ter
XM_017029712.2:c.1569+3092G>T	XP_016885201.1:n.1569+3092G>T
NM_001367245.1:c.1744G>T	NP_001354174.1:p.Glu582Ter
NM_001367246.1:c.1561G>T	NP_001354175.1:p.Glu521Ter
NM_001367247.1:c.1572+3092G>T	NP_001354176.1:n.1572+3092G>T
NM_001367248.1:c.1602+3092G>T	NP_001354177.1:n.1602+3092G>T
NM_001367249.1:c.1569+3092G>T	NP_001354178.1:n.1569+3092G>T
NM_001367250.1:c.1569+3092G>T	NP_001354179.1:n.1569+3092G>T
NM_001367251.1:c.1386+3092G>T	NP_001354180.1:n.1386+3092G>T
NR_159803.1:n.2109G>T
NR_159804.1:n.1648+3092G>T
NR_159805.1:n.1714+3092G>T
NR_159806.1:n.1715-622G>T
NR_159807.1:n.1622+3092G>T
NR_159808.1:n.1826+3092G>T
NM_000328.3:c.1747G>T	NP_000319.1:p.Glu583Ter
NM_001034853.2:c.1747G>T MANE Select	NP_001030025.1:p.Glu583Ter