Canonical Allele Identifier: CA412733107

Gene: RPGR

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38287248G>C , CM000685.2:g.38287248G>C	GRCh38
NC_000023.10:g.38146501G>C , CM000685.1:g.38146501G>C	GRCh37
NC_000023.9:g.38031445G>C	NCBI36
NG_009553.1:g.45288C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001034853.2:c.1754-3C>G MANE Select	NP_001030025.1:n.1754-3C>G
ENST00000645032.1:c.1754-3C>G MANE Select	ENSP00000495537.1:n.1754-3C>G
NM_000328.2:c.1754-3C>G	NP_000319.1:n.1754-3C>G
NM_000328.3:c.1754-3C>G	NP_000319.1:n.1754-3C>G
NM_001034853.1:c.1754-3C>G	NP_001030025.1:n.1754-3C>G
NM_001367245.1:c.1751-3C>G	NP_001354174.1:n.1751-3C>G
NM_001367246.1:c.1568-3C>G	NP_001354175.1:n.1568-3C>G
NM_001367247.1:c.1572+3711C>G	NP_001354176.1:n.1572+3711C>G
NM_001367248.1:c.1602+3711C>G	NP_001354177.1:n.1602+3711C>G
NM_001367249.1:c.1569+3711C>G	NP_001354178.1:n.1569+3711C>G
NM_001367250.1:c.1569+3711C>G	NP_001354179.1:n.1569+3711C>G
NM_001367251.1:c.1386+3711C>G	NP_001354180.1:n.1386+3711C>G
NR_159803.1:n.2112-3C>G
NR_159804.1:n.1648+3711C>G
NR_159805.1:n.1714+3711C>G
NR_159806.1:n.1715-3C>G
NR_159807.1:n.1622+3711C>G
NR_159808.1:n.1826+3711C>G
ENST00000318842.11:c.1754-3C>G	ENSP00000322219.6:n.1754-3C>G
ENST00000339363.7:c.2366C>G	ENSP00000343671.3:p.Ser789Ter
ENST00000378505.6:c.1754-3C>G	ENSP00000367766.2:n.1754-3C>G
ENST00000465127.1:c.172-378873G>C	ENSP00000417050.1:n.172-378873G>C
ENST00000474584.5:c.*37+3711C>G	ENSP00000418926.1:n.*37+3711C>G
ENST00000482855.5:c.1754-3C>G	ENSP00000419276.1:n.1754-3C>G
ENST00000494707.5:c.139+3711C>G
ENST00000494707.6:c.953+617C>G
ENST00000642170.1:n.1826+3711C>G
ENST00000642395.2:c.1754-3C>G	ENSP00000493468.2:n.1754-3C>G
ENST00000642739.1:c.1572+3711C>G	ENSP00000493596.1:n.1572+3711C>G
ENST00000644238.1:c.1386+3711C>G	ENSP00000496728.1:n.1386+3711C>G
ENST00000644337.1:c.1568-3C>G	ENSP00000494557.1:n.1568-3C>G
ENST00000645124.1:c.1573-3C>G	ENSP00000496446.1:n.1573-3C>G
ENST00000646020.1:c.*443-3C>G	ENSP00000494745.1:n.*443-3C>G
XM_005272633.1:c.1572+3711C>G	XP_005272690.1:n.1572+3711C>G
XM_005272633.3:c.1572+3711C>G	XP_005272690.1:n.1572+3711C>G
XM_011543940.1:c.1751-3C>G	XP_011542242.1:n.1751-3C>G
XM_011543940.3:c.1751-3C>G	XP_011542242.1:n.1751-3C>G
XM_017029712.2:c.1569+3711C>G	XP_016885201.1:n.1569+3711C>G