Canonical Allele Identifier: CA7089260

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21325898G>A , CM000676.2:g.21325898G>A	GRCh38
NC_000014.8:g.21794057G>A , CM000676.1:g.21794057G>A	GRCh37
NC_000014.7:g.20863897G>A	NCBI36
NG_008933.1:g.42922G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.2435G>A MANE Select	NP_065099.3:p.Arg812Gln
ENST00000400017.7:c.2435G>A MANE Select	ENSP00000382895.2:p.Arg812Gln
NM_001377523.1:c.689-1725G>A	NP_001364452.1:n.689-1725G>A
NM_001377948.1:c.1361G>A	NP_001364877.1:p.Arg454Gln
NM_001377949.1:c.796+1173G>A	NP_001364878.1:n.796+1173G>A
NM_001377950.1:c.689-1725G>A	NP_001364879.1:n.689-1725G>A
NM_001377951.1:c.191-1725G>A	NP_001364880.1:n.191-1725G>A
NM_020366.3:c.2435G>A	NP_065099.3:p.Arg812Gln
ENST00000382933.8:c.689-1725G>A	ENSP00000372391.4:n.689-1725G>A
ENST00000400017.6:c.2435G>A	ENSP00000382895.2:p.Arg812Gln
ENST00000553927.1:n.1367G>A
ENST00000555322.5:c.862G>A
ENST00000555489.5:c.628G>A	ENSP00000451044.1:n.628G>A
ENST00000555587.5:c.860G>A	ENSP00000451262.1:p.Arg287Gln
ENST00000556336.5:c.1682-1725G>A	ENSP00000450445.1:n.1682-1725G>A
ENST00000557771.5:c.2321G>A	ENSP00000451219.1:p.Arg774Gln
XM_005267879.2:c.1361G>A	XP_005267936.1:p.Arg454Gln
XM_005267880.2:c.1328G>A	XP_005267937.1:p.Arg443Gln
XM_005267881.2:c.809G>A	XP_005267938.1:p.Arg270Gln
XM_005267881.3:c.809G>A	XP_005267938.1:p.Arg270Gln
XM_011536978.1:c.1361G>A	XP_011535280.1:p.Arg454Gln
XM_011536979.1:c.1145G>A	XP_011535281.1:p.Arg382Gln
XM_011536980.1:c.1016G>A	XP_011535282.1:p.Arg339Gln
XM_011536981.1:c.1141+828G>A	XP_011535283.1:n.1141+828G>A
XM_011536982.1:c.796+1173G>A	XP_011535284.1:n.796+1173G>A
XM_011536983.1:c.2402G>A	XP_011535285.1:p.Arg801Gln
XM_017021473.1:c.1141+828G>A	XP_016876962.1:n.1141+828G>A
XM_024449663.1:c.1361G>A	XP_024305431.1:p.Arg454Gln
XM_024449664.1:c.1141+828G>A	XP_024305432.1:n.1141+828G>A
XM_024449665.1:c.796+1173G>A	XP_024305433.1:n.796+1173G>A
XM_024449666.1:c.796+1173G>A	XP_024305434.1:n.796+1173G>A