Canonical Allele Identifier: CA388858083

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21348233G>A , CM000676.2:g.21348233G>A	GRCh38
NC_000014.8:g.21816392G>A , CM000676.1:g.21816392G>A	GRCh37
NC_000014.7:g.20886232G>A	NCBI36
NG_008933.1:g.65257G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.3679G>A MANE Select	NP_065099.3:p.Gly1227Arg
ENST00000400017.7:c.3679G>A MANE Select	ENSP00000382895.2:p.Gly1227Arg
NM_001377523.1:c.1657G>A	NP_001364452.1:p.Gly553Arg
NM_001377948.1:c.2605G>A	NP_001364877.1:p.Gly869Arg
NM_001377949.1:c.1765G>A	NP_001364878.1:p.Gly589Arg
NM_001377950.1:c.1657G>A	NP_001364879.1:p.Gly553Arg
NM_001377951.1:c.1162G>A	NP_001364880.1:p.Gly388Arg
NM_020366.3:c.3679G>A	NP_065099.3:p.Gly1227Arg
ENST00000382933.8:c.1657G>A	ENSP00000372391.4:p.Gly553Arg
ENST00000400017.6:c.3679G>A	ENSP00000382895.2:p.Gly1227Arg
ENST00000553927.1:n.2611G>A
ENST00000555322.5:c.2106G>A
ENST00000555489.5:c.1872G>A	ENSP00000451044.1:n.1872G>A
ENST00000555587.5:c.2104G>A	ENSP00000451262.1:p.Gly702Arg
ENST00000556336.5:c.2650G>A	ENSP00000450445.1:p.Gly884Arg
ENST00000557771.5:c.3565G>A	ENSP00000451219.1:p.Gly1189Arg
XM_005267879.2:c.2608G>A	XP_005267936.1:p.Gly870Arg
XM_005267880.2:c.2575G>A	XP_005267937.1:p.Gly859Arg
XM_005267881.2:c.2056G>A	XP_005267938.1:p.Gly686Arg
XM_005267881.3:c.2056G>A	XP_005267938.1:p.Gly686Arg
XM_011536978.1:c.2605G>A	XP_011535280.1:p.Gly869Arg
XM_011536979.1:c.2392G>A	XP_011535281.1:p.Gly798Arg
XM_011536980.1:c.2263G>A	XP_011535282.1:p.Gly755Arg
XM_011536981.1:c.2113G>A	XP_011535283.1:p.Gly705Arg
XM_011536982.1:c.1768G>A	XP_011535284.1:p.Gly590Arg
XM_011536983.1:c.3646G>A	XP_011535285.1:p.Gly1216Arg
XM_017021473.1:c.2110G>A	XP_016876962.1:p.Gly704Arg
XM_024449663.1:c.2602G>A	XP_024305431.1:p.Gly868Arg
XM_024449664.1:c.2107G>A	XP_024305432.1:p.Gly703Arg
XM_024449665.1:c.1765G>A	XP_024305433.1:p.Gly589Arg
XM_024449666.1:c.1762G>A	XP_024305434.1:p.Gly588Arg