Canonical Allele Identifier: CA7089219

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21325348G>A , CM000676.2:g.21325348G>A	GRCh38
NC_000014.8:g.21793507G>A , CM000676.1:g.21793507G>A	GRCh37
NC_000014.7:g.20863347G>A	NCBI36
NG_008933.1:g.42372G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.2332G>A MANE Select	NP_065099.3:p.Asp778Asn
ENST00000400017.7:c.2332G>A MANE Select	ENSP00000382895.2:p.Asp778Asn
NM_001377523.1:c.689-2275G>A	NP_001364452.1:n.689-2275G>A
NM_001377948.1:c.1258G>A	NP_001364877.1:p.Asp420Asn
NM_001377949.1:c.796+623G>A	NP_001364878.1:n.796+623G>A
NM_001377950.1:c.689-2275G>A	NP_001364879.1:n.689-2275G>A
NM_001377951.1:c.191-2275G>A	NP_001364880.1:n.191-2275G>A
NM_020366.3:c.2332G>A	NP_065099.3:p.Asp778Asn
ENST00000382933.8:c.689-2275G>A	ENSP00000372391.4:n.689-2275G>A
ENST00000400017.6:c.2332G>A	ENSP00000382895.2:p.Asp778Asn
ENST00000553500.5:n.445G>A
ENST00000553927.1:n.1264G>A
ENST00000555322.5:c.759G>A
ENST00000555489.5:c.525G>A	ENSP00000451044.1:n.525G>A
ENST00000555587.5:c.757G>A	ENSP00000451262.1:p.Asp253Asn
ENST00000556336.5:c.1682-2275G>A	ENSP00000450445.1:n.1682-2275G>A
ENST00000557771.5:c.2218G>A	ENSP00000451219.1:p.Asp740Asn
XM_005267879.2:c.1258G>A	XP_005267936.1:p.Asp420Asn
XM_005267880.2:c.1225G>A	XP_005267937.1:p.Asp409Asn
XM_005267881.2:c.706G>A	XP_005267938.1:p.Asp236Asn
XM_005267881.3:c.706G>A	XP_005267938.1:p.Asp236Asn
XM_011536978.1:c.1258G>A	XP_011535280.1:p.Asp420Asn
XM_011536979.1:c.1042G>A	XP_011535281.1:p.Asp348Asn
XM_011536980.1:c.913G>A	XP_011535282.1:p.Asp305Asn
XM_011536981.1:c.1141+278G>A	XP_011535283.1:n.1141+278G>A
XM_011536982.1:c.796+623G>A	XP_011535284.1:n.796+623G>A
XM_011536983.1:c.2299G>A	XP_011535285.1:p.Asp767Asn
XM_017021473.1:c.1141+278G>A	XP_016876962.1:n.1141+278G>A
XM_024449663.1:c.1258G>A	XP_024305431.1:p.Asp420Asn
XM_024449664.1:c.1141+278G>A	XP_024305432.1:n.1141+278G>A
XM_024449665.1:c.796+623G>A	XP_024305433.1:n.796+623G>A
XM_024449666.1:c.796+623G>A	XP_024305434.1:n.796+623G>A