Canonical Allele Identifier: CA1630856005

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21321881G= , CM000676.2:g.21321881G=	GRCh38
NC_000014.8:g.21790040G= , CM000676.1:g.21790040G=	GRCh37
NC_000014.7:g.20859880G=	NCBI36
NG_008933.1:g.38905G=

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.1639G= MANE Select	NP_065099.3:p.Ala547=
ENST00000400017.7:c.1639G= MANE Select	ENSP00000382895.2:p.Ala547=
NM_001377523.1:c.565G=	NP_001364452.1:p.Ala189=
NM_001377948.1:c.565G=	NP_001364877.1:p.Ala189=
NM_001377949.1:c.565G=	NP_001364878.1:p.Ala189=
NM_001377950.1:c.565G=	NP_001364879.1:p.Ala189=
NM_001377951.1:c.67G=	NP_001364880.1:p.Ala23=
NM_020366.3:c.1639G=	NP_065099.3:p.Ala547=
ENST00000382933.8:c.565G=	ENSP00000372391.4:p.Ala189=
ENST00000400017.6:c.1639G=	ENSP00000382895.2:p.Ala547=
ENST00000553500.5:n.97G=
ENST00000554303.1:c.58G=	ENSP00000450426.1:p.Ala20=
ENST00000555322.5:c.173G=
ENST00000555587.5:c.64G=	ENSP00000451262.1:p.Ala22=
ENST00000556336.5:c.1558G=	ENSP00000450445.1:p.Ala520=
ENST00000557771.5:c.1558G=	ENSP00000451219.1:p.Ala520=
XM_005267879.2:c.565G=	XP_005267936.1:p.Ala189=
XM_005267880.2:c.565G=	XP_005267937.1:p.Ala189=
XM_005267881.2:c.13G=	XP_005267938.1:p.Ala5=
XM_005267881.3:c.13G=	XP_005267938.1:p.Ala5=
XM_011536978.1:c.565G=	XP_011535280.1:p.Ala189=
XM_011536979.1:c.565G=	XP_011535281.1:p.Ala189=
XM_011536980.1:c.565G=	XP_011535282.1:p.Ala189=
XM_011536981.1:c.565G=	XP_011535283.1:p.Ala189=
XM_011536982.1:c.565G=	XP_011535284.1:p.Ala189=
XM_011536983.1:c.1606G=	XP_011535285.1:p.Ala536=
XM_017021473.1:c.565G=	XP_016876962.1:p.Ala189=
XM_024449663.1:c.565G=	XP_024305431.1:p.Ala189=
XM_024449664.1:c.565G=	XP_024305432.1:p.Ala189=
XM_024449665.1:c.565G=	XP_024305433.1:p.Ala189=
XM_024449666.1:c.565G=	XP_024305434.1:p.Ala189=