Canonical Allele Identifier: CA388872386

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21330388G>A , CM000676.2:g.21330388G>A	GRCh38
NC_000014.8:g.21798547G>A , CM000676.1:g.21798547G>A	GRCh37
NC_000014.7:g.20868387G>A	NCBI36
NG_008933.1:g.47412G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.3238+1G>A MANE Select	NP_065099.3:n.3238+1G>A
ENST00000400017.7:c.3238+1G>A MANE Select	ENSP00000382895.2:n.3238+1G>A
NM_001377523.1:c.1216+1G>A	NP_001364452.1:n.1216+1G>A
NM_001377948.1:c.2164+1G>A	NP_001364877.1:n.2164+1G>A
NM_001377949.1:c.1324+1G>A	NP_001364878.1:n.1324+1G>A
NM_001377950.1:c.1213+1G>A	NP_001364879.1:n.1213+1G>A
NM_001377951.1:c.718+1G>A	NP_001364880.1:n.718+1G>A
NM_020366.3:c.3238+1G>A	NP_065099.3:n.3238+1G>A
ENST00000382933.8:c.1216+1G>A	ENSP00000372391.4:n.1216+1G>A
ENST00000400017.6:c.3238+1G>A	ENSP00000382895.2:n.3238+1G>A
ENST00000553927.1:n.2170+1G>A
ENST00000555322.5:c.1665+1G>A
ENST00000555489.5:c.1431+1G>A	ENSP00000451044.1:n.1431+1G>A
ENST00000555587.5:c.1663+1G>A	ENSP00000451262.1:n.1663+1G>A
ENST00000556336.5:c.2209+1G>A	ENSP00000450445.1:n.2209+1G>A
ENST00000557606.1:c.168+1G>A
ENST00000557771.5:c.3124+1G>A	ENSP00000451219.1:n.3124+1G>A
XM_005267879.2:c.2164+1G>A	XP_005267936.1:n.2164+1G>A
XM_005267880.2:c.2131+1G>A	XP_005267937.1:n.2131+1G>A
XM_005267881.2:c.1612+1G>A	XP_005267938.1:n.1612+1G>A
XM_005267881.3:c.1612+1G>A	XP_005267938.1:n.1612+1G>A
XM_011536978.1:c.2161+1G>A	XP_011535280.1:n.2161+1G>A
XM_011536979.1:c.1948+1G>A	XP_011535281.1:n.1948+1G>A
XM_011536980.1:c.1819+1G>A	XP_011535282.1:n.1819+1G>A
XM_011536981.1:c.1669+1G>A	XP_011535283.1:n.1669+1G>A
XM_011536982.1:c.1324+1G>A	XP_011535284.1:n.1324+1G>A
XM_011536983.1:c.3205+1G>A	XP_011535285.1:n.3205+1G>A
XM_017021473.1:c.1666+1G>A	XP_016876962.1:n.1666+1G>A
XM_024449663.1:c.2161+1G>A	XP_024305431.1:n.2161+1G>A
XM_024449664.1:c.1666+1G>A	XP_024305432.1:n.1666+1G>A
XM_024449665.1:c.1324+1G>A	XP_024305433.1:n.1324+1G>A
XM_024449666.1:c.1321+1G>A	XP_024305434.1:n.1321+1G>A