Canonical Allele Identifier: CA7089301

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21326077A>G , CM000676.2:g.21326077A>G	GRCh38
NC_000014.8:g.21794236A>G , CM000676.1:g.21794236A>G	GRCh37
NC_000014.7:g.20864076A>G	NCBI36
NG_008933.1:g.43101A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.2614A>G MANE Select	NP_065099.3:p.Ile872Val
ENST00000400017.7:c.2614A>G MANE Select	ENSP00000382895.2:p.Ile872Val
NM_001377523.1:c.689-1546A>G	NP_001364452.1:n.689-1546A>G
NM_001377948.1:c.1540A>G	NP_001364877.1:p.Ile514Val
NM_001377949.1:c.796+1352A>G	NP_001364878.1:n.796+1352A>G
NM_001377950.1:c.689-1546A>G	NP_001364879.1:n.689-1546A>G
NM_001377951.1:c.191-1546A>G	NP_001364880.1:n.191-1546A>G
NM_020366.3:c.2614A>G	NP_065099.3:p.Ile872Val
ENST00000382933.8:c.689-1546A>G	ENSP00000372391.4:n.689-1546A>G
ENST00000400017.6:c.2614A>G	ENSP00000382895.2:p.Ile872Val
ENST00000553927.1:n.1546A>G
ENST00000555322.5:c.1041A>G
ENST00000555489.5:c.807A>G	ENSP00000451044.1:n.807A>G
ENST00000555587.5:c.1039A>G	ENSP00000451262.1:p.Ile347Val
ENST00000556336.5:c.1682-1546A>G	ENSP00000450445.1:n.1682-1546A>G
ENST00000557771.5:c.2500A>G	ENSP00000451219.1:p.Ile834Val
XM_005267879.2:c.1540A>G	XP_005267936.1:p.Ile514Val
XM_005267880.2:c.1507A>G	XP_005267937.1:p.Ile503Val
XM_005267881.2:c.988A>G	XP_005267938.1:p.Ile330Val
XM_005267881.3:c.988A>G	XP_005267938.1:p.Ile330Val
XM_011536978.1:c.1540A>G	XP_011535280.1:p.Ile514Val
XM_011536979.1:c.1324A>G	XP_011535281.1:p.Ile442Val
XM_011536980.1:c.1195A>G	XP_011535282.1:p.Ile399Val
XM_011536981.1:c.1141+1007A>G	XP_011535283.1:n.1141+1007A>G
XM_011536982.1:c.796+1352A>G	XP_011535284.1:n.796+1352A>G
XM_011536983.1:c.2581A>G	XP_011535285.1:p.Ile861Val
XM_017021473.1:c.1141+1007A>G	XP_016876962.1:n.1141+1007A>G
XM_024449663.1:c.1540A>G	XP_024305431.1:p.Ile514Val
XM_024449664.1:c.1141+1007A>G	XP_024305432.1:n.1141+1007A>G
XM_024449665.1:c.796+1352A>G	XP_024305433.1:n.796+1352A>G
XM_024449666.1:c.796+1352A>G	XP_024305434.1:n.796+1352A>G