Canonical Allele Identifier: CA388871914

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21328565G>A , CM000676.2:g.21328565G>A	GRCh38
NC_000014.8:g.21796724G>A , CM000676.1:g.21796724G>A	GRCh37
NC_000014.7:g.20866564G>A	NCBI36
NG_008933.1:g.45589G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.3037G>A MANE Select	NP_065099.3:p.Val1013Ile
ENST00000400017.7:c.3037G>A MANE Select	ENSP00000382895.2:p.Val1013Ile
NM_001377523.1:c.1015G>A	NP_001364452.1:p.Val339Ile
NM_001377948.1:c.1963G>A	NP_001364877.1:p.Val655Ile
NM_001377949.1:c.1123G>A	NP_001364878.1:p.Val375Ile
NM_001377950.1:c.1015G>A	NP_001364879.1:p.Val339Ile
NM_001377951.1:c.517G>A	NP_001364880.1:p.Val173Ile
NM_020366.3:c.3037G>A	NP_065099.3:p.Val1013Ile
ENST00000382933.8:c.1015G>A	ENSP00000372391.4:p.Val339Ile
ENST00000400017.6:c.3037G>A	ENSP00000382895.2:p.Val1013Ile
ENST00000553927.1:n.1969G>A
ENST00000555322.5:c.1464G>A
ENST00000555489.5:c.1230G>A	ENSP00000451044.1:n.1230G>A
ENST00000555587.5:c.1462G>A	ENSP00000451262.1:p.Val488Ile
ENST00000556336.5:c.2008G>A	ENSP00000450445.1:p.Val670Ile
ENST00000557771.5:c.2923G>A	ENSP00000451219.1:p.Val975Ile
XM_005267879.2:c.1963G>A	XP_005267936.1:p.Val655Ile
XM_005267880.2:c.1930G>A	XP_005267937.1:p.Val644Ile
XM_005267881.2:c.1411G>A	XP_005267938.1:p.Val471Ile
XM_005267881.3:c.1411G>A	XP_005267938.1:p.Val471Ile
XM_011536978.1:c.1963G>A	XP_011535280.1:p.Val655Ile
XM_011536979.1:c.1747G>A	XP_011535281.1:p.Val583Ile
XM_011536980.1:c.1618G>A	XP_011535282.1:p.Val540Ile
XM_011536981.1:c.1468G>A	XP_011535283.1:p.Val490Ile
XM_011536982.1:c.1123G>A	XP_011535284.1:p.Val375Ile
XM_011536983.1:c.3004G>A	XP_011535285.1:p.Val1002Ile
XM_017021473.1:c.1468G>A	XP_016876962.1:p.Val490Ile
XM_024449663.1:c.1963G>A	XP_024305431.1:p.Val655Ile
XM_024449664.1:c.1468G>A	XP_024305432.1:p.Val490Ile
XM_024449665.1:c.1123G>A	XP_024305433.1:p.Val375Ile
XM_024449666.1:c.1123G>A	XP_024305434.1:p.Val375Ile