Canonical Allele Identifier: CA227924

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21351135A>T , CM000676.2:g.21351135A>T	GRCh38
NC_000014.8:g.21819294A>T , CM000676.1:g.21819294A>T	GRCh37
NC_000014.7:g.20889134A>T	NCBI36
NG_008933.1:g.68159A>T
NG_009932.1:g.38132T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.3780A>T MANE Select	ENSP00000382895.2:p.Ile1260=
ENST00000382933.8:c.1758A>T	ENSP00000372391.4:p.Ile586=
ENST00000400017.6:c.3780A>T	ENSP00000382895.2:p.Ile1260=
ENST00000553927.1:n.2712A>T
ENST00000555322.5:c.2207A>T
ENST00000555489.5:c.1973A>T	ENSP00000451044.1:n.1973A>T
ENST00000555587.5:c.2205A>T	ENSP00000451262.1:p.Ile735=
ENST00000556336.5:c.2751A>T	ENSP00000450445.1:p.Ile917=
ENST00000557771.5:c.3666A>T	ENSP00000451219.1:p.Ile1222=
NM_020366.3:c.3780A>T	NP_065099.3:p.Ile1260=
XM_005267879.2:c.2709A>T	XP_005267936.1:p.Ile903=
XM_005267880.2:c.2676A>T	XP_005267937.1:p.Ile892=
XM_005267881.2:c.2157A>T	XP_005267938.1:p.Ile719=
XM_011536978.1:c.2706A>T	XP_011535280.1:p.Ile902=
XM_011536979.1:c.2493A>T	XP_011535281.1:p.Ile831=
XM_011536980.1:c.2364A>T	XP_011535282.1:p.Ile788=
XM_011536981.1:c.2214A>T	XP_011535283.1:p.Ile738=
XM_011536982.1:c.1869A>T	XP_011535284.1:p.Ile623=
XM_011536983.1:c.3747A>T	XP_011535285.1:p.Ile1249=
XM_005267881.3:c.2157A>T	XP_005267938.1:p.Ile719=
XM_017021473.1:c.2211A>T	XP_016876962.1:p.Ile737=
XM_024449663.1:c.2703A>T	XP_024305431.1:p.Ile901=
XM_024449664.1:c.2208A>T	XP_024305432.1:p.Ile736=
XM_024449665.1:c.1866A>T	XP_024305433.1:p.Ile622=
XM_024449666.1:c.1863A>T	XP_024305434.1:p.Ile621=
NM_001377523.1:c.1758A>T	NP_001364452.1:p.Ile586=
NM_001377948.1:c.2706A>T	NP_001364877.1:p.Ile902=
NM_001377949.1:c.1866A>T	NP_001364878.1:p.Ile622=
NM_001377950.1:c.1758A>T	NP_001364879.1:p.Ile586=
NM_001377951.1:c.1263A>T	NP_001364880.1:p.Ile421=
NM_020366.4:c.3780A>T MANE Select	NP_065099.3:p.Ile1260=