Canonical Allele Identifier: CA227920

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21345126C>T , CM000676.2:g.21345126C>T	GRCh38
NC_000014.8:g.21813285C>T , CM000676.1:g.21813285C>T	GRCh37
NC_000014.7:g.20883125C>T	NCBI36
NG_008933.1:g.62150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.3546C>T MANE Select	ENSP00000382895.2:p.Asp1182=
ENST00000382933.8:c.1524C>T	ENSP00000372391.4:p.Asp508=
ENST00000400017.6:c.3546C>T	ENSP00000382895.2:p.Asp1182=
ENST00000553927.1:n.2478C>T
ENST00000555322.5:c.1973C>T
ENST00000555489.5:c.1739C>T	ENSP00000451044.1:n.1739C>T
ENST00000555587.5:c.1971C>T	ENSP00000451262.1:p.Asp657=
ENST00000556336.5:c.2517C>T	ENSP00000450445.1:p.Asp839=
ENST00000557771.5:c.3432C>T	ENSP00000451219.1:p.Asp1144=
NM_020366.3:c.3546C>T	NP_065099.3:p.Asp1182=
XM_005267879.2:c.2475C>T	XP_005267936.1:p.Asp825=
XM_005267880.2:c.2442C>T	XP_005267937.1:p.Asp814=
XM_005267881.2:c.1923C>T	XP_005267938.1:p.Asp641=
XM_011536978.1:c.2472C>T	XP_011535280.1:p.Asp824=
XM_011536979.1:c.2259C>T	XP_011535281.1:p.Asp753=
XM_011536980.1:c.2130C>T	XP_011535282.1:p.Asp710=
XM_011536981.1:c.1980C>T	XP_011535283.1:p.Asp660=
XM_011536982.1:c.1635C>T	XP_011535284.1:p.Asp545=
XM_011536983.1:c.3513C>T	XP_011535285.1:p.Asp1171=
XM_005267881.3:c.1923C>T	XP_005267938.1:p.Asp641=
XM_017021473.1:c.1977C>T	XP_016876962.1:p.Asp659=
XM_024449663.1:c.2469C>T	XP_024305431.1:p.Asp823=
XM_024449664.1:c.1974C>T	XP_024305432.1:p.Asp658=
XM_024449665.1:c.1632C>T	XP_024305433.1:p.Asp544=
XM_024449666.1:c.1629C>T	XP_024305434.1:p.Asp543=
NM_001377523.1:c.1524C>T	NP_001364452.1:p.Asp508=
NM_001377948.1:c.2472C>T	NP_001364877.1:p.Asp824=
NM_001377949.1:c.1632C>T	NP_001364878.1:p.Asp544=
NM_001377950.1:c.1524C>T	NP_001364879.1:p.Asp508=
NM_001377951.1:c.1029C>T	NP_001364880.1:p.Asp343=
NM_020366.4:c.3546C>T MANE Select	NP_065099.3:p.Asp1182=