Canonical Allele Identifier: CA7089212
Community Standard Title: NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21325318C>T , CM000676.2:g.21325318C>T GRCh38
NC_000014.8:g.21793477C>T , CM000676.1:g.21793477C>T GRCh37
NC_000014.7:g.20863317C>T NCBI36
NG_008933.1:g.42342C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.2302C>T MANE Select NP_065099.3:p.Arg768Ter
ENST00000400017.7:c.2302C>T MANE Select ENSP00000382895.2:p.Arg768Ter
NM_001377523.1:c.689-2305C>T NP_001364452.1:n.689-2305C>T
NM_001377948.1:c.1228C>T NP_001364877.1:p.Arg410Ter
NM_001377949.1:c.796+593C>T NP_001364878.1:n.796+593C>T
NM_001377950.1:c.689-2305C>T NP_001364879.1:n.689-2305C>T
NM_001377951.1:c.191-2305C>T NP_001364880.1:n.191-2305C>T
NM_020366.3:c.2302C>T NP_065099.3:p.Arg768Ter
ENST00000382933.8:c.689-2305C>T ENSP00000372391.4:n.689-2305C>T
ENST00000400017.6:c.2302C>T ENSP00000382895.2:p.Arg768Ter
ENST00000553500.5:n.415C>T
ENST00000553927.1:n.1234C>T
ENST00000555322.5:c.729C>T
ENST00000555489.5:c.495C>T ENSP00000451044.1:n.495C>T
ENST00000555587.5:c.727C>T ENSP00000451262.1:p.Arg243Ter
ENST00000556336.5:c.1682-2305C>T ENSP00000450445.1:n.1682-2305C>T
ENST00000557771.5:c.2188C>T ENSP00000451219.1:p.Arg730Ter
XM_005267879.2:c.1228C>T XP_005267936.1:p.Arg410Ter
XM_005267880.2:c.1195C>T XP_005267937.1:p.Arg399Ter
XM_005267881.2:c.676C>T XP_005267938.1:p.Arg226Ter
XM_005267881.3:c.676C>T XP_005267938.1:p.Arg226Ter
XM_011536978.1:c.1228C>T XP_011535280.1:p.Arg410Ter
XM_011536979.1:c.1012C>T XP_011535281.1:p.Arg338Ter
XM_011536980.1:c.883C>T XP_011535282.1:p.Arg295Ter
XM_011536981.1:c.1141+248C>T XP_011535283.1:n.1141+248C>T
XM_011536982.1:c.796+593C>T XP_011535284.1:n.796+593C>T
XM_011536983.1:c.2269C>T XP_011535285.1:p.Arg757Ter
XM_017021473.1:c.1141+248C>T XP_016876962.1:n.1141+248C>T
XM_024449663.1:c.1228C>T XP_024305431.1:p.Arg410Ter
XM_024449664.1:c.1141+248C>T XP_024305432.1:n.1141+248C>T
XM_024449665.1:c.796+593C>T XP_024305433.1:n.796+593C>T
XM_024449666.1:c.796+593C>T XP_024305434.1:n.796+593C>T