Canonical Allele Identifier: CA7089555
Community Standard Title: NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21345151C>T , CM000676.2:g.21345151C>T GRCh38
NC_000014.8:g.21813310C>T , CM000676.1:g.21813310C>T GRCh37
NC_000014.7:g.20883150C>T NCBI36
NG_008933.1:g.62175C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.3571C>T MANE Select NP_065099.3:p.Arg1191Trp
ENST00000400017.7:c.3571C>T MANE Select ENSP00000382895.2:p.Arg1191Trp
NM_001377523.1:c.1549C>T NP_001364452.1:p.Arg517Trp
NM_001377948.1:c.2497C>T NP_001364877.1:p.Arg833Trp
NM_001377949.1:c.1657C>T NP_001364878.1:p.Arg553Trp
NM_001377950.1:c.1549C>T NP_001364879.1:p.Arg517Trp
NM_001377951.1:c.1054C>T NP_001364880.1:p.Arg352Trp
NM_020366.3:c.3571C>T NP_065099.3:p.Arg1191Trp
ENST00000382933.8:c.1549C>T ENSP00000372391.4:p.Arg517Trp
ENST00000400017.6:c.3571C>T ENSP00000382895.2:p.Arg1191Trp
ENST00000553927.1:n.2503C>T
ENST00000555322.5:c.1998C>T
ENST00000555489.5:c.1764C>T ENSP00000451044.1:n.1764C>T
ENST00000555587.5:c.1996C>T ENSP00000451262.1:p.Arg666Trp
ENST00000556336.5:c.2542C>T ENSP00000450445.1:p.Arg848Trp
ENST00000557771.5:c.3457C>T ENSP00000451219.1:p.Arg1153Trp
XM_005267879.2:c.2500C>T XP_005267936.1:p.Arg834Trp
XM_005267880.2:c.2467C>T XP_005267937.1:p.Arg823Trp
XM_005267881.2:c.1948C>T XP_005267938.1:p.Arg650Trp
XM_005267881.3:c.1948C>T XP_005267938.1:p.Arg650Trp
XM_011536978.1:c.2497C>T XP_011535280.1:p.Arg833Trp
XM_011536979.1:c.2284C>T XP_011535281.1:p.Arg762Trp
XM_011536980.1:c.2155C>T XP_011535282.1:p.Arg719Trp
XM_011536981.1:c.2005C>T XP_011535283.1:p.Arg669Trp
XM_011536982.1:c.1660C>T XP_011535284.1:p.Arg554Trp
XM_011536983.1:c.3538C>T XP_011535285.1:p.Arg1180Trp
XM_017021473.1:c.2002C>T XP_016876962.1:p.Arg668Trp
XM_024449663.1:c.2494C>T XP_024305431.1:p.Arg832Trp
XM_024449664.1:c.1999C>T XP_024305432.1:p.Arg667Trp
XM_024449665.1:c.1657C>T XP_024305433.1:p.Arg553Trp
XM_024449666.1:c.1654C>T XP_024305434.1:p.Arg552Trp