Canonical Allele Identifier: CA7089439
Community Standard Title: NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21330320C>T , CM000676.2:g.21330320C>T GRCh38
NC_000014.8:g.21798479C>T , CM000676.1:g.21798479C>T GRCh37
NC_000014.7:g.20868319C>T NCBI36
NG_008933.1:g.47344C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.3171C>T MANE Select NP_065099.3:p.His1057=
ENST00000400017.7:c.3171C>T MANE Select ENSP00000382895.2:p.His1057=
NM_001377523.1:c.1149C>T NP_001364452.1:p.His383=
NM_001377948.1:c.2097C>T NP_001364877.1:p.His699=
NM_001377949.1:c.1257C>T NP_001364878.1:p.His419=
NM_001377950.1:c.1146C>T NP_001364879.1:p.His382=
NM_001377951.1:c.651C>T NP_001364880.1:p.His217=
NM_020366.3:c.3171C>T NP_065099.3:p.His1057=
ENST00000382933.8:c.1149C>T ENSP00000372391.4:p.His383=
ENST00000400017.6:c.3171C>T ENSP00000382895.2:p.His1057=
ENST00000553927.1:n.2103C>T
ENST00000555322.5:c.1598C>T
ENST00000555489.5:c.1364C>T ENSP00000451044.1:n.1364C>T
ENST00000555587.5:c.1596C>T ENSP00000451262.1:p.His532=
ENST00000556336.5:c.2142C>T ENSP00000450445.1:p.His714=
ENST00000557606.1:c.101C>T
ENST00000557771.5:c.3057C>T ENSP00000451219.1:p.His1019=
XM_005267879.2:c.2097C>T XP_005267936.1:p.His699=
XM_005267880.2:c.2064C>T XP_005267937.1:p.His688=
XM_005267881.2:c.1545C>T XP_005267938.1:p.His515=
XM_005267881.3:c.1545C>T XP_005267938.1:p.His515=
XM_011536978.1:c.2094C>T XP_011535280.1:p.His698=
XM_011536979.1:c.1881C>T XP_011535281.1:p.His627=
XM_011536980.1:c.1752C>T XP_011535282.1:p.His584=
XM_011536981.1:c.1602C>T XP_011535283.1:p.His534=
XM_011536982.1:c.1257C>T XP_011535284.1:p.His419=
XM_011536983.1:c.3138C>T XP_011535285.1:p.His1046=
XM_017021473.1:c.1599C>T XP_016876962.1:p.His533=
XM_024449663.1:c.2094C>T XP_024305431.1:p.His698=
XM_024449664.1:c.1599C>T XP_024305432.1:p.His533=
XM_024449665.1:c.1257C>T XP_024305433.1:p.His419=
XM_024449666.1:c.1254C>T XP_024305434.1:p.His418=