Canonical Allele Identifier: CA2122460548
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324930A= , CM000676.2:g.21324930A= GRCh38
NC_000014.8:g.21793089A= , CM000676.1:g.21793089A= GRCh37
NC_000014.7:g.20862929A= NCBI36
NG_008933.1:g.41954A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2075A= MANE Select ENSP00000382895.2:p.His692=
ENST00000382933.8:c.689-2693A= ENSP00000372391.4:n.689-2693A=
ENST00000400017.6:c.2075A= ENSP00000382895.2:p.His692=
ENST00000553500.5:n.328+205A=
ENST00000553927.1:n.1007A=
ENST00000555322.5:c.502A=
ENST00000555489.5:c.268A= ENSP00000451044.1:n.268A=
ENST00000555587.5:c.500A= ENSP00000451262.1:p.His167=
ENST00000556336.5:c.1682-2693A= ENSP00000450445.1:n.1682-2693A=
ENST00000557771.5:c.1961A= ENSP00000451219.1:p.His654=
NM_020366.3:c.2075A= NP_065099.3:p.His692=
XM_005267879.2:c.1001A= XP_005267936.1:p.His334=
XM_005267880.2:c.968A= XP_005267937.1:p.His323=
XM_005267881.2:c.449A= XP_005267938.1:p.His150=
XM_011536978.1:c.1001A= XP_011535280.1:p.His334=
XM_011536979.1:c.797-12A= XP_011535281.1:n.797-12A=
XM_011536980.1:c.796+205A= XP_011535282.1:n.796+205A=
XM_011536981.1:c.1001A= XP_011535283.1:p.His334=
XM_011536982.1:c.796+205A= XP_011535284.1:n.796+205A=
XM_011536983.1:c.2042A= XP_011535285.1:p.His681=
XM_005267881.3:c.449A= XP_005267938.1:p.His150=
XM_017021473.1:c.1001A= XP_016876962.1:p.His334=
XM_024449663.1:c.1001A= XP_024305431.1:p.His334=
XM_024449664.1:c.1001A= XP_024305432.1:p.His334=
XM_024449665.1:c.796+205A= XP_024305433.1:n.796+205A=
XM_024449666.1:c.796+205A= XP_024305434.1:n.796+205A=
NM_001377523.1:c.689-2693A= NP_001364452.1:n.689-2693A=
NM_001377948.1:c.1001A= NP_001364877.1:p.His334=
NM_001377949.1:c.796+205A= NP_001364878.1:n.796+205A=
NM_001377950.1:c.689-2693A= NP_001364879.1:n.689-2693A=
NM_001377951.1:c.191-2693A= NP_001364880.1:n.191-2693A=
NM_020366.4:c.2075A= MANE Select NP_065099.3:p.His692=