Canonical Allele Identifier: CA2122460524
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324914G= , CM000676.2:g.21324914G= GRCh38
NC_000014.8:g.21793073G= , CM000676.1:g.21793073G= GRCh37
NC_000014.7:g.20862913G= NCBI36
NG_008933.1:g.41938G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2059G= MANE Select ENSP00000382895.2:p.Asp687=
ENST00000382933.8:c.689-2709G= ENSP00000372391.4:n.689-2709G=
ENST00000400017.6:c.2059G= ENSP00000382895.2:p.Asp687=
ENST00000553500.5:n.328+189G=
ENST00000553927.1:n.991G=
ENST00000555322.5:c.486G=
ENST00000555489.5:c.252G= ENSP00000451044.1:n.252G=
ENST00000555587.5:c.484G= ENSP00000451262.1:p.Asp162=
ENST00000556336.5:c.1682-2709G= ENSP00000450445.1:n.1682-2709G=
ENST00000557771.5:c.1945G= ENSP00000451219.1:p.Asp649=
NM_020366.3:c.2059G= NP_065099.3:p.Asp687=
XM_005267879.2:c.985G= XP_005267936.1:p.Asp329=
XM_005267880.2:c.952G= XP_005267937.1:p.Asp318=
XM_005267881.2:c.433G= XP_005267938.1:p.Asp145=
XM_011536978.1:c.985G= XP_011535280.1:p.Asp329=
XM_011536979.1:c.797-28G= XP_011535281.1:n.797-28G=
XM_011536980.1:c.796+189G= XP_011535282.1:n.796+189G=
XM_011536981.1:c.985G= XP_011535283.1:p.Asp329=
XM_011536982.1:c.796+189G= XP_011535284.1:n.796+189G=
XM_011536983.1:c.2026G= XP_011535285.1:p.Asp676=
XM_005267881.3:c.433G= XP_005267938.1:p.Asp145=
XM_017021473.1:c.985G= XP_016876962.1:p.Asp329=
XM_024449663.1:c.985G= XP_024305431.1:p.Asp329=
XM_024449664.1:c.985G= XP_024305432.1:p.Asp329=
XM_024449665.1:c.796+189G= XP_024305433.1:n.796+189G=
XM_024449666.1:c.796+189G= XP_024305434.1:n.796+189G=
NM_001377523.1:c.689-2709G= NP_001364452.1:n.689-2709G=
NM_001377948.1:c.985G= NP_001364877.1:p.Asp329=
NM_001377949.1:c.796+189G= NP_001364878.1:n.796+189G=
NM_001377950.1:c.689-2709G= NP_001364879.1:n.689-2709G=
NM_001377951.1:c.191-2709G= NP_001364880.1:n.191-2709G=
NM_020366.4:c.2059G= MANE Select NP_065099.3:p.Asp687=