Canonical Allele Identifier: CA227910
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99814
dbSNP Id: rs61751268

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21325253G>A , CM000676.2:g.21325253G>A GRCh38
NC_000014.8:g.21793412G>A , CM000676.1:g.21793412G>A GRCh37
NC_000014.7:g.20863252G>A NCBI36
NG_008933.1:g.42277G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2237G>A MANE Select ENSP00000382895.2:p.Gly746Glu
ENST00000382933.8:c.689-2370G>A ENSP00000372391.4:n.689-2370G>A
ENST00000400017.6:c.2237G>A ENSP00000382895.2:p.Gly746Glu
ENST00000553500.5:n.350G>A
ENST00000553927.1:n.1169G>A
ENST00000555322.5:c.664G>A
ENST00000555489.5:c.430G>A ENSP00000451044.1:n.430G>A
ENST00000555587.5:c.662G>A ENSP00000451262.1:p.Gly221Glu
ENST00000556336.5:c.1682-2370G>A ENSP00000450445.1:n.1682-2370G>A
ENST00000557771.5:c.2123G>A ENSP00000451219.1:p.Gly708Glu
NM_020366.3:c.2237G>A NP_065099.3:p.Gly746Glu
XM_005267879.2:c.1163G>A XP_005267936.1:p.Gly388Glu
XM_005267880.2:c.1130G>A XP_005267937.1:p.Gly377Glu
XM_005267881.2:c.611G>A XP_005267938.1:p.Gly204Glu
XM_011536978.1:c.1163G>A XP_011535280.1:p.Gly388Glu
XM_011536979.1:c.947G>A XP_011535281.1:p.Gly316Glu
XM_011536980.1:c.818G>A XP_011535282.1:p.Gly273Glu
XM_011536981.1:c.1141+183G>A XP_011535283.1:n.1141+183G>A
XM_011536982.1:c.796+528G>A XP_011535284.1:n.796+528G>A
XM_011536983.1:c.2204G>A XP_011535285.1:p.Gly735Glu
XM_005267881.3:c.611G>A XP_005267938.1:p.Gly204Glu
XM_017021473.1:c.1141+183G>A XP_016876962.1:n.1141+183G>A
XM_024449663.1:c.1163G>A XP_024305431.1:p.Gly388Glu
XM_024449664.1:c.1141+183G>A XP_024305432.1:n.1141+183G>A
XM_024449665.1:c.796+528G>A XP_024305433.1:n.796+528G>A
XM_024449666.1:c.796+528G>A XP_024305434.1:n.796+528G>A
NM_001377523.1:c.689-2370G>A NP_001364452.1:n.689-2370G>A
NM_001377948.1:c.1163G>A NP_001364877.1:p.Gly388Glu
NM_001377949.1:c.796+528G>A NP_001364878.1:n.796+528G>A
NM_001377950.1:c.689-2370G>A NP_001364879.1:n.689-2370G>A
NM_001377951.1:c.191-2370G>A NP_001364880.1:n.191-2370G>A
NM_020366.4:c.2237G>A MANE Select NP_065099.3:p.Gly746Glu