Canonical Allele Identifier: CA388867865
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324936T>A , CM000676.2:g.21324936T>A GRCh38
NC_000014.8:g.21793095T>A , CM000676.1:g.21793095T>A GRCh37
NC_000014.7:g.20862935T>A NCBI36
NG_008933.1:g.41960T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2081T>A MANE Select ENSP00000382895.2:p.Leu694His
ENST00000382933.8:c.689-2687T>A ENSP00000372391.4:n.689-2687T>A
ENST00000400017.6:c.2081T>A ENSP00000382895.2:p.Leu694His
ENST00000553500.5:n.328+211T>A
ENST00000553927.1:n.1013T>A
ENST00000555322.5:c.508T>A
ENST00000555489.5:c.274T>A ENSP00000451044.1:n.274T>A
ENST00000555587.5:c.506T>A ENSP00000451262.1:p.Leu169His
ENST00000556336.5:c.1682-2687T>A ENSP00000450445.1:n.1682-2687T>A
ENST00000557771.5:c.1967T>A ENSP00000451219.1:p.Leu656His
NM_020366.3:c.2081T>A NP_065099.3:p.Leu694His
XM_005267879.2:c.1007T>A XP_005267936.1:p.Leu336His
XM_005267880.2:c.974T>A XP_005267937.1:p.Leu325His
XM_005267881.2:c.455T>A XP_005267938.1:p.Leu152His
XM_011536978.1:c.1007T>A XP_011535280.1:p.Leu336His
XM_011536979.1:c.797-6T>A XP_011535281.1:n.797-6T>A
XM_011536980.1:c.796+211T>A XP_011535282.1:n.796+211T>A
XM_011536981.1:c.1007T>A XP_011535283.1:p.Leu336His
XM_011536982.1:c.796+211T>A XP_011535284.1:n.796+211T>A
XM_011536983.1:c.2048T>A XP_011535285.1:p.Leu683His
XM_005267881.3:c.455T>A XP_005267938.1:p.Leu152His
XM_017021473.1:c.1007T>A XP_016876962.1:p.Leu336His
XM_024449663.1:c.1007T>A XP_024305431.1:p.Leu336His
XM_024449664.1:c.1007T>A XP_024305432.1:p.Leu336His
XM_024449665.1:c.796+211T>A XP_024305433.1:n.796+211T>A
XM_024449666.1:c.796+211T>A XP_024305434.1:n.796+211T>A
NM_001377523.1:c.689-2687T>A NP_001364452.1:n.689-2687T>A
NM_001377948.1:c.1007T>A NP_001364877.1:p.Leu336His
NM_001377949.1:c.796+211T>A NP_001364878.1:n.796+211T>A
NM_001377950.1:c.689-2687T>A NP_001364879.1:n.689-2687T>A
NM_001377951.1:c.191-2687T>A NP_001364880.1:n.191-2687T>A
NM_020366.4:c.2081T>A MANE Select NP_065099.3:p.Leu694His