Canonical Allele Identifier: CA7089145
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 883035
dbSNP Id: rs543867152

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324918C>T , CM000676.2:g.21324918C>T GRCh38
NC_000014.8:g.21793077C>T , CM000676.1:g.21793077C>T GRCh37
NC_000014.7:g.20862917C>T NCBI36
NG_008933.1:g.41942C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2063C>T MANE Select ENSP00000382895.2:p.Ser688Leu
ENST00000382933.8:c.689-2705C>T ENSP00000372391.4:n.689-2705C>T
ENST00000400017.6:c.2063C>T ENSP00000382895.2:p.Ser688Leu
ENST00000553500.5:n.328+193C>T
ENST00000553927.1:n.995C>T
ENST00000555322.5:c.490C>T
ENST00000555489.5:c.256C>T ENSP00000451044.1:n.256C>T
ENST00000555587.5:c.488C>T ENSP00000451262.1:p.Ser163Leu
ENST00000556336.5:c.1682-2705C>T ENSP00000450445.1:n.1682-2705C>T
ENST00000557771.5:c.1949C>T ENSP00000451219.1:p.Ser650Leu
NM_020366.3:c.2063C>T NP_065099.3:p.Ser688Leu
XM_005267879.2:c.989C>T XP_005267936.1:p.Ser330Leu
XM_005267880.2:c.956C>T XP_005267937.1:p.Ser319Leu
XM_005267881.2:c.437C>T XP_005267938.1:p.Ser146Leu
XM_011536978.1:c.989C>T XP_011535280.1:p.Ser330Leu
XM_011536979.1:c.797-24C>T XP_011535281.1:n.797-24C>T
XM_011536980.1:c.796+193C>T XP_011535282.1:n.796+193C>T
XM_011536981.1:c.989C>T XP_011535283.1:p.Ser330Leu
XM_011536982.1:c.796+193C>T XP_011535284.1:n.796+193C>T
XM_011536983.1:c.2030C>T XP_011535285.1:p.Ser677Leu
XM_005267881.3:c.437C>T XP_005267938.1:p.Ser146Leu
XM_017021473.1:c.989C>T XP_016876962.1:p.Ser330Leu
XM_024449663.1:c.989C>T XP_024305431.1:p.Ser330Leu
XM_024449664.1:c.989C>T XP_024305432.1:p.Ser330Leu
XM_024449665.1:c.796+193C>T XP_024305433.1:n.796+193C>T
XM_024449666.1:c.796+193C>T XP_024305434.1:n.796+193C>T
NM_001377523.1:c.689-2705C>T NP_001364452.1:n.689-2705C>T
NM_001377948.1:c.989C>T NP_001364877.1:p.Ser330Leu
NM_001377949.1:c.796+193C>T NP_001364878.1:n.796+193C>T
NM_001377950.1:c.689-2705C>T NP_001364879.1:n.689-2705C>T
NM_001377951.1:c.191-2705C>T NP_001364880.1:n.191-2705C>T
NM_020366.4:c.2063C>T MANE Select NP_065099.3:p.Ser688Leu