Canonical Allele Identifier: CA388867805
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324923T>C , CM000676.2:g.21324923T>C GRCh38
NC_000014.8:g.21793082T>C , CM000676.1:g.21793082T>C GRCh37
NC_000014.7:g.20862922T>C NCBI36
NG_008933.1:g.41947T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2068T>C MANE Select ENSP00000382895.2:p.Phe690Leu
ENST00000382933.8:c.689-2700T>C ENSP00000372391.4:n.689-2700T>C
ENST00000400017.6:c.2068T>C ENSP00000382895.2:p.Phe690Leu
ENST00000553500.5:n.328+198T>C
ENST00000553927.1:n.1000T>C
ENST00000555322.5:c.495T>C
ENST00000555489.5:c.261T>C ENSP00000451044.1:n.261T>C
ENST00000555587.5:c.493T>C ENSP00000451262.1:p.Phe165Leu
ENST00000556336.5:c.1682-2700T>C ENSP00000450445.1:n.1682-2700T>C
ENST00000557771.5:c.1954T>C ENSP00000451219.1:p.Phe652Leu
NM_020366.3:c.2068T>C NP_065099.3:p.Phe690Leu
XM_005267879.2:c.994T>C XP_005267936.1:p.Phe332Leu
XM_005267880.2:c.961T>C XP_005267937.1:p.Phe321Leu
XM_005267881.2:c.442T>C XP_005267938.1:p.Phe148Leu
XM_011536978.1:c.994T>C XP_011535280.1:p.Phe332Leu
XM_011536979.1:c.797-19T>C XP_011535281.1:n.797-19T>C
XM_011536980.1:c.796+198T>C XP_011535282.1:n.796+198T>C
XM_011536981.1:c.994T>C XP_011535283.1:p.Phe332Leu
XM_011536982.1:c.796+198T>C XP_011535284.1:n.796+198T>C
XM_011536983.1:c.2035T>C XP_011535285.1:p.Phe679Leu
XM_005267881.3:c.442T>C XP_005267938.1:p.Phe148Leu
XM_017021473.1:c.994T>C XP_016876962.1:p.Phe332Leu
XM_024449663.1:c.994T>C XP_024305431.1:p.Phe332Leu
XM_024449664.1:c.994T>C XP_024305432.1:p.Phe332Leu
XM_024449665.1:c.796+198T>C XP_024305433.1:n.796+198T>C
XM_024449666.1:c.796+198T>C XP_024305434.1:n.796+198T>C
NM_001377523.1:c.689-2700T>C NP_001364452.1:n.689-2700T>C
NM_001377948.1:c.994T>C NP_001364877.1:p.Phe332Leu
NM_001377949.1:c.796+198T>C NP_001364878.1:n.796+198T>C
NM_001377950.1:c.689-2700T>C NP_001364879.1:n.689-2700T>C
NM_001377951.1:c.191-2700T>C NP_001364880.1:n.191-2700T>C
NM_020366.4:c.2068T>C MANE Select NP_065099.3:p.Phe690Leu