Canonical Allele Identifier: CA388867828
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324928A>C , CM000676.2:g.21324928A>C GRCh38
NC_000014.8:g.21793087A>C , CM000676.1:g.21793087A>C GRCh37
NC_000014.7:g.20862927A>C NCBI36
NG_008933.1:g.41952A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2073A>C MANE Select ENSP00000382895.2:p.Leu691Phe
ENST00000382933.8:c.689-2695A>C ENSP00000372391.4:n.689-2695A>C
ENST00000400017.6:c.2073A>C ENSP00000382895.2:p.Leu691Phe
ENST00000553500.5:n.328+203A>C
ENST00000553927.1:n.1005A>C
ENST00000555322.5:c.500A>C
ENST00000555489.5:c.266A>C ENSP00000451044.1:n.266A>C
ENST00000555587.5:c.498A>C ENSP00000451262.1:p.Leu166Phe
ENST00000556336.5:c.1682-2695A>C ENSP00000450445.1:n.1682-2695A>C
ENST00000557771.5:c.1959A>C ENSP00000451219.1:p.Leu653Phe
NM_020366.3:c.2073A>C NP_065099.3:p.Leu691Phe
XM_005267879.2:c.999A>C XP_005267936.1:p.Leu333Phe
XM_005267880.2:c.966A>C XP_005267937.1:p.Leu322Phe
XM_005267881.2:c.447A>C XP_005267938.1:p.Leu149Phe
XM_011536978.1:c.999A>C XP_011535280.1:p.Leu333Phe
XM_011536979.1:c.797-14A>C XP_011535281.1:n.797-14A>C
XM_011536980.1:c.796+203A>C XP_011535282.1:n.796+203A>C
XM_011536981.1:c.999A>C XP_011535283.1:p.Leu333Phe
XM_011536982.1:c.796+203A>C XP_011535284.1:n.796+203A>C
XM_011536983.1:c.2040A>C XP_011535285.1:p.Leu680Phe
XM_005267881.3:c.447A>C XP_005267938.1:p.Leu149Phe
XM_017021473.1:c.999A>C XP_016876962.1:p.Leu333Phe
XM_024449663.1:c.999A>C XP_024305431.1:p.Leu333Phe
XM_024449664.1:c.999A>C XP_024305432.1:p.Leu333Phe
XM_024449665.1:c.796+203A>C XP_024305433.1:n.796+203A>C
XM_024449666.1:c.796+203A>C XP_024305434.1:n.796+203A>C
NM_001377523.1:c.689-2695A>C NP_001364452.1:n.689-2695A>C
NM_001377948.1:c.999A>C NP_001364877.1:p.Leu333Phe
NM_001377949.1:c.796+203A>C NP_001364878.1:n.796+203A>C
NM_001377950.1:c.689-2695A>C NP_001364879.1:n.689-2695A>C
NM_001377951.1:c.191-2695A>C NP_001364880.1:n.191-2695A>C
NM_020366.4:c.2073A>C MANE Select NP_065099.3:p.Leu691Phe