Canonical Allele Identifier: CA388866914
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324674C>A , CM000676.2:g.21324674C>A GRCh38
NC_000014.8:g.21792833C>A , CM000676.1:g.21792833C>A GRCh37
NC_000014.7:g.20862673C>A NCBI36
NG_008933.1:g.41698C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1819C>A MANE Select ENSP00000382895.2:p.Leu607Met
ENST00000382933.8:c.688+2670C>A ENSP00000372391.4:n.688+2670C>A
ENST00000400017.6:c.1819C>A ENSP00000382895.2:p.Leu607Met
ENST00000553500.5:n.277C>A
ENST00000553927.1:n.751C>A
ENST00000554303.1:c.205C>A ENSP00000450426.1:p.Leu69Met
ENST00000555322.5:c.297-51C>A
ENST00000555489.5:c.161C>A ENSP00000451044.1:p.Thr54Asn
ENST00000555587.5:c.244C>A ENSP00000451262.1:p.Leu82Met
ENST00000556336.5:c.1681+2670C>A ENSP00000450445.1:n.1681+2670C>A
ENST00000557771.5:c.1705C>A ENSP00000451219.1:p.Leu569Met
NM_020366.3:c.1819C>A NP_065099.3:p.Leu607Met
XM_005267879.2:c.745C>A XP_005267936.1:p.Leu249Met
XM_005267880.2:c.712C>A XP_005267937.1:p.Leu238Met
XM_005267881.2:c.193C>A XP_005267938.1:p.Leu65Met
XM_011536978.1:c.745C>A XP_011535280.1:p.Leu249Met
XM_011536979.1:c.745C>A XP_011535281.1:p.Leu249Met
XM_011536980.1:c.745C>A XP_011535282.1:p.Leu249Met
XM_011536981.1:c.745C>A XP_011535283.1:p.Leu249Met
XM_011536982.1:c.745C>A XP_011535284.1:p.Leu249Met
XM_011536983.1:c.1786C>A XP_011535285.1:p.Leu596Met
XM_005267881.3:c.193C>A XP_005267938.1:p.Leu65Met
XM_017021473.1:c.745C>A XP_016876962.1:p.Leu249Met
XM_024449663.1:c.745C>A XP_024305431.1:p.Leu249Met
XM_024449664.1:c.745C>A XP_024305432.1:p.Leu249Met
XM_024449665.1:c.745C>A XP_024305433.1:p.Leu249Met
XM_024449666.1:c.745C>A XP_024305434.1:p.Leu249Met
NM_001377523.1:c.688+2670C>A NP_001364452.1:n.688+2670C>A
NM_001377948.1:c.745C>A NP_001364877.1:p.Leu249Met
NM_001377949.1:c.745C>A NP_001364878.1:p.Leu249Met
NM_001377950.1:c.688+2670C>A NP_001364879.1:n.688+2670C>A
NM_001377951.1:c.190+2670C>A NP_001364880.1:n.190+2670C>A
NM_020366.4:c.1819C>A MANE Select NP_065099.3:p.Leu607Met