Canonical Allele Identifier: CA2122460497
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324892C= , CM000676.2:g.21324892C= GRCh38
NC_000014.8:g.21793051C= , CM000676.1:g.21793051C= GRCh37
NC_000014.7:g.20862891C= NCBI36
NG_008933.1:g.41916C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2037C= MANE Select ENSP00000382895.2:p.Thr679=
ENST00000382933.8:c.689-2731C= ENSP00000372391.4:n.689-2731C=
ENST00000400017.6:c.2037C= ENSP00000382895.2:p.Thr679=
ENST00000553500.5:n.328+167C=
ENST00000553927.1:n.969C=
ENST00000554303.1:c.423C= ENSP00000450426.1:p.Thr141=
ENST00000555322.5:c.464C=
ENST00000555489.5:c.230C= ENSP00000451044.1:n.230C=
ENST00000555587.5:c.462C= ENSP00000451262.1:p.Thr154=
ENST00000556336.5:c.1682-2731C= ENSP00000450445.1:n.1682-2731C=
ENST00000557771.5:c.1923C= ENSP00000451219.1:p.Thr641=
NM_020366.3:c.2037C= NP_065099.3:p.Thr679=
XM_005267879.2:c.963C= XP_005267936.1:p.Thr321=
XM_005267880.2:c.930C= XP_005267937.1:p.Thr310=
XM_005267881.2:c.411C= XP_005267938.1:p.Thr137=
XM_011536978.1:c.963C= XP_011535280.1:p.Thr321=
XM_011536979.1:c.797-50C= XP_011535281.1:n.797-50C=
XM_011536980.1:c.796+167C= XP_011535282.1:n.796+167C=
XM_011536981.1:c.963C= XP_011535283.1:p.Thr321=
XM_011536982.1:c.796+167C= XP_011535284.1:n.796+167C=
XM_011536983.1:c.2004C= XP_011535285.1:p.Thr668=
XM_005267881.3:c.411C= XP_005267938.1:p.Thr137=
XM_017021473.1:c.963C= XP_016876962.1:p.Thr321=
XM_024449663.1:c.963C= XP_024305431.1:p.Thr321=
XM_024449664.1:c.963C= XP_024305432.1:p.Thr321=
XM_024449665.1:c.796+167C= XP_024305433.1:n.796+167C=
XM_024449666.1:c.796+167C= XP_024305434.1:n.796+167C=
NM_001377523.1:c.689-2731C= NP_001364452.1:n.689-2731C=
NM_001377948.1:c.963C= NP_001364877.1:p.Thr321=
NM_001377949.1:c.796+167C= NP_001364878.1:n.796+167C=
NM_001377950.1:c.689-2731C= NP_001364879.1:n.689-2731C=
NM_001377951.1:c.191-2731C= NP_001364880.1:n.191-2731C=
NM_020366.4:c.2037C= MANE Select NP_065099.3:p.Thr679=