Canonical Allele Identifier: CA2122460519
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324912C= , CM000676.2:g.21324912C= GRCh38
NC_000014.8:g.21793071C= , CM000676.1:g.21793071C= GRCh37
NC_000014.7:g.20862911C= NCBI36
NG_008933.1:g.41936C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2057C= MANE Select ENSP00000382895.2:p.Thr686=
ENST00000382933.8:c.689-2711C= ENSP00000372391.4:n.689-2711C=
ENST00000400017.6:c.2057C= ENSP00000382895.2:p.Thr686=
ENST00000553500.5:n.328+187C=
ENST00000553927.1:n.989C=
ENST00000555322.5:c.484C=
ENST00000555489.5:c.250C= ENSP00000451044.1:n.250C=
ENST00000555587.5:c.482C= ENSP00000451262.1:p.Thr161=
ENST00000556336.5:c.1682-2711C= ENSP00000450445.1:n.1682-2711C=
ENST00000557771.5:c.1943C= ENSP00000451219.1:p.Thr648=
NM_020366.3:c.2057C= NP_065099.3:p.Thr686=
XM_005267879.2:c.983C= XP_005267936.1:p.Thr328=
XM_005267880.2:c.950C= XP_005267937.1:p.Thr317=
XM_005267881.2:c.431C= XP_005267938.1:p.Thr144=
XM_011536978.1:c.983C= XP_011535280.1:p.Thr328=
XM_011536979.1:c.797-30C= XP_011535281.1:n.797-30C=
XM_011536980.1:c.796+187C= XP_011535282.1:n.796+187C=
XM_011536981.1:c.983C= XP_011535283.1:p.Thr328=
XM_011536982.1:c.796+187C= XP_011535284.1:n.796+187C=
XM_011536983.1:c.2024C= XP_011535285.1:p.Thr675=
XM_005267881.3:c.431C= XP_005267938.1:p.Thr144=
XM_017021473.1:c.983C= XP_016876962.1:p.Thr328=
XM_024449663.1:c.983C= XP_024305431.1:p.Thr328=
XM_024449664.1:c.983C= XP_024305432.1:p.Thr328=
XM_024449665.1:c.796+187C= XP_024305433.1:n.796+187C=
XM_024449666.1:c.796+187C= XP_024305434.1:n.796+187C=
NM_001377523.1:c.689-2711C= NP_001364452.1:n.689-2711C=
NM_001377948.1:c.983C= NP_001364877.1:p.Thr328=
NM_001377949.1:c.796+187C= NP_001364878.1:n.796+187C=
NM_001377950.1:c.689-2711C= NP_001364879.1:n.689-2711C=
NM_001377951.1:c.191-2711C= NP_001364880.1:n.191-2711C=
NM_020366.4:c.2057C= MANE Select NP_065099.3:p.Thr686=