Canonical Allele Identifier: CA388867604
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324874G>T , CM000676.2:g.21324874G>T GRCh38
NC_000014.8:g.21793033G>T , CM000676.1:g.21793033G>T GRCh37
NC_000014.7:g.20862873G>T NCBI36
NG_008933.1:g.41898G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2019G>T MANE Select ENSP00000382895.2:p.Gln673His
ENST00000382933.8:c.689-2749G>T ENSP00000372391.4:n.689-2749G>T
ENST00000400017.6:c.2019G>T ENSP00000382895.2:p.Gln673His
ENST00000553500.5:n.328+149G>T
ENST00000553927.1:n.951G>T
ENST00000554303.1:c.405G>T ENSP00000450426.1:p.Gln135His
ENST00000555322.5:c.446G>T
ENST00000555489.5:c.213-1G>T ENSP00000451044.1:n.213-1G>T
ENST00000555587.5:c.444G>T ENSP00000451262.1:p.Gln148His
ENST00000556336.5:c.1682-2749G>T ENSP00000450445.1:n.1682-2749G>T
ENST00000557771.5:c.1905G>T ENSP00000451219.1:p.Gln635His
NM_020366.3:c.2019G>T NP_065099.3:p.Gln673His
XM_005267879.2:c.945G>T XP_005267936.1:p.Gln315His
XM_005267880.2:c.912G>T XP_005267937.1:p.Gln304His
XM_005267881.2:c.393G>T XP_005267938.1:p.Gln131His
XM_011536978.1:c.945G>T XP_011535280.1:p.Gln315His
XM_011536979.1:c.797-68G>T XP_011535281.1:n.797-68G>T
XM_011536980.1:c.796+149G>T XP_011535282.1:n.796+149G>T
XM_011536981.1:c.945G>T XP_011535283.1:p.Gln315His
XM_011536982.1:c.796+149G>T XP_011535284.1:n.796+149G>T
XM_011536983.1:c.1986G>T XP_011535285.1:p.Gln662His
XM_005267881.3:c.393G>T XP_005267938.1:p.Gln131His
XM_017021473.1:c.945G>T XP_016876962.1:p.Gln315His
XM_024449663.1:c.945G>T XP_024305431.1:p.Gln315His
XM_024449664.1:c.945G>T XP_024305432.1:p.Gln315His
XM_024449665.1:c.796+149G>T XP_024305433.1:n.796+149G>T
XM_024449666.1:c.796+149G>T XP_024305434.1:n.796+149G>T
NM_001377523.1:c.689-2749G>T NP_001364452.1:n.689-2749G>T
NM_001377948.1:c.945G>T NP_001364877.1:p.Gln315His
NM_001377949.1:c.796+149G>T NP_001364878.1:n.796+149G>T
NM_001377950.1:c.689-2749G>T NP_001364879.1:n.689-2749G>T
NM_001377951.1:c.191-2749G>T NP_001364880.1:n.191-2749G>T
NM_020366.4:c.2019G>T MANE Select NP_065099.3:p.Gln673His