Canonical Allele Identifier: CA2122460552
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324931C= , CM000676.2:g.21324931C= GRCh38
NC_000014.8:g.21793090C= , CM000676.1:g.21793090C= GRCh37
NC_000014.7:g.20862930C= NCBI36
NG_008933.1:g.41955C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2076C= MANE Select ENSP00000382895.2:p.His692=
ENST00000382933.8:c.689-2692C= ENSP00000372391.4:n.689-2692C=
ENST00000400017.6:c.2076C= ENSP00000382895.2:p.His692=
ENST00000553500.5:n.328+206C=
ENST00000553927.1:n.1008C=
ENST00000555322.5:c.503C=
ENST00000555489.5:c.269C= ENSP00000451044.1:n.269C=
ENST00000555587.5:c.501C= ENSP00000451262.1:p.His167=
ENST00000556336.5:c.1682-2692C= ENSP00000450445.1:n.1682-2692C=
ENST00000557771.5:c.1962C= ENSP00000451219.1:p.His654=
NM_020366.3:c.2076C= NP_065099.3:p.His692=
XM_005267879.2:c.1002C= XP_005267936.1:p.His334=
XM_005267880.2:c.969C= XP_005267937.1:p.His323=
XM_005267881.2:c.450C= XP_005267938.1:p.His150=
XM_011536978.1:c.1002C= XP_011535280.1:p.His334=
XM_011536979.1:c.797-11C= XP_011535281.1:n.797-11C=
XM_011536980.1:c.796+206C= XP_011535282.1:n.796+206C=
XM_011536981.1:c.1002C= XP_011535283.1:p.His334=
XM_011536982.1:c.796+206C= XP_011535284.1:n.796+206C=
XM_011536983.1:c.2043C= XP_011535285.1:p.His681=
XM_005267881.3:c.450C= XP_005267938.1:p.His150=
XM_017021473.1:c.1002C= XP_016876962.1:p.His334=
XM_024449663.1:c.1002C= XP_024305431.1:p.His334=
XM_024449664.1:c.1002C= XP_024305432.1:p.His334=
XM_024449665.1:c.796+206C= XP_024305433.1:n.796+206C=
XM_024449666.1:c.796+206C= XP_024305434.1:n.796+206C=
NM_001377523.1:c.689-2692C= NP_001364452.1:n.689-2692C=
NM_001377948.1:c.1002C= NP_001364877.1:p.His334=
NM_001377949.1:c.796+206C= NP_001364878.1:n.796+206C=
NM_001377950.1:c.689-2692C= NP_001364879.1:n.689-2692C=
NM_001377951.1:c.191-2692C= NP_001364880.1:n.191-2692C=
NM_020366.4:c.2076C= MANE Select NP_065099.3:p.His692=