Canonical Allele Identifier: CA484986362
Gene: RPGRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.21793057G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324898G>A , CM000676.2:g.21324898G>A GRCh38
NC_000014.8:g.21793057G>A , CM000676.1:g.21793057G>A GRCh37
NC_000014.7:g.20862897G>A NCBI36
NG_008933.1:g.41922G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2043G>A MANE Select ENSP00000382895.2:p.Gln681=
ENST00000382933.8:c.689-2725G>A ENSP00000372391.4:n.689-2725G>A
ENST00000400017.6:c.2043G>A ENSP00000382895.2:p.Gln681=
ENST00000553500.5:n.328+173G>A
ENST00000553927.1:n.975G>A
ENST00000554303.1:c.429G>A ENSP00000450426.1:p.Gln143=
ENST00000555322.5:c.470G>A
ENST00000555489.5:c.236G>A ENSP00000451044.1:n.236G>A
ENST00000555587.5:c.468G>A ENSP00000451262.1:p.Gln156=
ENST00000556336.5:c.1682-2725G>A ENSP00000450445.1:n.1682-2725G>A
ENST00000557771.5:c.1929G>A ENSP00000451219.1:p.Gln643=
NM_020366.3:c.2043G>A NP_065099.3:p.Gln681=
XM_005267879.2:c.969G>A XP_005267936.1:p.Gln323=
XM_005267880.2:c.936G>A XP_005267937.1:p.Gln312=
XM_005267881.2:c.417G>A XP_005267938.1:p.Gln139=
XM_011536978.1:c.969G>A XP_011535280.1:p.Gln323=
XM_011536979.1:c.797-44G>A XP_011535281.1:n.797-44G>A
XM_011536980.1:c.796+173G>A XP_011535282.1:n.796+173G>A
XM_011536981.1:c.969G>A XP_011535283.1:p.Gln323=
XM_011536982.1:c.796+173G>A XP_011535284.1:n.796+173G>A
XM_011536983.1:c.2010G>A XP_011535285.1:p.Gln670=
XM_005267881.3:c.417G>A XP_005267938.1:p.Gln139=
XM_017021473.1:c.969G>A XP_016876962.1:p.Gln323=
XM_024449663.1:c.969G>A XP_024305431.1:p.Gln323=
XM_024449664.1:c.969G>A XP_024305432.1:p.Gln323=
XM_024449665.1:c.796+173G>A XP_024305433.1:n.796+173G>A
XM_024449666.1:c.796+173G>A XP_024305434.1:n.796+173G>A
NM_001377523.1:c.689-2725G>A NP_001364452.1:n.689-2725G>A
NM_001377948.1:c.969G>A NP_001364877.1:p.Gln323=
NM_001377949.1:c.796+173G>A NP_001364878.1:n.796+173G>A
NM_001377950.1:c.689-2725G>A NP_001364879.1:n.689-2725G>A
NM_001377951.1:c.191-2725G>A NP_001364880.1:n.191-2725G>A
NM_020366.4:c.2043G>A MANE Select NP_065099.3:p.Gln681=