Canonical Allele Identifier: CA201070
Gene: RPGRIP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4987
dbSNP Id: rs10151259

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21321881G>T , CM000676.2:g.21321881G>T GRCh38
NC_000014.8:g.21790040G>T , CM000676.1:g.21790040G>T GRCh37
NC_000014.7:g.20859880G>T NCBI36
NG_008933.1:g.38905G>T

Transcript Alleles

HGVS Amino-acid change
NM_020366.3:n.1639G>T VV NP_065099.3:p.Ala547Ser
XM_005267879.2:c.565G>T XP_005267936.1:p.Ala189Ser
XM_005267880.2:c.565G>T XP_005267937.1:p.Ala189Ser
XM_005267881.2:c.13G>T XP_005267938.1:p.Ala5Ser
XM_011536978.1:c.565G>T XP_011535280.1:p.Ala189Ser
XM_011536979.1:c.565G>T XP_011535281.1:p.Ala189Ser
XM_011536980.1:c.565G>T XP_011535282.1:p.Ala189Ser
XM_011536981.1:c.565G>T XP_011535283.1:p.Ala189Ser
XM_011536982.1:c.565G>T XP_011535284.1:p.Ala189Ser
XM_011536983.1:c.1606G>T XP_011535285.1:p.Ala536Ser
XM_005267881.3:c.13G>T XP_005267938.1:p.Ala5Ser
XM_017021473.1:c.565G>T XP_016876962.1:p.Ala189Ser
XM_024449663.1:c.565G>T XP_024305431.1:p.Ala189Ser
XM_024449664.1:c.565G>T XP_024305432.1:p.Ala189Ser
XM_024449665.1:c.565G>T XP_024305433.1:p.Ala189Ser
XM_024449666.1:c.565G>T XP_024305434.1:p.Ala189Ser
ENST00000382933.8:c.565G>T ENSP00000372391.4:p.Ala189Ser
ENST00000400017.6:n.1639G>T ENSP00000382895.2:p.Ala547Ser
ENST00000553500.5:n.97G>T
ENST00000554303.1:n.58G>T ENSP00000450426.1:p.Ala20Ser
ENST00000555322.5:n.173G>T
ENST00000555587.5:n.64G>T ENSP00000451262.1:p.Ala22Ser
ENST00000556336.5:c.1558G>T ENSP00000450445.1:p.Ala520Ser
ENST00000557771.5:c.1558G>T ENSP00000451219.1:p.Ala520Ser