Canonical Allele Identifier: CA227905
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99811
ClinVar RCV Id: RCV000086241
dbSNP Id: rs61751273

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21321949T>G , CM000676.2:g.21321949T>G GRCh38
NC_000014.8:g.21790108T>G , CM000676.1:g.21790108T>G GRCh37
NC_000014.7:g.20859948T>G NCBI36
NG_008933.1:g.38973T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1707T>G MANE Select ENSP00000382895.2:p.Asn569Lys
ENST00000382933.8:c.633T>G ENSP00000372391.4:p.Asn211Lys
ENST00000400017.6:c.1707T>G ENSP00000382895.2:p.Asn569Lys
ENST00000553500.5:n.165T>G
ENST00000554303.1:c.126T>G ENSP00000450426.1:p.Asn42Lys
ENST00000555322.5:c.241T>G
ENST00000555489.5:c.33T>G ENSP00000451044.1:p.Asn11Lys
ENST00000555587.5:c.132T>G ENSP00000451262.1:p.Asn44Lys
ENST00000556336.5:c.1626T>G ENSP00000450445.1:p.Asn542Lys
ENST00000557771.5:c.1626T>G ENSP00000451219.1:p.Asn542Lys
NM_020366.3:c.1707T>G NP_065099.3:p.Asn569Lys
XM_005267879.2:c.633T>G XP_005267936.1:p.Asn211Lys
XM_005267880.2:c.633T>G XP_005267937.1:p.Asn211Lys
XM_005267881.2:c.81T>G XP_005267938.1:p.Asn27Lys
XM_011536978.1:c.633T>G XP_011535280.1:p.Asn211Lys
XM_011536979.1:c.633T>G XP_011535281.1:p.Asn211Lys
XM_011536980.1:c.633T>G XP_011535282.1:p.Asn211Lys
XM_011536981.1:c.633T>G XP_011535283.1:p.Asn211Lys
XM_011536982.1:c.633T>G XP_011535284.1:p.Asn211Lys
XM_011536983.1:c.1674T>G XP_011535285.1:p.Asn558Lys
XM_005267881.3:c.81T>G XP_005267938.1:p.Asn27Lys
XM_017021473.1:c.633T>G XP_016876962.1:p.Asn211Lys
XM_024449663.1:c.633T>G XP_024305431.1:p.Asn211Lys
XM_024449664.1:c.633T>G XP_024305432.1:p.Asn211Lys
XM_024449665.1:c.633T>G XP_024305433.1:p.Asn211Lys
XM_024449666.1:c.633T>G XP_024305434.1:p.Asn211Lys
NM_001377523.1:c.633T>G NP_001364452.1:p.Asn211Lys
NM_001377948.1:c.633T>G NP_001364877.1:p.Asn211Lys
NM_001377949.1:c.633T>G NP_001364878.1:p.Asn211Lys
NM_001377950.1:c.633T>G NP_001364879.1:p.Asn211Lys
NM_001377951.1:c.135T>G NP_001364880.1:p.Asn45Lys
NM_020366.4:c.1707T>G MANE Select NP_065099.3:p.Asn569Lys