Canonical Allele Identifier: CA388866942
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324689G>A , CM000676.2:g.21324689G>A GRCh38
NC_000014.8:g.21792848G>A , CM000676.1:g.21792848G>A GRCh37
NC_000014.7:g.20862688G>A NCBI36
NG_008933.1:g.41713G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1834G>A MANE Select ENSP00000382895.2:p.Asp612Asn
ENST00000382933.8:c.688+2685G>A ENSP00000372391.4:n.688+2685G>A
ENST00000400017.6:c.1834G>A ENSP00000382895.2:p.Asp612Asn
ENST00000553500.5:n.292G>A
ENST00000553927.1:n.766G>A
ENST00000554303.1:c.220G>A ENSP00000450426.1:p.Asp74Asn
ENST00000555322.5:c.297-36G>A
ENST00000555489.5:c.176G>A ENSP00000451044.1:p.Arg59Lys
ENST00000555587.5:c.259G>A ENSP00000451262.1:p.Asp87Asn
ENST00000556336.5:c.1681+2685G>A ENSP00000450445.1:n.1681+2685G>A
ENST00000557771.5:c.1720G>A ENSP00000451219.1:p.Asp574Asn
NM_020366.3:c.1834G>A NP_065099.3:p.Asp612Asn
XM_005267879.2:c.760G>A XP_005267936.1:p.Asp254Asn
XM_005267880.2:c.727G>A XP_005267937.1:p.Asp243Asn
XM_005267881.2:c.208G>A XP_005267938.1:p.Asp70Asn
XM_011536978.1:c.760G>A XP_011535280.1:p.Asp254Asn
XM_011536979.1:c.760G>A XP_011535281.1:p.Asp254Asn
XM_011536980.1:c.760G>A XP_011535282.1:p.Asp254Asn
XM_011536981.1:c.760G>A XP_011535283.1:p.Asp254Asn
XM_011536982.1:c.760G>A XP_011535284.1:p.Asp254Asn
XM_011536983.1:c.1801G>A XP_011535285.1:p.Asp601Asn
XM_005267881.3:c.208G>A XP_005267938.1:p.Asp70Asn
XM_017021473.1:c.760G>A XP_016876962.1:p.Asp254Asn
XM_024449663.1:c.760G>A XP_024305431.1:p.Asp254Asn
XM_024449664.1:c.760G>A XP_024305432.1:p.Asp254Asn
XM_024449665.1:c.760G>A XP_024305433.1:p.Asp254Asn
XM_024449666.1:c.760G>A XP_024305434.1:p.Asp254Asn
NM_001377523.1:c.688+2685G>A NP_001364452.1:n.688+2685G>A
NM_001377948.1:c.760G>A NP_001364877.1:p.Asp254Asn
NM_001377949.1:c.760G>A NP_001364878.1:p.Asp254Asn
NM_001377950.1:c.688+2685G>A NP_001364879.1:n.688+2685G>A
NM_001377951.1:c.190+2685G>A NP_001364880.1:n.190+2685G>A
NM_020366.4:c.1834G>A MANE Select NP_065099.3:p.Asp612Asn