Canonical Allele Identifier: CA7089309
Community Standard Title: NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21326107C>T , CM000676.2:g.21326107C>T GRCh38
NC_000014.8:g.21794266C>T , CM000676.1:g.21794266C>T GRCh37
NC_000014.7:g.20864106C>T NCBI36
NG_008933.1:g.43131C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.2644C>T MANE Select NP_065099.3:p.Pro882Ser
ENST00000400017.7:c.2644C>T MANE Select ENSP00000382895.2:p.Pro882Ser
NM_001377523.1:c.689-1516C>T NP_001364452.1:n.689-1516C>T
NM_001377948.1:c.1570C>T NP_001364877.1:p.Pro524Ser
NM_001377949.1:c.796+1382C>T NP_001364878.1:n.796+1382C>T
NM_001377950.1:c.689-1516C>T NP_001364879.1:n.689-1516C>T
NM_001377951.1:c.191-1516C>T NP_001364880.1:n.191-1516C>T
NM_020366.3:c.2644C>T NP_065099.3:p.Pro882Ser
ENST00000382933.8:c.689-1516C>T ENSP00000372391.4:n.689-1516C>T
ENST00000400017.6:c.2644C>T ENSP00000382895.2:p.Pro882Ser
ENST00000553927.1:n.1576C>T
ENST00000555322.5:c.1071C>T
ENST00000555489.5:c.837C>T ENSP00000451044.1:n.837C>T
ENST00000555587.5:c.1069C>T ENSP00000451262.1:p.Pro357Ser
ENST00000556336.5:c.1682-1516C>T ENSP00000450445.1:n.1682-1516C>T
ENST00000557771.5:c.2530C>T ENSP00000451219.1:p.Pro844Ser
XM_005267879.2:c.1570C>T XP_005267936.1:p.Pro524Ser
XM_005267880.2:c.1537C>T XP_005267937.1:p.Pro513Ser
XM_005267881.2:c.1018C>T XP_005267938.1:p.Pro340Ser
XM_005267881.3:c.1018C>T XP_005267938.1:p.Pro340Ser
XM_011536978.1:c.1570C>T XP_011535280.1:p.Pro524Ser
XM_011536979.1:c.1354C>T XP_011535281.1:p.Pro452Ser
XM_011536980.1:c.1225C>T XP_011535282.1:p.Pro409Ser
XM_011536981.1:c.1141+1037C>T XP_011535283.1:n.1141+1037C>T
XM_011536982.1:c.796+1382C>T XP_011535284.1:n.796+1382C>T
XM_011536983.1:c.2611C>T XP_011535285.1:p.Pro871Ser
XM_017021473.1:c.1141+1037C>T XP_016876962.1:n.1141+1037C>T
XM_024449663.1:c.1570C>T XP_024305431.1:p.Pro524Ser
XM_024449664.1:c.1141+1037C>T XP_024305432.1:n.1141+1037C>T
XM_024449665.1:c.796+1382C>T XP_024305433.1:n.796+1382C>T
XM_024449666.1:c.796+1382C>T XP_024305434.1:n.796+1382C>T