Canonical Allele Identifier: CA257535773
Community Standard Title: NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21321929C>T , CM000676.2:g.21321929C>T GRCh38
NC_000014.8:g.21790088C>T , CM000676.1:g.21790088C>T GRCh37
NC_000014.7:g.20859928C>T NCBI36
NG_008933.1:g.38953C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.1687C>T MANE Select NP_065099.3:p.Arg563Ter
ENST00000400017.7:c.1687C>T MANE Select ENSP00000382895.2:p.Arg563Ter
NM_001377523.1:c.613C>T NP_001364452.1:p.Arg205Ter
NM_001377948.1:c.613C>T NP_001364877.1:p.Arg205Ter
NM_001377949.1:c.613C>T NP_001364878.1:p.Arg205Ter
NM_001377950.1:c.613C>T NP_001364879.1:p.Arg205Ter
NM_001377951.1:c.115C>T NP_001364880.1:p.Arg39Ter
NM_020366.3:c.1687C>T NP_065099.3:p.Arg563Ter
ENST00000382933.8:c.613C>T ENSP00000372391.4:p.Arg205Ter
ENST00000400017.6:c.1687C>T ENSP00000382895.2:p.Arg563Ter
ENST00000553500.5:n.145C>T
ENST00000554303.1:c.106C>T ENSP00000450426.1:p.Arg36Ter
ENST00000555322.5:c.221C>T
ENST00000555489.5:c.13C>T ENSP00000451044.1:p.Arg5Ter
ENST00000555587.5:c.112C>T ENSP00000451262.1:p.Arg38Ter
ENST00000556336.5:c.1606C>T ENSP00000450445.1:p.Arg536Ter
ENST00000557771.5:c.1606C>T ENSP00000451219.1:p.Arg536Ter
XM_005267879.2:c.613C>T XP_005267936.1:p.Arg205Ter
XM_005267880.2:c.613C>T XP_005267937.1:p.Arg205Ter
XM_005267881.2:c.61C>T XP_005267938.1:p.Arg21Ter
XM_005267881.3:c.61C>T XP_005267938.1:p.Arg21Ter
XM_011536978.1:c.613C>T XP_011535280.1:p.Arg205Ter
XM_011536979.1:c.613C>T XP_011535281.1:p.Arg205Ter
XM_011536980.1:c.613C>T XP_011535282.1:p.Arg205Ter
XM_011536981.1:c.613C>T XP_011535283.1:p.Arg205Ter
XM_011536982.1:c.613C>T XP_011535284.1:p.Arg205Ter
XM_011536983.1:c.1654C>T XP_011535285.1:p.Arg552Ter
XM_017021473.1:c.613C>T XP_016876962.1:p.Arg205Ter
XM_024449663.1:c.613C>T XP_024305431.1:p.Arg205Ter
XM_024449664.1:c.613C>T XP_024305432.1:p.Arg205Ter
XM_024449665.1:c.613C>T XP_024305433.1:p.Arg205Ter
XM_024449666.1:c.613C>T XP_024305434.1:p.Arg205Ter