Canonical Allele Identifier: CA388857597
Community Standard Title: NM_020366.4(RPGRIP1):c.3610C>T (p.Gln1204Ter)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21345190C>T , CM000676.2:g.21345190C>T GRCh38
NC_000014.8:g.21813349C>T , CM000676.1:g.21813349C>T GRCh37
NC_000014.7:g.20883189C>T NCBI36
NG_008933.1:g.62214C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.3610C>T MANE Select NP_065099.3:p.Gln1204Ter
ENST00000400017.7:c.3610C>T MANE Select ENSP00000382895.2:p.Gln1204Ter
NM_001377523.1:c.1588C>T NP_001364452.1:p.Gln530Ter
NM_001377948.1:c.2536C>T NP_001364877.1:p.Gln846Ter
NM_001377949.1:c.1696C>T NP_001364878.1:p.Gln566Ter
NM_001377950.1:c.1588C>T NP_001364879.1:p.Gln530Ter
NM_001377951.1:c.1093C>T NP_001364880.1:p.Gln365Ter
NM_020366.3:c.3610C>T NP_065099.3:p.Gln1204Ter
ENST00000382933.8:c.1588C>T ENSP00000372391.4:p.Gln530Ter
ENST00000400017.6:c.3610C>T ENSP00000382895.2:p.Gln1204Ter
ENST00000553927.1:n.2542C>T
ENST00000555322.5:c.2037C>T
ENST00000555489.5:c.1803C>T ENSP00000451044.1:n.1803C>T
ENST00000555587.5:c.2035C>T ENSP00000451262.1:p.Gln679Ter
ENST00000556336.5:c.2581C>T ENSP00000450445.1:p.Gln861Ter
ENST00000557771.5:c.3496C>T ENSP00000451219.1:p.Gln1166Ter
XM_005267879.2:c.2539C>T XP_005267936.1:p.Gln847Ter
XM_005267880.2:c.2506C>T XP_005267937.1:p.Gln836Ter
XM_005267881.2:c.1987C>T XP_005267938.1:p.Gln663Ter
XM_005267881.3:c.1987C>T XP_005267938.1:p.Gln663Ter
XM_011536978.1:c.2536C>T XP_011535280.1:p.Gln846Ter
XM_011536979.1:c.2323C>T XP_011535281.1:p.Gln775Ter
XM_011536980.1:c.2194C>T XP_011535282.1:p.Gln732Ter
XM_011536981.1:c.2044C>T XP_011535283.1:p.Gln682Ter
XM_011536982.1:c.1699C>T XP_011535284.1:p.Gln567Ter
XM_011536983.1:c.3577C>T XP_011535285.1:p.Gln1193Ter
XM_017021473.1:c.2041C>T XP_016876962.1:p.Gln681Ter
XM_024449663.1:c.2533C>T XP_024305431.1:p.Gln845Ter
XM_024449664.1:c.2038C>T XP_024305432.1:p.Gln680Ter
XM_024449665.1:c.1696C>T XP_024305433.1:p.Gln566Ter
XM_024449666.1:c.1693C>T XP_024305434.1:p.Gln565Ter