Canonical Allele Identifier: CA388867065
Community Standard Title: NM_020366.4(RPGRIP1):c.1867C>T (p.Gln623Ter)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324722C>T , CM000676.2:g.21324722C>T GRCh38
NC_000014.8:g.21792881C>T , CM000676.1:g.21792881C>T GRCh37
NC_000014.7:g.20862721C>T NCBI36
NG_008933.1:g.41746C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.1867C>T MANE Select NP_065099.3:p.Gln623Ter
ENST00000400017.7:c.1867C>T MANE Select ENSP00000382895.2:p.Gln623Ter
NM_001377523.1:c.688+2718C>T NP_001364452.1:n.688+2718C>T
NM_001377948.1:c.793C>T NP_001364877.1:p.Gln265Ter
NM_001377949.1:c.793C>T NP_001364878.1:p.Gln265Ter
NM_001377950.1:c.688+2718C>T NP_001364879.1:n.688+2718C>T
NM_001377951.1:c.190+2718C>T NP_001364880.1:n.190+2718C>T
NM_020366.3:c.1867C>T NP_065099.3:p.Gln623Ter
ENST00000382933.8:c.688+2718C>T ENSP00000372391.4:n.688+2718C>T
ENST00000400017.6:c.1867C>T ENSP00000382895.2:p.Gln623Ter
ENST00000553500.5:n.325C>T
ENST00000553927.1:n.799C>T
ENST00000554303.1:c.253C>T ENSP00000450426.1:p.Gln85Ter
ENST00000555322.5:c.297-3C>T
ENST00000555489.5:c.209C>T ENSP00000451044.1:n.209C>T
ENST00000555587.5:c.292C>T ENSP00000451262.1:p.Gln98Ter
ENST00000556336.5:c.1681+2718C>T ENSP00000450445.1:n.1681+2718C>T
ENST00000557771.5:c.1753C>T ENSP00000451219.1:p.Gln585Ter
XM_005267879.2:c.793C>T XP_005267936.1:p.Gln265Ter
XM_005267880.2:c.760C>T XP_005267937.1:p.Gln254Ter
XM_005267881.2:c.241C>T XP_005267938.1:p.Gln81Ter
XM_005267881.3:c.241C>T XP_005267938.1:p.Gln81Ter
XM_011536978.1:c.793C>T XP_011535280.1:p.Gln265Ter
XM_011536979.1:c.793C>T XP_011535281.1:p.Gln265Ter
XM_011536980.1:c.793C>T XP_011535282.1:p.Gln265Ter
XM_011536981.1:c.793C>T XP_011535283.1:p.Gln265Ter
XM_011536982.1:c.793C>T XP_011535284.1:p.Gln265Ter
XM_011536983.1:c.1834C>T XP_011535285.1:p.Gln612Ter
XM_017021473.1:c.793C>T XP_016876962.1:p.Gln265Ter
XM_024449663.1:c.793C>T XP_024305431.1:p.Gln265Ter
XM_024449664.1:c.793C>T XP_024305432.1:p.Gln265Ter
XM_024449665.1:c.793C>T XP_024305433.1:p.Gln265Ter
XM_024449666.1:c.793C>T XP_024305434.1:p.Gln265Ter