Canonical Allele Identifier: CA388867301
Community Standard Title: NM_020366.4(RPGRIP1):c.1930C>T (p.Gln644Ter)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324785C>T , CM000676.2:g.21324785C>T GRCh38
NC_000014.8:g.21792944C>T , CM000676.1:g.21792944C>T GRCh37
NC_000014.7:g.20862784C>T NCBI36
NG_008933.1:g.41809C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.1930C>T MANE Select NP_065099.3:p.Gln644Ter
ENST00000400017.7:c.1930C>T MANE Select ENSP00000382895.2:p.Gln644Ter
NM_001377523.1:c.688+2781C>T NP_001364452.1:n.688+2781C>T
NM_001377948.1:c.856C>T NP_001364877.1:p.Gln286Ter
NM_001377949.1:c.796+60C>T NP_001364878.1:n.796+60C>T
NM_001377950.1:c.688+2781C>T NP_001364879.1:n.688+2781C>T
NM_001377951.1:c.190+2781C>T NP_001364880.1:n.190+2781C>T
NM_020366.3:c.1930C>T NP_065099.3:p.Gln644Ter
ENST00000382933.8:c.688+2781C>T ENSP00000372391.4:n.688+2781C>T
ENST00000400017.6:c.1930C>T ENSP00000382895.2:p.Gln644Ter
ENST00000553500.5:n.328+60C>T
ENST00000553927.1:n.862C>T
ENST00000554303.1:c.316C>T ENSP00000450426.1:p.Gln106Ter
ENST00000555322.5:c.357C>T
ENST00000555489.5:c.212+60C>T ENSP00000451044.1:n.212+60C>T
ENST00000555587.5:c.355C>T ENSP00000451262.1:p.Gln119Ter
ENST00000556336.5:c.1681+2781C>T ENSP00000450445.1:n.1681+2781C>T
ENST00000557771.5:c.1816C>T ENSP00000451219.1:p.Gln606Ter
XM_005267879.2:c.856C>T XP_005267936.1:p.Gln286Ter
XM_005267880.2:c.823C>T XP_005267937.1:p.Gln275Ter
XM_005267881.2:c.304C>T XP_005267938.1:p.Gln102Ter
XM_005267881.3:c.304C>T XP_005267938.1:p.Gln102Ter
XM_011536978.1:c.856C>T XP_011535280.1:p.Gln286Ter
XM_011536979.1:c.796+60C>T XP_011535281.1:n.796+60C>T
XM_011536980.1:c.796+60C>T XP_011535282.1:n.796+60C>T
XM_011536981.1:c.856C>T XP_011535283.1:p.Gln286Ter
XM_011536982.1:c.796+60C>T XP_011535284.1:n.796+60C>T
XM_011536983.1:c.1897C>T XP_011535285.1:p.Gln633Ter
XM_017021473.1:c.856C>T XP_016876962.1:p.Gln286Ter
XM_024449663.1:c.856C>T XP_024305431.1:p.Gln286Ter
XM_024449664.1:c.856C>T XP_024305432.1:p.Gln286Ter
XM_024449665.1:c.796+60C>T XP_024305433.1:n.796+60C>T
XM_024449666.1:c.796+60C>T XP_024305434.1:n.796+60C>T