Canonical Allele Identifier: CA388857168
Community Standard Title: NM_020366.4(RPGRIP1):c.3463G>T (p.Glu1155Ter)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21343159G>T , CM000676.2:g.21343159G>T GRCh38
NC_000014.8:g.21811318G>T , CM000676.1:g.21811318G>T GRCh37
NC_000014.7:g.20881158G>T NCBI36
NG_008933.1:g.60183G>T

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.3463G>T MANE Select NP_065099.3:p.Glu1155Ter
ENST00000400017.7:c.3463G>T MANE Select ENSP00000382895.2:p.Glu1155Ter
NM_001377523.1:c.1441G>T NP_001364452.1:p.Glu481Ter
NM_001377948.1:c.2389G>T NP_001364877.1:p.Glu797Ter
NM_001377949.1:c.1549G>T NP_001364878.1:p.Glu517Ter
NM_001377950.1:c.1441G>T NP_001364879.1:p.Glu481Ter
NM_001377951.1:c.946G>T NP_001364880.1:p.Glu316Ter
NM_020366.3:c.3463G>T NP_065099.3:p.Glu1155Ter
ENST00000382933.8:c.1441G>T ENSP00000372391.4:p.Glu481Ter
ENST00000400017.6:c.3463G>T ENSP00000382895.2:p.Glu1155Ter
ENST00000553927.1:n.2395G>T
ENST00000555322.5:c.1890G>T
ENST00000555489.5:c.1656G>T ENSP00000451044.1:n.1656G>T
ENST00000555587.5:c.1888G>T ENSP00000451262.1:p.Glu630Ter
ENST00000556336.5:c.2434G>T ENSP00000450445.1:p.Glu812Ter
ENST00000557606.1:c.396G>T
ENST00000557771.5:c.3349G>T ENSP00000451219.1:p.Glu1117Ter
XM_005267879.2:c.2392G>T XP_005267936.1:p.Glu798Ter
XM_005267880.2:c.2359G>T XP_005267937.1:p.Glu787Ter
XM_005267881.2:c.1840G>T XP_005267938.1:p.Glu614Ter
XM_005267881.3:c.1840G>T XP_005267938.1:p.Glu614Ter
XM_011536978.1:c.2389G>T XP_011535280.1:p.Glu797Ter
XM_011536979.1:c.2176G>T XP_011535281.1:p.Glu726Ter
XM_011536980.1:c.2047G>T XP_011535282.1:p.Glu683Ter
XM_011536981.1:c.1897G>T XP_011535283.1:p.Glu633Ter
XM_011536982.1:c.1552G>T XP_011535284.1:p.Glu518Ter
XM_011536983.1:c.3430G>T XP_011535285.1:p.Glu1144Ter
XM_017021473.1:c.1894G>T XP_016876962.1:p.Glu632Ter
XM_024449663.1:c.2386G>T XP_024305431.1:p.Glu796Ter
XM_024449664.1:c.1891G>T XP_024305432.1:p.Glu631Ter
XM_024449665.1:c.1549G>T XP_024305433.1:p.Glu517Ter
XM_024449666.1:c.1546G>T XP_024305434.1:p.Glu516Ter