Canonical Allele Identifier: CA2122452831
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312442A= , CM000676.2:g.21312442A= GRCh38
NC_000014.8:g.21780601A= , CM000676.1:g.21780601A= GRCh37
NC_000014.7:g.20850441A= NCBI36
NG_008933.1:g.29466A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1087A= MANE Select ENSP00000382895.2:p.Arg363=
ENST00000400017.6:c.1087A= ENSP00000382895.2:p.Arg363=
ENST00000556336.5:c.1006A= ENSP00000450445.1:p.Arg336=
ENST00000557771.5:c.1006A= ENSP00000451219.1:p.Arg336=
NM_020366.3:c.1087A= NP_065099.3:p.Arg363=
XM_011536983.1:c.1054A= XP_011535285.1:p.Arg352=
NM_020366.4:c.1087A= MANE Select NP_065099.3:p.Arg363=